7390 371 2 http://www.orpha.net/ORDO/Orphanet_309178 Tay-Sachs disease, B variant, infantile form 'Tay-Sachs disease, B variant, infantile form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B variant, infantile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000223 Duodenal Adenocarcinoma 'Duodenal Adenocarcinoma' SubClassOf 'small intestinal adenocarcinoma' 'Duodenal Adenocarcinoma' SubClassOf 'small intestinal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_309185 Tay-Sachs disease, B variant, juvenile form 'Tay-Sachs disease, B variant, juvenile form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B variant, juvenile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000234 Endometrial Hyperplasia without Atypia 'Endometrial Hyperplasia without Atypia' SubClassOf 'endometrial hyperplasia' 'Endometrial Hyperplasia without Atypia' SubClassOf 'endometrial hyperplasia' http://www.ebi.ac.uk/efo/EFO_1000258 Fibrous Meningioma 'Fibrous Meningioma' SubClassOf 'Meningioma' 'Fibrous Meningioma' SubClassOf 'meningeal neoplasm' 'Fibrous Meningioma' SubClassOf 'has_disease_location' some 'meninx' http://www.ebi.ac.uk/efo/EFO_1000251 Fallopian Tube Carcinoma 'Fallopian Tube Carcinoma' SubClassOf 'carcinoma' 'Fallopian Tube Carcinoma' SubClassOf 'fallopian tube cancer' 'Fallopian Tube Carcinoma' SubClassOf 'carcinoma' 'Fallopian Tube Carcinoma' SubClassOf 'fallopian tube cancer' http://www.orpha.net/ORDO/Orphanet_309130 Disorder of carnitine cycle and carnitine transport 'Disorder of carnitine cycle and carnitine transport' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' 'Disorder of carnitine cycle and carnitine transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000268 Gastric Adenoma 'Gastric Adenoma' SubClassOf 'stomach neoplasm' 'Gastric Adenoma' SubClassOf 'stomach neoplasm' http://www.orpha.net/ORDO/Orphanet_397750 Periodic paralysis with later-onset distal motor neuropathy 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'Genetic periodic paralysis' 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397755 Periodic paralysis with transient compartment-like syndrome 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'Genetic muscular channelopathy' 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'Genetic periodic paralysis' 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309147 Hyper-beta-alaninemia 'Hyper-beta-alaninemia' SubClassOf 'Disorder of pyrimidine metabolism' 'Hyper-beta-alaninemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309144 Gangliosidosis 'Gangliosidosis' SubClassOf 'Sphingolipidosis' 'Gangliosidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'Retinal dystrophy' 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000278 Gastric Squamous Cell Carcinoma 'Gastric Squamous Cell Carcinoma' SubClassOf 'gastric carcinoma' 'Gastric Squamous Cell Carcinoma' SubClassOf 'gastric carcinoma' http://www.orpha.net/ORDO/Orphanet_324761 Microcephalic primordial dwarfism 'Microcephalic primordial dwarfism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephalic primordial dwarfism' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephalic primordial dwarfism' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Microcephalic primordial dwarfism' SubClassOf 'Slender bone dysplasia' 'Microcephalic primordial dwarfism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324764 Trichorhinophalangeal syndrome 'Trichorhinophalangeal syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichorhinophalangeal syndrome' SubClassOf 'Acromelic dysplasia' 'Trichorhinophalangeal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000283 Grade III Prostatic Intraepithelial Neoplasia 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'in situ carcinoma' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'in situ carcinoma' http://www.orpha.net/ORDO/Orphanet_309111 Combined pancreatic lipase-colipase deficiency 'Combined pancreatic lipase-colipase deficiency' SubClassOf 'Disorder of lipid absorption and transport' 'Combined pancreatic lipase-colipase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397725 COASY protein-associated neurodegeneration 'COASY protein-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'COASY protein-associated neurodegeneration' SubClassOf 'has_disease_location' some 'brain' 'COASY protein-associated neurodegeneration' SubClassOf 'mineral metabolism disease' 'COASY protein-associated neurodegeneration' SubClassOf 'Genetic neurodegenerative disease' 'COASY protein-associated neurodegeneration' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'COASY protein-associated neurodegeneration' SubClassOf 'inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_1000288 Head and Neck Paraganglioma 'Head and Neck Paraganglioma' SubClassOf 'head and neck neoplasia' 'Head and Neck Paraganglioma' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_1000287 Growth Hormone-Producing Pituitary Gland Adenoma 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'Pituitary Gland Adenoma' 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.ebi.ac.uk/efo/EFO_1000285 Granular Cell Tumor of the Neurohypophysis 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'Granular Cell Tumor' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'Granular Cell Tumor' http://www.orpha.net/ORDO/Orphanet_309120 Acyl-CoA dehydrogenase deficiency 'Acyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'Acyl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69125 Anonychia with flexural pigmentation 'Anonychia with flexural pigmentation' SubClassOf 'Ectodermal dysplasia syndrome' 'Anonychia with flexural pigmentation' SubClassOf 'Syndromic nail anomaly' 'Anonychia with flexural pigmentation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000298 Hydatidiform Mole 'Hydatidiform Mole' SubClassOf 'gestational trophoblastic disease' http://www.orpha.net/ORDO/Orphanet_397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Syndromic genetic deafness' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Autosomal dominant distal myopathy' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251262 Familial osteochondritis dissecans 'Familial osteochondritis dissecans' SubClassOf 'Osteonecrosis of genetic origin' 'Familial osteochondritis dissecans' SubClassOf 'Aggrecan-related bone disorder' 'Familial osteochondritis dissecans' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_94145 Autosomal dominant cerebellar ataxia type 1 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'Rare hereditary ataxia' 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'Late-onset ataxia with dementia' 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' http://www.orpha.net/ORDO/Orphanet_251274 Familial hyperaldosteronism type III 'Familial hyperaldosteronism type III' SubClassOf 'familial hyperaldosteronism' 'Familial hyperaldosteronism type III' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_226298 Central congenital hypothyroidism 'Central congenital hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Central congenital hypothyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_94149 Autosomal dominant cerebellar ataxia type 4 'Autosomal dominant cerebellar ataxia type 4' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 4' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal dominant cerebellar ataxia type 4' SubClassOf 'Late-onset ataxia with dementia' 'Autosomal dominant cerebellar ataxia type 4' SubClassOf 'Rare hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_94148 Autosomal dominant cerebellar ataxia type 3 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'Rare hereditary ataxia' 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'Late-onset ataxia with dementia' http://www.orpha.net/ORDO/Orphanet_94147 Spinocerebellar ataxia type 7 'Spinocerebellar ataxia type 7' SubClassOf 'Autosomal dominant cerebellar ataxia type 2' 'Spinocerebellar ataxia type 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000400 diabetes mellitus 'diabetes mellitus' SubClassOf 'glucose metabolism disease' 'diabetes mellitus' SubClassOf 'glucose metabolism disease' http://www.ebi.ac.uk/efo/EFO_0000401 diabetic nephropathy 'diabetic nephropathy' SubClassOf 'metabolic disease' 'diabetic nephropathy' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_226292 Permanent congenital hypothyroidism 'Permanent congenital hypothyroidism' SubClassOf 'Congenital hypothyroidism' 'Permanent congenital hypothyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_226295 Primary congenital hypothyroidism 'Primary congenital hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Primary congenital hypothyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008501 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'neurocutaneous syndrome' 'Sturge-Weber syndrome' SubClassOf 'neurocutaneous syndrome' http://www.ebi.ac.uk/efo/EFO_0000437 embryonal rhabdomyosarcoma 'embryonal rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'embryonal rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0008516 syndactyly type 5 'syndactyly type 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0008515 syndactyly type 4 'syndactyly type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0008514 syndactyly type 3 'syndactyly type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0008513 synpolydactyly type 1 'synpolydactyly type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0008512 syndactyly type 1 'syndactyly type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0008521 tarsal-carpal coalition syndrome 'tarsal-carpal coalition syndrome' SubClassOf 'autosomal dominant disease' 'tarsal-carpal coalition syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008520 brachydactyly-elbow wrist dysplasia syndrome 'brachydactyly-elbow wrist dysplasia syndrome' SubClassOf 'genetic disorder' 'brachydactyly-elbow wrist dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800095 http://www.orpha.net/ORDO/Orphanet_263297 Glycogen storage disease due to glycogenin deficiency 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Disorder of carbohydrate metabolism' 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Genetic skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0021501 benign neoplasm of small intestine 'benign neoplasm of small intestine' SubClassOf 'intestinal benign neoplasm' 'benign neoplasm of small intestine' SubClassOf 'small intestine neoplasm' 'benign neoplasm of small intestine' SubClassOf 'intestinal benign neoplasm' 'benign neoplasm of small intestine' SubClassOf 'small intestine neoplasm' http://www.orpha.net/ORDO/Orphanet_289846 Glutathione synthetase deficiency with 5-oxoprolinuria 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'Glutathione synthetase deficiency' 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289841 Disorder of glutamine metabolism 'Disorder of glutamine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of glutamine metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289849 Glutathione synthetase deficiency without 5-oxoprolinuria 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'Glutathione synthetase deficiency' 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289857 Neonatal glycine encephalopathy 'Neonatal glycine encephalopathy' SubClassOf 'perinatal disease' 'Neonatal glycine encephalopathy' SubClassOf 'Glycine encephalopathy' 'Neonatal glycine encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251287 Benign concentric annular macular dystrophy 'Benign concentric annular macular dystrophy' SubClassOf 'Genetic macular dystrophy' 'Benign concentric annular macular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008547 thanatophoric dysplasia type 2 'thanatophoric dysplasia type 2' SubClassOf 'genetic disorder' 'thanatophoric dysplasia type 2' SubClassOf 'thanatophoric dysplasia' 'thanatophoric dysplasia type 2' SubClassOf 'thanatophoric dysplasia' http://www.ebi.ac.uk/efo/EFO_1000202 Complex Endometrial Hyperplasia 'Complex Endometrial Hyperplasia' SubClassOf 'endometrial hyperplasia' 'Complex Endometrial Hyperplasia' SubClassOf 'endometrial hyperplasia' http://www.ebi.ac.uk/efo/EFO_0000474 epilepsy 'epilepsy' SubClassOf 'brain disease' 'epilepsy' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0000478 esophageal adenocarcinoma 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' 'esophageal adenocarcinoma' SubClassOf 'esophageal carcinoma' 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' 'esophageal adenocarcinoma' SubClassOf 'esophageal carcinoma' http://www.orpha.net/ORDO/Orphanet_309192 Tay-Sachs disease, B variant, adult form 'Tay-Sachs disease, B variant, adult form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B variant, adult form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289860 Infantile glycine encephalopathy 'Infantile glycine encephalopathy' SubClassOf 'Glycine encephalopathy' 'Infantile glycine encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000206 Conjunctival Squamous Cell Carcinoma 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'conjunctival cancer' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'conjunctival cancer' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000204 Conjunctival Melanoma 'Conjunctival Melanoma' SubClassOf 'conjunctival cancer' 'Conjunctival Melanoma' SubClassOf 'conjunctival cancer' http://www.ebi.ac.uk/efo/EFO_1000205 Conjunctival Nevus 'Conjunctival Nevus' SubClassOf 'genetic skin disease' 'Conjunctival Nevus' SubClassOf 'melanocytic nevus' 'Conjunctival Nevus' SubClassOf 'melanocytic nevus' http://www.orpha.net/ORDO/Orphanet_94124 Spinocerebellar ataxia type 1 with axonal neuropathy 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0021525 benign neoplasm of corpus uteri 'benign neoplasm of corpus uteri' SubClassOf 'corpus uteri neoplasm' 'benign neoplasm of corpus uteri' SubClassOf 'uterine benign neoplasm' 'benign neoplasm of corpus uteri' SubClassOf 'corpus uteri neoplasm' 'benign neoplasm of corpus uteri' SubClassOf 'uterine benign neoplasm' http://www.orpha.net/ORDO/Orphanet_94122 Cerebellar ataxia, Cayman type 'Cerebellar ataxia, Cayman type' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'Cerebellar ataxia, Cayman type' SubClassOf 'Early-onset ataxia with dementia' 'Cerebellar ataxia, Cayman type' SubClassOf 'Rare hereditary ataxia' 'Cerebellar ataxia, Cayman type' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' http://www.orpha.net/ORDO/Orphanet_289863 Atypical glycine encephalopathy 'Atypical glycine encephalopathy' SubClassOf 'Glycine encephalopathy' 'Atypical glycine encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021511 benign neoplasm of adrenal gland 'benign neoplasm of adrenal gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of adrenal gland' SubClassOf 'benign endocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_94125 Recessive mitochondrial ataxia syndrome 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Ataxia neuropathy spectrum' 'Recessive mitochondrial ataxia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000464 emphysema 'emphysema' SubClassOf 'chronic obstructive pulmonary disease' 'emphysema' SubClassOf 'chronic obstructive pulmonary disease' http://purl.obolibrary.org/obo/MONDO_0008553 platelet-type bleeding disorder 17 'platelet-type bleeding disorder 17' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 17' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.ebi.ac.uk/efo/EFO_1000212 Cutaneous Undifferentiated Pleomorphic Sarcoma 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'undifferentiated pleomorphic sarcoma' 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'undifferentiated pleomorphic sarcoma' http://www.orpha.net/ORDO/Orphanet_251290 Parietal foramina with cleidocranial dysplasia 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Parietal foramina with cleidocranial dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000465 endocarditis 'endocarditis' SubClassOf 'endocardium disorder' 'endocarditis' SubClassOf 'endocardium disorder' http://purl.obolibrary.org/obo/MONDO_0008551 thoracolaryngopelvic dysplasia 'thoracolaryngopelvic dysplasia' SubClassOf 'short rib dysplasia' 'thoracolaryngopelvic dysplasia' SubClassOf 'short rib dysplasia' http://www.orpha.net/ORDO/Orphanet_251295 Pigmented paravenous retinochoroidal atrophy 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'Retinal dystrophy' 'Pigmented paravenous retinochoroidal atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1383 Cataract - deafness - hypogonadism 'Cataract - deafness - hypogonadism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - deafness - hypogonadism' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1381 Cataract - intellectual disability - anal atresia - urinary defects 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic anorectal malformation' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic cataract' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Genetic digestive tract malformation' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Rare cataract' http://www.orpha.net/ORDO/Orphanet_1380 Cataract - nephropathy - encephalopathy 'Cataract - nephropathy - encephalopathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cataract - nephropathy - encephalopathy' SubClassOf 'Genetic renal or urinary tract malformation' http://www.ebi.ac.uk/efo/EFO_0000373 congestive heart failure 'congestive heart failure' SubClassOf 'heart failure' 'congestive heart failure' SubClassOf 'heart failure' http://purl.obolibrary.org/obo/MONDO_0008565 familial thyroglossal duct cyst 'familial thyroglossal duct cyst' SubClassOf 'Thyroglossal Duct Cyst' 'familial thyroglossal duct cyst' SubClassOf 'Thyroglossal Duct Cyst' http://www.orpha.net/ORDO/Orphanet_1389 Cortical blindness - intellectual disability - polydactyly 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1387 Cataract - intellectual disability - hypogonadism 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Syndromic cataract' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Rare cataract' http://purl.obolibrary.org/obo/MONDO_0008560 thrombophilia due to activated protein C resistance 'thrombophilia due to activated protein C resistance' SubClassOf 'inherited thrombophilia' 'thrombophilia due to activated protein C resistance' SubClassOf 'inherited thrombophilia' http://www.orpha.net/ORDO/Orphanet_1396 Cerebro-reno-digital syndrome 'Cerebro-reno-digital syndrome' SubClassOf 'Familial cystic renal disease' 'Cerebro-reno-digital syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cerebro-reno-digital syndrome' SubClassOf 'kidney disease' 'Cerebro-reno-digital syndrome' SubClassOf 'Genetic renal or urinary tract malformation' 'Cerebro-reno-digital syndrome' SubClassOf 'has_disease_location' some 'kidney' http://www.orpha.net/ORDO/Orphanet_1394 Cerebro-facio-thoracic dysplasia 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1390 Night blindness - skeletal anomalies - dysmorphism 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0021533 intestinal neuroendocrine tumor G1 'intestinal neuroendocrine tumor G1' SubClassOf 'carcinoid tumor' 'intestinal neuroendocrine tumor G1' SubClassOf 'carcinoid tumor' http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0008572 tibia, hypoplasia or aplasia of, with polydactyly 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'genetic disorder' 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0021539 hamartoma of skin appendage 'hamartoma of skin appendage' SubClassOf 'hamartoma' 'hamartoma of skin appendage' SubClassOf 'hamartoma' http://www.ebi.ac.uk/efo/EFO_0000398 dermatomyositis 'dermatomyositis' SubClassOf 'polymyositis' 'dermatomyositis' SubClassOf 'polymyositis' http://www.orpha.net/ORDO/Orphanet_179490 Obesity due to congenital leptin resistance 'Obesity due to congenital leptin resistance' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to congenital leptin resistance' SubClassOf 'Genetic obesity' http://purl.obolibrary.org/obo/MONDO_0008582 tooth and nail syndrome 'tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008592 tricho-dento-osseous syndrome 'tricho-dento-osseous syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 'tricho-dento-osseous syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_179494 Obesity due to leptin receptor gene deficiency 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to leptin receptor gene deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289825 Late-onset primary lymphedema 'Late-onset primary lymphedema' SubClassOf 'Primary lymphedema' 'Late-onset primary lymphedema' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease 'Crohn's disease' SubClassOf 'inflammatory bowel disease' 'Crohn's disease' SubClassOf 'inflammatory bowel disease' http://www.ebi.ac.uk/efo/EFO_0000389 cutaneous melanoma 'cutaneous melanoma' SubClassOf 'skin cancer' 'cutaneous melanoma' SubClassOf 'melanoma' 'cutaneous melanoma' SubClassOf 'skin cancer' 'cutaneous melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/HP_0004398 Peptic ulcer 'Peptic ulcer' SubClassOf 'Functional abnormality of the gastrointestinal tract' 'Peptic ulcer' SubClassOf 'Morphological abnormality of the gastrointestinal tract' http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm 'connective tissue neoplasm' SubClassOf 'neoplasm' 'connective tissue neoplasm' SubClassOf 'connective tissue disease' 'connective tissue neoplasm' SubClassOf 'neoplasm' 'connective tissue neoplasm' SubClassOf 'connective tissue disease' http://www.orpha.net/ORDO/Orphanet_1342 Heart-hand syndrome type 3 'Heart-hand syndrome type 3' SubClassOf 'Heart-hand syndrome' 'Heart-hand syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart-hand syndrome type 3' SubClassOf 'Genetic cardiac rhythm disease' 'Heart-hand syndrome type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1340 Cardiofaciocutaneous syndrome 'Cardiofaciocutaneous syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Cardiofaciocutaneous syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Cardiofaciocutaneous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Cardiofaciocutaneous syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiofaciocutaneous syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1349 Maternally-inherited cardiomyopathy and hearing loss 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1344 Atrial stand still 'Atrial stand still' SubClassOf 'Familial restrictive cardiomyopathy' 'Atrial stand still' SubClassOf 'Genetic cardiac rhythm disease' 'Atrial stand still' SubClassOf 'familial cardiomyopathy' 'Atrial stand still' SubClassOf 'Rare genetic cardiac disease' 'Atrial stand still' SubClassOf 'has_disease_location' some 'myocardium' http://www.orpha.net/ORDO/Orphanet_1350 Heart-hand syndrome type 2 'Heart-hand syndrome type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart-hand syndrome type 2' SubClassOf 'Genetic cardiac rhythm disease' 'Heart-hand syndrome type 2' SubClassOf 'Heart-hand syndrome' 'Heart-hand syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1358 Carey-Fineman-Ziter syndrome 'Carey-Fineman-Ziter syndrome' SubClassOf 'Orofacial clefting syndrome' 'Carey-Fineman-Ziter syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_1354 Heart defects - limb shortening 'Heart defects - limb shortening' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart defects - limb shortening' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1355 Heart defect - round face - congenital developmental delay 'Heart defect - round face - congenital developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Heart defect - round face - congenital developmental delay' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1361 Carnosinemia 'Carnosinemia' SubClassOf 'Disorder of peptide metabolism' 'Carnosinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1369 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Mitochondrial substrate carrier disorder' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Disorder of energy metabolism' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1375 Cataract - hypertrichosis - intellectual disability 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Ectodermal dysplasia syndrome' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Hypertrichosis' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Syndromic cataract' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Rare cataract' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Rare genetic skin disease' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_1373 Cataract - aberrant oral frenula - growth delay 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Syndromic cataract' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Rare cataract' http://www.orpha.net/ORDO/Orphanet_1377 Cataract-microcornea syndrome 'Cataract-microcornea syndrome' SubClassOf 'Syndromic cataract' 'Cataract-microcornea syndrome' SubClassOf 'Non-syndromic developmental defect of the eye' 'Cataract-microcornea syndrome' SubClassOf 'Genetic developmental defect of the eye' 'Cataract-microcornea syndrome' SubClassOf 'Rare cataract' http://www.ebi.ac.uk/efo/EFO_1000183 Colon Dysplasia 'Colon Dysplasia' SubClassOf 'colonic disorder' 'Colon Dysplasia' SubClassOf 'colonic disorder' http://www.ebi.ac.uk/efo/EFO_1000180 Clear Cell Meningioma 'Clear Cell Meningioma' SubClassOf 'Meningioma' 'Clear Cell Meningioma' SubClassOf 'has_disease_location' some 'meninx' 'Clear Cell Meningioma' SubClassOf 'meningeal neoplasm' http://www.orpha.net/ORDO/Orphanet_1300 Autosomal dominant popliteal pterygium syndrome 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Syndromic ankyloblepharon' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Popliteal pterygium syndrome' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216820 Osteogenesis imperfecta type 4 'Osteogenesis imperfecta type 4' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 4' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Osteogenesis imperfecta type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216828 Osteogenesis imperfecta type 5 'Osteogenesis imperfecta type 5' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1309 Medullary sponge kidney 'Medullary sponge kidney' SubClassOf 'familial cystic renal disease' 'Medullary sponge kidney' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Medullary sponge kidney' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216812 Osteogenesis imperfecta type 3 'Osteogenesis imperfecta type 3' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Osteogenesis imperfecta type 3' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1327 Camptodactyly syndrome, Guadalajara type 1 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1326 Camptodactyly syndrome, Guadalajara type 2 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35858 Gräsbeck-Imerslund disease 'Gräsbeck-Imerslund disease' SubClassOf 'Intestinal disease due to vitamin absorption anomaly' 'Gräsbeck-Imerslund disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Gräsbeck-Imerslund disease' SubClassOf 'Rare genetic renal disease' 'Gräsbeck-Imerslund disease' SubClassOf 'malabsorption syndrome' 'Gräsbeck-Imerslund disease' SubClassOf 'Genetic intestinal disease' http://www.orpha.net/ORDO/Orphanet_1318 Campomelia, Cumming type 'Campomelia, Cumming type' SubClassOf 'Syndromic lymphedema' 'Campomelia, Cumming type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Campomelia, Cumming type' SubClassOf 'genetic skin disease' 'Campomelia, Cumming type' SubClassOf 'Bent bone dysplasia' 'Campomelia, Cumming type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1319 Camptobrachydactyly 'Camptobrachydactyly' SubClassOf 'Syndrome with brachydactyly' 'Camptobrachydactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1338 Heart defect-tongue hamartoma-polysyndactyly syndrome 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1336 Hyperkeratosis-hyperpigmentation syndrome 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1335 Cantrell pentalogy 'Cantrell pentalogy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cantrell pentalogy' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1333 Familial pancreatic carcinoma 'Familial pancreatic carcinoma' SubClassOf 'Genetic pancreatic disease' 'Familial pancreatic carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_371176 Congenital disorder of glycosylation with dilated cardiomyopathy 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'Rare genetic cardiac disease' 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'has_disease_location' some 'myocardium' http://www.orpha.net/ORDO/Orphanet_397787 Severe combined immunodeficiency due to IKK2 deficiency 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216866 Classic pantothenate kinase-associated neurodegeneration 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'Pantothenate kinase-associated neurodegeneration' 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35878 Hyperinsulinism-hyperammonemia syndrome 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_371195 Congenital disorder of glycosylation-related bone disorder 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Congenital disorder of glycosylation-related bone disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216873 Atypical pantothenate kinase-associated neurodegeneration 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'Pantothenate kinase-associated neurodegeneration' 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309297 Mucopolysaccharidosis type 4A 'Mucopolysaccharidosis type 4A' SubClassOf 'Mucopolysaccharidosis type 4' 'Mucopolysaccharidosis type 4A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000342 Lymphoplasmacyte-Rich Meningioma 'Lymphoplasmacyte-Rich Meningioma' SubClassOf 'Meningioma' 'Lymphoplasmacyte-Rich Meningioma' SubClassOf 'has_disease_location' some 'meninx' 'Lymphoplasmacyte-Rich Meningioma' SubClassOf 'meningeal neoplasm' http://www.orpha.net/ORDO/Orphanet_108993 Non-syndromic respiratory or mediastinal malformation 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'Genetic respiratory or mediastinal malformation' 'Non-syndromic respiratory or mediastinal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000354 Malignant Laryngeal Neoplasm 'Malignant Laryngeal Neoplasm' SubClassOf 'respiratory system cancer' 'Malignant Laryngeal Neoplasm' SubClassOf 'laryngeal neoplasm' 'Malignant Laryngeal Neoplasm' SubClassOf 'respiratory system cancer' 'Malignant Laryngeal Neoplasm' SubClassOf 'laryngeal neoplasm' http://www.orpha.net/ORDO/Orphanet_108985 Non-syndromic developmental defect of the eye 'Non-syndromic developmental defect of the eye' SubClassOf 'Genetic developmental defect of the eye' 'Non-syndromic developmental defect of the eye' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309279 Glycoproteinosis 'Glycoproteinosis' SubClassOf 'Lysosomal disease' 'Glycoproteinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000366 Mediastinal Malignant Germ Cell Tumor 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'mediastinal cancer' 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'mediastinal cancer' http://www.ebi.ac.uk/efo/EFO_1000363 Malignant Urinary System Neoplasm 'Malignant Urinary System Neoplasm' SubClassOf 'urinary system neoplasm' 'Malignant Urinary System Neoplasm' SubClassOf 'cancer' 'Malignant Urinary System Neoplasm' SubClassOf 'urinary system neoplasm' 'Malignant Urinary System Neoplasm' SubClassOf 'cancer' http://www.orpha.net/ORDO/Orphanet_309271 Metachromatic leukodystrophy, adult form 'Metachromatic leukodystrophy, adult form' SubClassOf 'Metachromatic leukodystrophy' 'Metachromatic leukodystrophy, adult form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000364 Mast Cell Sarcoma 'Mast Cell Sarcoma' SubClassOf 'sarcoma' 'Mast Cell Sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_1000362 Malignant Pleural Neoplasm 'Malignant Pleural Neoplasm' SubClassOf 'respiratory system cancer' 'Malignant Pleural Neoplasm' SubClassOf 'pleural neoplasm' 'Malignant Pleural Neoplasm' SubClassOf 'thoracic cancer' 'Malignant Pleural Neoplasm' SubClassOf 'respiratory system cancer' 'Malignant Pleural Neoplasm' SubClassOf 'pleural neoplasm' 'Malignant Pleural Neoplasm' SubClassOf 'thoracic cancer' http://www.orpha.net/ORDO/Orphanet_108971 Non-syndromic visceral malformation 'Non-syndromic visceral malformation' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' 'Non-syndromic visceral malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_108973 Syndromic visceral malformation 'Syndromic visceral malformation' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' 'Syndromic visceral malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000370 Meningeal Melanocytoma 'Meningeal Melanocytoma' SubClassOf 'Meningioma' 'Meningeal Melanocytoma' SubClassOf 'has_disease_location' some 'meninx' 'Meningeal Melanocytoma' SubClassOf 'meningeal neoplasm' http://www.orpha.net/ORDO/Orphanet_309288 Alpha-mannosidosis, adult form 'Alpha-mannosidosis, adult form' SubClassOf 'Alpha-mannosidosis' 'Alpha-mannosidosis, adult form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35698 Mitochondrial DNA depletion syndrome 'Mitochondrial DNA depletion syndrome' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial DNA depletion syndrome' SubClassOf 'Metabolic disease with intestinal involvement' 'Mitochondrial DNA depletion syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Mitochondrial DNA depletion syndrome' SubClassOf 'Mitochondrial DNA maintenance syndrome' 'Mitochondrial DNA depletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_371207 Congenital disorder of glycosylation with nephropathy as a major feature 'Congenital disorder of glycosylation with nephropathy as a major feature' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Congenital disorder of glycosylation with nephropathy as a major feature' SubClassOf 'Rare genetic renal disease' http://www.ebi.ac.uk/efo/EFO_1000376 Microcystic Meningioma 'Microcystic Meningioma' SubClassOf 'Meningioma' 'Microcystic Meningioma' SubClassOf 'has_disease_location' some 'meninx' 'Microcystic Meningioma' SubClassOf 'meningeal neoplasm' http://www.orpha.net/ORDO/Orphanet_309282 Alpha-mannosidosis, infantile form 'Alpha-mannosidosis, infantile form' SubClassOf 'Alpha-mannosidosis' 'Alpha-mannosidosis, infantile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000375 Metaplastic Meningioma 'Metaplastic Meningioma' SubClassOf 'Meningioma' 'Metaplastic Meningioma' SubClassOf 'meningeal neoplasm' 'Metaplastic Meningioma' SubClassOf 'has_disease_location' some 'meninx' http://www.ebi.ac.uk/efo/EFO_1000372 Meningothelial Meningioma 'Meningothelial Meningioma' SubClassOf 'Meningioma' 'Meningothelial Meningioma' SubClassOf 'meningeal neoplasm' 'Meningothelial Meningioma' SubClassOf 'has_disease_location' some 'meninx' http://www.orpha.net/ORDO/Orphanet_108963 Non-syndromic gastroduodenal malformation 'Non-syndromic gastroduodenal malformation' SubClassOf 'Gastroduodenal malformation' 'Non-syndromic gastroduodenal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_108965 Syndromic gastroduodenal malformation 'Syndromic gastroduodenal malformation' SubClassOf 'Gastroduodenal malformation' 'Syndromic gastroduodenal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_108967 Non-syndromic intestinal malformation 'Non-syndromic intestinal malformation' SubClassOf 'Intestinal malformation' 'Non-syndromic intestinal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_108969 Syndromic intestinal malformation 'Syndromic intestinal malformation' SubClassOf 'Intestinal malformation' 'Syndromic intestinal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309252 Atypical Gaucher disease due to saposin C deficiency 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf 'Gaucher disease' 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309256 Metachromatic leukodystrophy, late infantile form 'Metachromatic leukodystrophy, late infantile form' SubClassOf 'Metachromatic leukodystrophy' 'Metachromatic leukodystrophy, late infantile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome 'Dravet syndrome' SubClassOf 'Infantile epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_33067 Metaphyseal chondrodysplasia, Jansen type 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000384 Mixed Tumor of the Salivary Gland 'Mixed Tumor of the Salivary Gland' SubClassOf 'salivary gland disease' 'Mixed Tumor of the Salivary Gland' SubClassOf 'head and neck neoplasia' 'Mixed Tumor of the Salivary Gland' SubClassOf 'salivary gland disease' 'Mixed Tumor of the Salivary Gland' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_0002914 uterine sarcoma 'uterine sarcoma' SubClassOf 'sarcoma' 'uterine sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma 'esophageal carcinoma' SubClassOf 'esophageal cancer' 'esophageal carcinoma' SubClassOf 'esophageal cancer' http://www.ebi.ac.uk/efo/EFO_0002919 uterine carcinoma 'uterine carcinoma' SubClassOf 'carcinoma' 'uterine carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_309263 Metachromatic leukodystrophy, juvenile form 'Metachromatic leukodystrophy, juvenile form' SubClassOf 'Metachromatic leukodystrophy' 'Metachromatic leukodystrophy, juvenile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000391 Nasal Cavity Polyp 'Nasal Cavity Polyp' SubClassOf 'polyp' 'Nasal Cavity Polyp' SubClassOf 'nasal cavity disorder' 'Nasal Cavity Polyp' SubClassOf 'polyp' 'Nasal Cavity Polyp' SubClassOf 'nasal cavity disorder' http://www.orpha.net/ORDO/Orphanet_371235 Congenital disorder of glycosylation with developmental anomaly 'Congenital disorder of glycosylation with developmental anomaly' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital disorder of glycosylation with developmental anomaly' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_216804 Osteogenesis imperfecta type 2 'Osteogenesis imperfecta type 2' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002921 vulvar carcinoma 'vulvar carcinoma' SubClassOf 'carcinoma' 'vulvar carcinoma' SubClassOf 'vulva cancer' 'vulvar carcinoma' SubClassOf 'carcinoma' 'vulvar carcinoma' SubClassOf 'vulva cancer' http://www.ebi.ac.uk/efo/EFO_0002920 vulva sarcoma 'vulva sarcoma' SubClassOf 'vulva cancer' 'vulva sarcoma' SubClassOf 'vulva cancer' http://www.ebi.ac.uk/efo/EFO_0002945 familial cardiomyopathy 'familial cardiomyopathy' SubClassOf 'cardiomyopathy' 'familial cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0000311 cancer 'cancer' SubClassOf 'neoplasm' 'cancer' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma 'carcinoma' SubClassOf 'cancer' 'carcinoma' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma 'breast carcinoma' SubClassOf 'carcinoma' 'breast carcinoma' SubClassOf 'breast cancer' 'breast carcinoma' SubClassOf 'carcinoma' 'breast carcinoma' SubClassOf 'breast cancer' http://www.ebi.ac.uk/efo/EFO_0000308 bronchoalveolar adenocarcinoma 'bronchoalveolar adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'bronchoalveolar adenocarcinoma' SubClassOf 'lung adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_94056 Humero-ulnar synostosis 'Humero-ulnar synostosis' SubClassOf 'Joint formation defects' 'Humero-ulnar synostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1186 Infantile onset spinocerebellar ataxia 'Infantile onset spinocerebellar ataxia' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Infantile onset spinocerebellar ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Infantile onset spinocerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008404 scalp-ear-nipple syndrome 'scalp-ear-nipple syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'scalp-ear-nipple syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1182 Spastic ataxia with congenital miosis 'Spastic ataxia with congenital miosis' SubClassOf 'Autosomal dominant spastic ataxia' 'Spastic ataxia with congenital miosis' SubClassOf 'Rare hereditary ataxia' http://www.ebi.ac.uk/efo/EFO_0000330 childhood acute myeloid leukemia 'childhood acute myeloid leukemia' SubClassOf 'inherited acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1000300 Ileal Neuroendocrine Tumor G1 'Ileal Neuroendocrine Tumor G1' SubClassOf 'small intestinal neuroendocrine tumor G1' 'Ileal Neuroendocrine Tumor G1' SubClassOf 'small intestinal neuroendocrine tumor G1' http://www.ebi.ac.uk/efo/EFO_0000333 chondrosarcoma 'chondrosarcoma' SubClassOf 'sarcoma' 'chondrosarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0000337 chronic gastritis 'chronic gastritis' SubClassOf 'gastritis' 'chronic gastritis' SubClassOf 'gastritis' http://www.ebi.ac.uk/efo/EFO_1000307 Invasive Breast Carcinoma 'Invasive Breast Carcinoma' SubClassOf 'breast carcinoma' 'Invasive Breast Carcinoma' SubClassOf 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_108959 Non-syndromic esophageal malformation 'Non-syndromic esophageal malformation' SubClassOf 'Esophageal malformation' 'Non-syndromic esophageal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1198 Colonic atresia 'Colonic atresia' SubClassOf 'Non-syndromic intestinal malformation' 'Colonic atresia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1195 Congenital atransferrinemia 'Congenital atransferrinemia' SubClassOf 'Disorder of iron metabolism and transport' 'Congenital atransferrinemia' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Congenital atransferrinemia' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_1192 Atherosclerosis - deafness - diabetes - epilepsy - nephropathy 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Epilepsy syndrome' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Rare genetic epilepsy' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Genetic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0008411 ulnar-mammary syndrome 'ulnar-mammary syndrome' SubClassOf 'dysostosis of genetic origin' 'ulnar-mammary syndrome' SubClassOf 'congenital limb malformation' 'ulnar-mammary syndrome' SubClassOf 'non-syndromic limb reduction defect' http://www.ebi.ac.uk/efo/EFO_1000317 Lacrimal Gland Adenoid Cystic Carcinoma 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'lacrimal gland adenocarcinoma' 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'lacrimal gland adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_1190 Atelosteogenesis type I 'Atelosteogenesis type I' SubClassOf 'Filamin-related bone disorder' 'Atelosteogenesis type I' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Atelosteogenesis type I' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Atelosteogenesis type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia 'septooptic dysplasia' SubClassOf 'syndromic disease' 'septooptic dysplasia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008426 Shprintzen-Goldberg syndrome 'Shprintzen-Goldberg syndrome' SubClassOf 'syndromic intellectual disability' 'Shprintzen-Goldberg syndrome' SubClassOf 'syndromic craniosynostosis' 'Shprintzen-Goldberg syndrome' SubClassOf 'syndromic intellectual disability' 'Shprintzen-Goldberg syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0021400 polyp of colon 'polyp of colon' SubClassOf 'polyp of large intestine' 'polyp of colon' SubClassOf 'polyp of large intestine' http://purl.obolibrary.org/obo/MONDO_0008425 omphalocele syndrome, Shprintzen-Goldberg type 'omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'syndromic intellectual disability' 'omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_69076 Renal glucosuria 'Renal glucosuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Renal glucosuria' SubClassOf 'Glucose transport disorder' 'Renal glucosuria' SubClassOf 'Disorder of carbohydrate metabolism' 'Renal glucosuria' SubClassOf 'Rare genetic renal disease' http://purl.obolibrary.org/obo/MONDO_0008434 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'syndromic intellectual disability' 'Smith-Magenis syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000342 chronic pancreatitis 'chronic pancreatitis' SubClassOf 'pancreatitis' 'chronic pancreatitis' SubClassOf 'pancreatitis' http://www.orpha.net/ORDO/Orphanet_69088 Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Ectodermal dysplasia syndrome' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Syndromic lymphedema' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Osteopetrosis' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Primary bone dysplasia' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Rare genetic skin disease' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_69085 Limb-mammary syndrome 'Limb-mammary syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Limb-mammary syndrome' SubClassOf 'EEC syndrome and related syndrome' 'Limb-mammary syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69084 Pure hair and nail ectodermal dysplasia 'Pure hair and nail ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Pure hair and nail ectodermal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69083 Ectodermal dysplasia with natal teeth, Turnpenny type 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69082 Odonto-tricho-ungual-digito-palmar syndrome 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000339 Lymphangiosarcoma 'Lymphangiosarcoma' SubClassOf 'sarcoma' 'Lymphangiosarcoma' SubClassOf 'sarcoma' http://www.orpha.net/ORDO/Orphanet_1264 Tricho-retino-dento-digital syndrome 'Tricho-retino-dento-digital syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Tricho-retino-dento-digital syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1260 Sino-auricular heart block 'Sino-auricular heart block' SubClassOf 'Genetic cardiac rhythm disease' 'Sino-auricular heart block' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome 'delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome' SubClassOf 'syndromic intellectual disability' 'delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_1266 Dermato-cardio-skeletal syndrome, Borrone type 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1276 Brachydactyly - arterial hypertension 'Brachydactyly - arterial hypertension' SubClassOf 'Genetic hypertension' 'Brachydactyly - arterial hypertension' SubClassOf 'Rare genetic renal disease' http://www.orpha.net/ORDO/Orphanet_1272 Fine-Lubinsky syndrome 'Fine-Lubinsky syndrome' SubClassOf 'Syndromic cataract' 'Fine-Lubinsky syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fine-Lubinsky syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Fine-Lubinsky syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1277 Brachydactyly - mesomelia - intellectual disability - heart defects 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_0000248 alveolar rhabdomyosarcoma 'alveolar rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'alveolar rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0021416 polyp of gallbladder 'polyp of gallbladder' SubClassOf 'polyp' 'polyp of gallbladder' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin 'benign neoplasm of skin' SubClassOf 'skin neoplasm' 'benign neoplasm of skin' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0021444 benign neoplasm of large intestine 'benign neoplasm of large intestine' SubClassOf 'intestinal benign neoplasm' 'benign neoplasm of large intestine' SubClassOf 'intestinal benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021445 benign neoplasm of oral cavity 'benign neoplasm of oral cavity' SubClassOf 'mouth neoplasm' 'benign neoplasm of oral cavity' SubClassOf 'mouth neoplasm' http://purl.obolibrary.org/obo/MONDO_0008467 Czeizel-Losonci syndrome 'Czeizel-Losonci syndrome' SubClassOf 'syndromic intellectual disability' 'Czeizel-Losonci syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000275 atrial fibrillation 'atrial fibrillation' SubClassOf 'cardiac rhythm disease' 'atrial fibrillation' SubClassOf 'cardiac rhythm disease' http://www.ebi.ac.uk/efo/EFO_0000278 pancreatitis 'pancreatitis' SubClassOf 'pancreas disease' 'pancreatitis' SubClassOf 'inflammatory disease' 'pancreatitis' SubClassOf 'pancreas disease' 'pancreatitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0008471 spondyloepiphyseal dysplasia congenita 'spondyloepiphyseal dysplasia congenita' SubClassOf 'hereditary disorder of connective tissue' 'spondyloepiphyseal dysplasia congenita' SubClassOf 'type 2 collagenopathy' 'spondyloepiphyseal dysplasia congenita' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0021449 benign neoplasm of stomach 'benign neoplasm of stomach' SubClassOf 'stomach neoplasm' 'benign neoplasm of stomach' SubClassOf 'stomach neoplasm' http://www.orpha.net/ORDO/Orphanet_1297 Branchio-oculo-facial syndrome 'Branchio-oculo-facial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Branchio-oculo-facial syndrome' SubClassOf 'Orofacial clefting syndrome' 'Branchio-oculo-facial syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_1295 Brachytelephalangy - dysmorphism - Kallmann syndrome 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1293 Brachyolmia 'Brachyolmia' SubClassOf 'Spondylodysplastic dysplasia' 'Brachyolmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008479 spondylometaphyseal dysplasia, 'corner fracture' type 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'type 2 collagenopathy' 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008478 spondylometaphyseal dysplasia, Schmidt type 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'type 2 collagenopathy' 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'hereditary disorder of connective tissue' 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, Kozlowski type 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'TRPV4-related bone disorder' 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'TRPV4-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0008476 spondyloepimetaphyseal dysplasia, Strudwick type 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'hereditary disorder of connective tissue' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'type 2 collagenopathy' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0008473 spondyloepimetaphyseal dysplasia, Maroteaux type 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf 'TRPV4-related bone disorder' 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf 'TRPV4-related bone disorder' http://www.orpha.net/ORDO/Orphanet_1299 Branchio-skeleto-genital syndrome 'Branchio-skeleto-genital syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Branchio-skeleto-genital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Branchio-skeleto-genital syndrome' SubClassOf 'Genetic urogenital tract malformation' 'Branchio-skeleto-genital syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_216796 Osteogenesis imperfecta type 1 'Osteogenesis imperfecta type 1' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021439 benign neoplasm of pituitary gland 'benign neoplasm of pituitary gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of pituitary gland' SubClassOf 'Benign Brain Neoplasm' 'benign neoplasm of pituitary gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of pituitary gland' SubClassOf 'Benign Brain Neoplasm' http://purl.obolibrary.org/obo/MONDO_0021460 benign neoplasm of salivary gland 'benign neoplasm of salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' 'benign neoplasm of salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' http://purl.obolibrary.org/obo/MONDO_0021462 benign neoplasm of rectum 'benign neoplasm of rectum' SubClassOf 'benign neoplasm of large intestine' 'benign neoplasm of rectum' SubClassOf 'rectal neoplasm' 'benign neoplasm of rectum' SubClassOf 'benign neoplasm of large intestine' 'benign neoplasm of rectum' SubClassOf 'rectal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021463 benign neoplasm of parathyroid gland 'benign neoplasm of parathyroid gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of parathyroid gland' SubClassOf 'tumor of parathyroid gland' 'benign neoplasm of parathyroid gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of parathyroid gland' SubClassOf 'tumor of parathyroid gland' http://www.ebi.ac.uk/efo/EFO_0000294 bladder tumor 'bladder tumor' SubClassOf 'bladder disease' 'bladder tumor' SubClassOf 'urinary system neoplasm' 'bladder tumor' SubClassOf 'bladder disease' 'bladder tumor' SubClassOf 'urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0008488 holoprosencephaly-radial heart renal anomalies syndrome 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008493 overhydrated hereditary stomatocytosis 'overhydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' 'overhydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'syndromic genetic hearing loss' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800087 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0021468 benign neoplasm of adrenal medulla 'benign neoplasm of adrenal medulla' SubClassOf 'benign neoplasm of adrenal gland' 'benign neoplasm of adrenal medulla' SubClassOf 'benign neoplasm of adrenal gland' http://purl.obolibrary.org/obo/MONDO_0021469 benign neoplasm of anus 'benign neoplasm of anus' SubClassOf 'anal neoplasm' 'benign neoplasm of anus' SubClassOf 'anal neoplasm' http://www.orpha.net/ORDO/Orphanet_94068 Spondyloepiphyseal dysplasia congenita 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia congenita' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_94066 Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_94065 15q24 microdeletion syndrome '15q24 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q24 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q24 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' '15q24 microdeletion syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_94064 Deafness-infertility syndrome 'Deafness-infertility syndrome' SubClassOf 'Male infertility due to sperm motility disorder' 'Deafness-infertility syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-infertility syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' 'Deafness-infertility syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021450 benign neoplasm of heart 'benign neoplasm of heart' SubClassOf 'thoracic benign neoplasm' 'benign neoplasm of heart' SubClassOf 'thoracic benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021452 benign neoplasm of cornea 'benign neoplasm of cornea' SubClassOf 'benign neoplasm of eye' 'benign neoplasm of cornea' SubClassOf 'benign neoplasm of eye' http://www.ebi.ac.uk/efo/EFO_0000280 Barrett's esophagus 'Barrett's esophagus' SubClassOf 'esophageal disease' 'Barrett's esophagus' SubClassOf 'esophageal disease' http://www.ebi.ac.uk/efo/EFO_0000284 benign prostatic hyperplasia 'benign prostatic hyperplasia' SubClassOf 'prostate disease' 'benign prostatic hyperplasia' SubClassOf 'prostate disease' http://www.ebi.ac.uk/efo/EFO_0000289 bipolar disorder 'bipolar disorder' SubClassOf 'mood disorder' 'bipolar disorder' SubClassOf 'mood disorder' http://www.orpha.net/ORDO/Orphanet_1243 Best vitelliform macular dystrophy 'Best vitelliform macular dystrophy' SubClassOf 'Genetic macular dystrophy' 'Best vitelliform macular dystrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_1240 Metaphyseal acroscyphodysplasia 'Metaphyseal acroscyphodysplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal acroscyphodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021487 benign neoplasm of choroid 'benign neoplasm of choroid' SubClassOf 'benign neoplasm of eye' 'benign neoplasm of choroid' SubClassOf 'benign neoplasm of eye' http://purl.obolibrary.org/obo/MONDO_0021489 benign neoplasm of sweat gland 'benign neoplasm of sweat gland' SubClassOf 'sweat gland neoplasm' 'benign neoplasm of sweat gland' SubClassOf 'sweat gland neoplasm' http://www.orpha.net/ORDO/Orphanet_1248 Maxillonasal dysplasia 'Maxillonasal dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1246 Brachydactyly - nystagmus - cerebellar ataxia 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_94089 Pseudohypoparathyroidism type 1B 'Pseudohypoparathyroidism type 1B' SubClassOf 'Pseudohypoparathyroidism' 'Pseudohypoparathyroidism type 1B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_94088 Hereditary renal hypouricemia 'Hereditary renal hypouricemia' SubClassOf 'Genetic renal tubular disease' 'Hereditary renal hypouricemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_94086 Blue diaper syndrome 'Blue diaper syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Blue diaper syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1252 Blepharonasofacial malformation syndrome 'Blepharonasofacial malformation syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Blepharonasofacial malformation syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Blepharonasofacial malformation syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021476 benign neoplasm of tongue 'benign neoplasm of tongue' SubClassOf 'tongue neoplasm' 'benign neoplasm of tongue' SubClassOf 'tongue neoplasm' http://www.orpha.net/ORDO/Orphanet_1259 Blepharoptosis - myopia - ectopia lentis 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'Lens position anomaly' 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'Non-syndromic developmental defect of the eye' 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'Genetic lens and zonula anomaly' 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'Genetic developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0021470 benign neoplasm of pancreas 'benign neoplasm of pancreas' SubClassOf 'pancreatic neoplasm' 'benign neoplasm of pancreas' SubClassOf 'pancreatic neoplasm' http://www.orpha.net/ORDO/Orphanet_1256 Blepharophimosis - radioulnar synostosis 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Ptosis' 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Kinetic eyelid anomaly' http://www.orpha.net/ORDO/Orphanet_94090 Pseudohypoparathyroidism type 2 'Pseudohypoparathyroidism type 2' SubClassOf 'Pseudohypoparathyroidism' 'Pseudohypoparathyroidism type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_94095 Spondylocostal dysostosis - anal and genitourinary malformations 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Syndromic anorectal malformation' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Syndromic urogenital tract malformation' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Genetic urogenital tract malformation' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_309331 Intermediate severe Salla disease 'Intermediate severe Salla disease' SubClassOf 'Free sialic acid storage disease' 'Intermediate severe Salla disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309337 Lysosomal glycogen storage disease 'Lysosomal glycogen storage disease' SubClassOf 'Lysosomal disease' 'Lysosomal glycogen storage disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309340 Disorder of lysosomal-related organelles 'Disorder of lysosomal-related organelles' SubClassOf 'Inborn errors of metabolism' 'Disorder of lysosomal-related organelles' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021496 benign neoplasm of lip 'benign neoplasm of lip' SubClassOf 'lip neoplasm' 'benign neoplasm of lip' SubClassOf 'lip neoplasm' http://purl.obolibrary.org/obo/MONDO_0021499 benign neoplasm of cerebellum 'benign neoplasm of cerebellum' SubClassOf 'cerebellar neoplasm' 'benign neoplasm of cerebellum' SubClassOf 'Benign Brain Neoplasm' 'benign neoplasm of cerebellum' SubClassOf 'cerebellar neoplasm' 'benign neoplasm of cerebellum' SubClassOf 'Benign Brain Neoplasm' http://www.orpha.net/ORDO/Orphanet_35710 Glucose-galactose malabsorption 'Glucose-galactose malabsorption' SubClassOf 'Glucose transport disorder' 'Glucose-galactose malabsorption' SubClassOf 'Congenital intestinal transport defect' 'Glucose-galactose malabsorption' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35706 Glutaric acidemia type 3 'Glutaric acidemia type 3' SubClassOf 'Peroxisomal disease' 'Glutaric acidemia type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35705 Neurometabolic disorder due to serine deficiency 'Neurometabolic disorder due to serine deficiency' SubClassOf 'Disorder of serine or glycine metabolism' 'Neurometabolic disorder due to serine deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35704 Arginine:glycine amidinotransferase deficiency 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'Neurometabolic disease' 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_35708 Aromatic L-amino acid decarboxylase deficiency 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'Disorder of catecholamine synthesis' 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'Neurometabolic disease' 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309347 Disorder of protein N-glycosylation 'Disorder of protein N-glycosylation' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'Disorder of protein N-glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of protein N-glycosylation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309310 Mucopolysaccharidosis type 4B 'Mucopolysaccharidosis type 4B' SubClassOf 'Mucopolysaccharidosis type 4' 'Mucopolysaccharidosis type 4B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1202 Larynx atresia 'Larynx atresia' SubClassOf 'Larynx anomaly' 'Larynx atresia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1203 Duodenal atresia 'Duodenal atresia' SubClassOf 'Non-syndromic gastroduodenal malformation' 'Duodenal atresia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1200 Choanal atresia-deafness-cardiac defects-dysmorphism syndrome 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1201 Atresia of small intestine 'Atresia of small intestine' SubClassOf 'Non-syndromic intestinal malformation' 'Atresia of small intestine' SubClassOf 'Primary short bowel syndrome' 'Atresia of small intestine' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35737 Morning glory syndrome 'Morning glory syndrome' SubClassOf 'Optic neuropathy' 'Morning glory syndrome' SubClassOf 'developmental defect of the eye' 'Morning glory syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'Congenitally uncorrected transposition of the great arteries' 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309319 Disorder of sialic acid metabolism 'Disorder of sialic acid metabolism' SubClassOf 'Lysosomal disease' 'Disorder of sialic acid metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1217 Spinal atrophy - ophthalmoplegia - pyramidal syndrome 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'Generalized bulbospinal muscular atrophy' 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'Genetic motor neuron disease' http://www.orpha.net/ORDO/Orphanet_1215 Autosomal dominant optic atrophy plus syndrome 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1216 Autosomal dominant congenital benign spinal muscular atrophy 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309324 Free sialic acid storage disease, infantile form 'Free sialic acid storage disease, infantile form' SubClassOf 'Free sialic acid storage disease' 'Free sialic acid storage disease, infantile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216718 Isolated congenitally uncorrected transposition of the great arteries 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'Congenitally uncorrected transposition of the great arteries' 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_157962 Oculoauricular syndrome, Schorderet type 'Oculoauricular syndrome, Schorderet type' SubClassOf 'Major induction processes eye anomaly' 'Oculoauricular syndrome, Schorderet type' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_157949 Combined immunodeficiency with skin granulomas 'Combined immunodeficiency with skin granulomas' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency with skin granulomas' SubClassOf 'Genetic immune deficiency with skin involvement' 'Combined immunodeficiency with skin granulomas' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324924 Hereditary periodic fever syndrome 'Hereditary periodic fever syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hereditary periodic fever syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33110 Autosomal agammaglobulinemia 'Autosomal agammaglobulinemia' SubClassOf 'Isolated agammaglobulinemia' 'Autosomal agammaglobulinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33108 Lethal multiple pterygium syndrome 'Lethal multiple pterygium syndrome' SubClassOf 'inherited epidermolysis bullosa' 'Lethal multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Lethal multiple pterygium syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lethal multiple pterygium syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_157973 Congenital muscular dystrophy due to LMNA mutation 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324575 Hyperinsulinism due to HNF1A deficiency 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to HNF1A deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324569 Pontocerebellar hypoplasia type 8 'Pontocerebellar hypoplasia type 8' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_104007 Congenital enteropathy involving intestinal mucosa development 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'Genetic intestinal disease' 'Congenital enteropathy involving intestinal mucosa development' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_104004 Intestinal disease due to vitamin absorption anomaly 'Intestinal disease due to vitamin absorption anomaly' SubClassOf 'malabsorption syndrome' 'Intestinal disease due to vitamin absorption anomaly' SubClassOf 'Genetic intestinal disease' 'Intestinal disease due to vitamin absorption anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_104003 Congenital intestinal transport defect 'Congenital intestinal transport defect' SubClassOf 'Genetic intestinal disease' 'Congenital intestinal transport defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_45358 Congenital fibrosis of extraocular muscles 'Congenital fibrosis of extraocular muscles' SubClassOf 'Progressive muscular dystrophy' 'Congenital fibrosis of extraocular muscles' SubClassOf 'Syndrome with a symptomatic strabismus' 'Congenital fibrosis of extraocular muscles' SubClassOf 'Ptosis' 'Congenital fibrosis of extraocular muscles' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000013 Prinzmetal's angina 'Prinzmetal's angina' SubClassOf 'Coronary Vasospasm' 'Prinzmetal's angina' SubClassOf 'Coronary Vasospasm' http://www.ebi.ac.uk/efo/EFO_1000012 Rienhoff syndrome 'Rienhoff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 http://www.orpha.net/ORDO/Orphanet_141000 Orofaciodigital syndrome type 11 'Orofaciodigital syndrome type 11' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 11' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome type 11' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Orofaciodigital syndrome type 11' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.ebi.ac.uk/efo/EFO_1000017 autosomal recessive disease 'autosomal recessive disease' SubClassOf 'autosomal genetic disease' 'autosomal recessive disease' SubClassOf 'autosomal genetic disease' http://www.orpha.net/ORDO/Orphanet_324540 Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_1000018 bladder disease 'bladder disease' SubClassOf 'urinary system disease' 'bladder disease' SubClassOf 'urinary system disease' http://www.ebi.ac.uk/efo/EFO_1000025 cystitis 'cystitis' SubClassOf 'bladder disease' 'cystitis' SubClassOf 'inflammatory disease' 'cystitis' SubClassOf 'bladder disease' 'cystitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1000023 chronic cystitis 'chronic cystitis' SubClassOf 'cystitis' 'chronic cystitis' SubClassOf 'cystitis' http://www.ebi.ac.uk/efo/EFO_0000612 myocardial infarction 'myocardial infarction' SubClassOf 'myocardial disorder' 'myocardial infarction' SubClassOf 'myocardial disorder' http://www.ebi.ac.uk/efo/EFO_0000616 neoplasm 'neoplasm' DisjointWith 'pigmented villonodular synovitis' http://www.orpha.net/ORDO/Orphanet_324535 Combined oxidative phosphorylation defect type 11 'Combined oxidative phosphorylation defect type 11' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 11' SubClassOf 'Neurometabolic disease' 'Combined oxidative phosphorylation defect type 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000037 lung carcinoid tumor 'lung carcinoid tumor' SubClassOf 'carcinoid tumor' 'lung carcinoid tumor' SubClassOf 'pulmonary neuroendocrine tumor' 'lung carcinoid tumor' SubClassOf 'carcinoid tumor' 'lung carcinoid tumor' SubClassOf 'pulmonary neuroendocrine tumor' http://www.ebi.ac.uk/efo/EFO_1000035 infectious colitis 'infectious colitis' SubClassOf 'colitis' 'infectious colitis' SubClassOf 'colitis' http://www.orpha.net/ORDO/Orphanet_104078 Unclassified intestinal pseudoobstruction 'Unclassified intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' 'Unclassified intestinal pseudoobstruction' SubClassOf 'Congenital intestinal motility disorder' http://www.ebi.ac.uk/efo/EFO_1000034 indeterminate colitis 'indeterminate colitis' SubClassOf 'colitis' 'indeterminate colitis' SubClassOf 'colitis' http://www.orpha.net/ORDO/Orphanet_104077 Myopathic intestinal pseudoobstruction 'Myopathic intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' 'Myopathic intestinal pseudoobstruction' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300573 Polymicrogyria due to TUBB2B mutation 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'Bilateral frontal polymicrogyria' 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'Non-syndromic cerebral malformation due to abnormal neuronal migration' 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_324525 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Primary renal tubular acidosis' 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000041 nephrosclerosis 'nephrosclerosis' SubClassOf 'renal artery disease' 'nephrosclerosis' SubClassOf 'renal artery disease' http://www.ebi.ac.uk/efo/EFO_1000049 pulmonary tuberculosis 'pulmonary tuberculosis' SubClassOf 'Tuberculosis' 'pulmonary tuberculosis' SubClassOf 'tuberculosis' 'pulmonary tuberculosis' SubClassOf 'tuberculosis' http://www.ebi.ac.uk/efo/EFO_1000046 papillary lung adenocarcinoma 'papillary lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'papillary lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000044 pancreatic adenocarcinoma 'pancreatic adenocarcinoma' SubClassOf 'adenocarcinoma' 'pancreatic adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_300547 Autosomal recessive infantile hypercalcemia 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Rare genetic renal disease' http://www.ebi.ac.uk/efo/EFO_1000051 reproductive system neoplasm 'reproductive system neoplasm' SubClassOf 'urogenital neoplasm' 'reproductive system neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000650 whooping cough 'whooping cough' SubClassOf 'bordetellosis' 'whooping cough' SubClassOf 'bordetellosis' http://purl.obolibrary.org/obo/MONDO_0011907 acrocapitofemoral dysplasia 'acrocapitofemoral dysplasia' SubClassOf 'acromelic dysplasia' 'acrocapitofemoral dysplasia' SubClassOf 'genetic disorder' 'acrocapitofemoral dysplasia' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011902 Charcot-Marie-Tooth disease type 1F 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://www.ebi.ac.uk/efo/EFO_0000647 experiment performer 'experiment performer' SubClassOf 'characteristic of' some ('Homo sapiens' and 'organization') 'experiment performer' SubClassOf 'role_of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0000649 periodontitis 'periodontitis' SubClassOf 'inflammatory disease' 'periodontitis' SubClassOf 'periodontal disorder' 'periodontitis' SubClassOf 'inflammatory disease' 'periodontitis' SubClassOf 'periodontal disorder' http://www.ebi.ac.uk/efo/EFO_0009005 premature menopause 'premature menopause' SubClassOf 'ovarian dysfunction' 'premature menopause' SubClassOf 'primary ovarian insufficiency' 'premature menopause' SubClassOf 'ovarian dysfunction' 'premature menopause' SubClassOf 'primary ovarian insufficiency' http://www.ebi.ac.uk/efo/EFO_0009003 ovarian dysfunction 'ovarian dysfunction' SubClassOf 'ovarian disease' 'ovarian dysfunction' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_0000673 prostate adenocarcinoma 'prostate adenocarcinoma' SubClassOf 'adenocarcinoma' 'prostate adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000660 polycystic ovary syndrome 'polycystic ovary syndrome' SubClassOf 'endocrine system disease' 'polycystic ovary syndrome' SubClassOf 'endocrine system disease' http://www.orpha.net/ORDO/Orphanet_263463 CHST3-related skeletal dysplasia 'CHST3-related skeletal dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'CHST3-related skeletal dysplasia' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'CHST3-related skeletal dysplasia' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'CHST3-related skeletal dysplasia' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'CHST3-related skeletal dysplasia' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'CHST3-related skeletal dysplasia' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'CHST3-related skeletal dysplasia' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'CHST3-related skeletal dysplasia' SubClassOf 'inborn errors of metabolism' 'CHST3-related skeletal dysplasia' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0011939 Spondyloenchondrodysplasia with immune dysregulation 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'spondylometaphyseal dysplasia' 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'spondylometaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0009029 Central precocious puberty 'Central precocious puberty' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Central precocious puberty' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0000691 sarcoma 'sarcoma' SubClassOf 'cancer' 'sarcoma' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0011934 dermatofibrosarcoma protuberans 'dermatofibrosarcoma protuberans' SubClassOf 'fibrosarcoma' 'dermatofibrosarcoma protuberans' SubClassOf 'inherited skin tumor' 'dermatofibrosarcoma protuberans' SubClassOf 'fibrosarcoma' 'dermatofibrosarcoma protuberans' SubClassOf 'inherited skin tumor' http://www.ebi.ac.uk/efo/EFO_0000694 severe acute respiratory syndrome 'severe acute respiratory syndrome' SubClassOf 'respiratory system disease' 'severe acute respiratory syndrome' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0009016 Ataxia-oculomotor apraxia type 4 'Ataxia-oculomotor apraxia type 4' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' 'Ataxia-oculomotor apraxia type 4' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Ataxia-oculomotor apraxia type 4' SubClassOf 'Early-onset ataxia with dementia' 'Ataxia-oculomotor apraxia type 4' SubClassOf 'Rare hereditary ataxia' http://www.ebi.ac.uk/efo/EFO_0009011 Arteritis 'Arteritis' SubClassOf 'vasculitis' 'Arteritis' SubClassOf 'arterial disorder' 'Arteritis' SubClassOf 'vasculitis' 'Arteritis' SubClassOf 'arterial disorder' http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma 'renal cell carcinoma' SubClassOf 'adenocarcinoma' 'renal cell carcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0011948 pontocerebellar hypoplasia type 3 'pontocerebellar hypoplasia type 3' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 3' SubClassOf 'pontocerebellar hypoplasia' http://www.ebi.ac.uk/efo/EFO_0000685 rheumatoid arthritis 'rheumatoid arthritis' SubClassOf 'arthritis' 'rheumatoid arthritis' SubClassOf 'rheumatic disease' 'rheumatoid arthritis' SubClassOf 'arthritis' 'rheumatoid arthritis' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0011946 diaphanospondylodysostosis 'diaphanospondylodysostosis' SubClassOf 'dysostosis of genetic origin' 'diaphanospondylodysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800075 http://www.ebi.ac.uk/efo/EFO_0009020 Aymé-Gripp syndrome 'Aymé-Gripp syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aymé-Gripp syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_0009049 Juvenile nephropathic cystinosis 'Juvenile nephropathic cystinosis' SubClassOf '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' http://purl.obolibrary.org/obo/MONDO_0008305 Currarino triad 'Currarino triad' SubClassOf 'dysostosis of genetic origin' 'Currarino triad' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800075 http://purl.obolibrary.org/obo/MONDO_0008300 Prader-Willi syndrome 'Prader-Willi syndrome' SubClassOf 'chromosomal disorder' 'Prader-Willi syndrome' SubClassOf 'complex neurodevelopmental disorder' 'Prader-Willi syndrome' SubClassOf 'chromosomal disorder' 'Prader-Willi syndrome' SubClassOf 'complex neurodevelopmental disorder' http://www.ebi.ac.uk/efo/EFO_0009050 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 'Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0008318 Proteus syndrome 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer 'prostate cancer' SubClassOf 'male reproductive organ cancer' 'prostate cancer' SubClassOf 'male reproductive organ cancer' http://purl.obolibrary.org/obo/MONDO_0008310 Hutchinson-Gilford progeria syndrome 'Hutchinson-Gilford progeria syndrome' SubClassOf 'primary osteolysis' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'primary osteolysis' http://www.orpha.net/ORDO/Orphanet_324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324581 Benign Samaritan congenital myopathy 'Benign Samaritan congenital myopathy' SubClassOf 'Congenital myopathy' 'Benign Samaritan congenital myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011961 hereditary sensory and autonomic neuropathy type 1B 'hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'hereditary sensory and autonomic neuropathy type 1' 'hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'hereditary sensory and autonomic neuropathy type 1' http://www.ebi.ac.uk/efo/EFO_0009040 Cranio-cervical dystonia with laryngeal and upper-limb involvement 'Cranio-cervical dystonia with laryngeal and upper-limb involvement' SubClassOf 'Focal, segmental or multifocal dystonia' 'Cranio-cervical dystonia with laryngeal and upper-limb involvement' SubClassOf 'Rare genetic dystonia' http://www.ebi.ac.uk/efo/EFO_0009043 Familial porphyria cutanea tarda 'Familial porphyria cutanea tarda' SubClassOf 'Porphyria cutanea tarda' 'Familial porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' 'Familial porphyria cutanea tarda' SubClassOf 'Rare genetic renal disease' 'Familial porphyria cutanea tarda' SubClassOf 'Genodermatosis with ocular features' 'Familial porphyria cutanea tarda' SubClassOf 'Genetic photodermatosis' 'Familial porphyria cutanea tarda' SubClassOf 'Disorder of porphyrin and haem metabolism' 'Familial porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' 'Familial porphyria cutanea tarda' SubClassOf 'Metabolic disease with skin involvement' http://purl.obolibrary.org/obo/MONDO_0008322 pseudoachondroplasia 'pseudoachondroplasia' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' 'pseudoachondroplasia' SubClassOf 'genetic disorder' 'pseudoachondroplasia' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' 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 'Disorder of thiamine metabolism and transport' 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'participates_in' some (('thiamine metabolic process' and ('has component' some 'abnormal')) and ('vitamin transport' and ('has component' some 'abnormal'))) 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'vitamin metabolic disorder' 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' http://www.orpha.net/ORDO/Orphanet_238455 Infantile dystonia-parkinsonism 'Infantile dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'Infantile dystonia-parkinsonism' SubClassOf 'Rare genetic dystonia' http://purl.obolibrary.org/obo/MONDO_0011972 ovarian hyperstimulation syndrome 'ovarian hyperstimulation syndrome' SubClassOf 'ovarian disease' 'ovarian hyperstimulation syndrome' SubClassOf 'ovarian disease' http://purl.obolibrary.org/obo/MONDO_0021303 adenoma of small intestine 'adenoma of small intestine' SubClassOf 'small intestine neoplasm' 'adenoma of small intestine' SubClassOf 'small intestine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021309 malignant neoplasm of endocervix 'malignant neoplasm of endocervix' SubClassOf 'cervical cancer' 'malignant neoplasm of endocervix' SubClassOf 'cervical cancer' http://purl.obolibrary.org/obo/MONDO_0008337 familial pterygium of the conjunctiva 'familial pterygium of the conjunctiva' SubClassOf 'Benign Conjunctival Neoplasm' 'familial pterygium of the conjunctiva' SubClassOf 'benign neoplasm of cornea' 'familial pterygium of the conjunctiva' SubClassOf 'pterygium' 'familial pterygium of the conjunctiva' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008332 pseudo-von Willebrand disease 'pseudo-von Willebrand disease' SubClassOf 'inherited bleeding disorder, platelet-type' 'pseudo-von Willebrand disease' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0011984 synpolydactyly type 2 'synpolydactyly type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0021320 malignant tumor of floor of mouth 'malignant tumor of floor of mouth' SubClassOf 'neoplasm of floor of mouth' 'malignant tumor of floor of mouth' SubClassOf 'neoplasm of floor of mouth' http://purl.obolibrary.org/obo/MONDO_0021321 malignant tumor of extrahepatic bile duct 'malignant tumor of extrahepatic bile duct' SubClassOf 'extrahepatic bile duct neoplasm' 'malignant tumor of extrahepatic bile duct' SubClassOf 'extrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0021322 malignant tumor of meninges 'malignant tumor of meninges' SubClassOf 'meningeal neoplasm' 'malignant tumor of meninges' SubClassOf 'central nervous system cancer' 'malignant tumor of meninges' SubClassOf 'meningeal neoplasm' 'malignant tumor of meninges' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0008343 pulmonary atresia with ventricular septal defect 'pulmonary atresia with ventricular septal defect' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008340 ptosis, hereditary congenital, 1 'ptosis, hereditary congenital, 1' SubClassOf 'ptosis' 'ptosis, hereditary congenital, 1' SubClassOf 'ptosis' http://purl.obolibrary.org/obo/MONDO_0021327 carcinoma of urethra 'carcinoma of urethra' SubClassOf 'carcinoma' 'carcinoma of urethra' SubClassOf 'urethra cancer' 'carcinoma of urethra' SubClassOf 'carcinoma' 'carcinoma of urethra' SubClassOf 'urethra cancer' http://purl.obolibrary.org/obo/MONDO_0021310 malignant tumor of neck 'malignant tumor of neck' SubClassOf 'neoplasm of neck' 'malignant tumor of neck' SubClassOf 'neoplasm of neck' http://purl.obolibrary.org/obo/MONDO_0021311 malignant tumor of parathyroid gland 'malignant tumor of parathyroid gland' SubClassOf 'tumor of parathyroid gland' 'malignant tumor of parathyroid gland' SubClassOf 'tumor of parathyroid gland' http://purl.obolibrary.org/obo/MONDO_0021312 malignant tumor of adrenal cortex 'malignant tumor of adrenal cortex' SubClassOf 'adrenal gland cancer' 'malignant tumor of adrenal cortex' SubClassOf 'adrenal gland cancer' http://purl.obolibrary.org/obo/MONDO_0021313 eyelid cancer 'eyelid cancer' SubClassOf 'eyelid neoplasm' 'eyelid cancer' SubClassOf 'eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0021316 malignant tumor of minor salivary gland 'malignant tumor of minor salivary gland' SubClassOf 'neoplasm of minor salivary gland' 'malignant tumor of minor salivary gland' SubClassOf 'neoplasm of minor salivary gland' http://www.orpha.net/ORDO/Orphanet_1581 Non-distal monosomy 10q 'Non-distal monosomy 10q' SubClassOf 'Partial monosomy of the long arm of chromosome 10' 'Non-distal monosomy 10q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021343 carcinoma of floor of mouth 'carcinoma of floor of mouth' SubClassOf 'malignant tumor of floor of mouth' 'carcinoma of floor of mouth' SubClassOf 'malignant tumor of floor of mouth' http://www.orpha.net/ORDO/Orphanet_1580 Distal monosomy 10p 'Distal monosomy 10p' SubClassOf 'Partial deletion of the short arm of chromosome 10' 'Distal monosomy 10p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008369 proximal renal tubular acidosis 'proximal renal tubular acidosis' SubClassOf 'renal tubular acidosis' 'proximal renal tubular acidosis' SubClassOf 'renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0008365 recombinant 8 syndrome 'recombinant 8 syndrome' SubClassOf 'genetic disorder' 'recombinant 8 syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_263455 Hyperinsulinism due to HNF4A deficiency 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to HNF4A deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263458 Hyperinsulinism due to INSR deficiency 'Hyperinsulinism due to INSR deficiency' SubClassOf 'Familial hyperinsulinism' 'Hyperinsulinism due to INSR deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021348 neoplasm of testis 'neoplasm of testis' SubClassOf 'testicular disease' 'neoplasm of testis' SubClassOf 'testicular disease' http://www.orpha.net/ORDO/Orphanet_1590 Distal monosomy 13q 'Distal monosomy 13q' SubClassOf 'Syndromic anorectal malformation' 'Distal monosomy 13q' SubClassOf 'Partial deletion of the long arm of chromosome 13' 'Distal monosomy 13q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021335 carcinoma of duodenum 'carcinoma of duodenum' SubClassOf 'small intestine carcinoma' 'carcinoma of duodenum' SubClassOf 'duodenum cancer' 'carcinoma of duodenum' SubClassOf 'small intestine carcinoma' 'carcinoma of duodenum' SubClassOf 'duodenum cancer' http://www.orpha.net/ORDO/Orphanet_1597 Distal monosomy 17q 'Distal monosomy 17q' SubClassOf 'Partial deletion of the long arm of chromosome 17' 'Distal monosomy 17q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263440 Neuroacanthocytosis 'Neuroacanthocytosis' SubClassOf 'Huntington disease-like syndrome' 'Neuroacanthocytosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neuroacanthocytosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021337 tonsil carcinoma 'tonsil carcinoma' SubClassOf 'tonsil cancer' 'tonsil carcinoma' SubClassOf 'tonsil cancer' http://purl.obolibrary.org/obo/MONDO_0021364 neoplasm of oropharynx 'neoplasm of oropharynx' SubClassOf 'digestive system disease' 'neoplasm of oropharynx' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0021366 neoplasm of middle ear 'neoplasm of middle ear' SubClassOf 'middle ear disorder' 'neoplasm of middle ear' SubClassOf 'middle ear disorder' http://purl.obolibrary.org/obo/MONDO_0021368 neoplasm of major salivary gland 'neoplasm of major salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' 'neoplasm of major salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland 'tumor of parathyroid gland' SubClassOf 'parathyroid disease' 'tumor of parathyroid gland' SubClassOf 'parathyroid disease' http://purl.obolibrary.org/obo/MONDO_0008393 Rubinstein-Taybi syndrome due to CREBBP mutations 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800094 http://purl.obolibrary.org/obo/MONDO_0008390 Rombo syndrome 'Rombo syndrome' SubClassOf 'inherited skin tumor' 'Rombo syndrome' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax 'neoplasm of thorax' SubClassOf 'neoplasm' 'neoplasm of thorax' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021351 neoplasm of neck 'neoplasm of neck' SubClassOf 'head and neck neoplasia' 'neoplasm of neck' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0021383 neoplasm of floor of mouth 'neoplasm of floor of mouth' SubClassOf 'mouth disease' 'neoplasm of floor of mouth' SubClassOf 'head and neck neoplasia' 'neoplasm of floor of mouth' SubClassOf 'mouth disease' 'neoplasm of floor of mouth' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0021386 neoplasm of mediastinum 'neoplasm of mediastinum' SubClassOf 'neoplasm of thorax' 'neoplasm of mediastinum' SubClassOf 'neoplasm of thorax' http://www.orpha.net/ORDO/Orphanet_1547 Cryptomicrotia - brachydactyly - excess fingertip arch 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1548 Cryptorchidism - arachnodactyly - intellectual disability 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0021381 neoplasm of pericardium 'neoplasm of pericardium' SubClassOf 'neoplasm of thorax' 'neoplasm of pericardium' SubClassOf 'neoplasm of thorax' http://www.orpha.net/ORDO/Orphanet_1541 Craniosynostosis, Boston type 'Craniosynostosis, Boston type' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis, Boston type' SubClassOf 'Rare genetic bone disease' 'Craniosynostosis, Boston type' SubClassOf 'Rare genetic bone development disorder' 'Craniosynostosis, Boston type' SubClassOf 'Genetic cranial malformation' http://www.orpha.net/ORDO/Orphanet_1538 Craniosynostosis - Dandy-Walker malformation - hydrocephalus 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Familial scaphocephaly syndrome' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Rare genetic bone development disorder' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Genetic cranial malformation' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_324611 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 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1551 Familial benign copper deficiency 'Familial benign copper deficiency' SubClassOf 'Disorder of copper metabolism' 'Familial benign copper deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021375 tumor of duodenum 'tumor of duodenum' SubClassOf 'small intestine neoplasm' 'tumor of duodenum' SubClassOf 'duodenal disorder' 'tumor of duodenum' SubClassOf 'small intestine neoplasm' 'tumor of duodenum' SubClassOf 'duodenal disorder' http://www.orpha.net/ORDO/Orphanet_1555 Cutis gyrata - acanthosis nigricans - craniosynostosis 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Rare genetic bone disease' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Rare genetic bone development disorder' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Genetic cranial malformation' http://purl.obolibrary.org/obo/MONDO_0021370 neoplasm of minor salivary gland 'neoplasm of minor salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' 'neoplasm of minor salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' http://www.orpha.net/ORDO/Orphanet_324604 Classic multiminicore myopathy 'Classic multiminicore myopathy' SubClassOf 'Multiminicore myopathy' 'Classic multiminicore myopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_1562 Dacryocystitis - osteopoikilosis 'Dacryocystitis - osteopoikilosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Dacryocystitis - osteopoikilosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_33445 Neuroectodermal melanolysosomal disease 'Neuroectodermal melanolysosomal disease' SubClassOf 'Overgrowth syndrome' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Neuroectodermal melanolysosomal disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1572 Common variable immunodeficiency 'Common variable immunodeficiency' SubClassOf 'Inherited cancer-predisposing syndrome' 'Common variable immunodeficiency' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Common variable immunodeficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1573 Hypotrichosis with juvenile macular degeneration 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'Rare genetic skin disease' 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://purl.obolibrary.org/obo/MONDO_0021396 polyp of vulva 'polyp of vulva' SubClassOf 'polyp' 'polyp of vulva' SubClassOf 'polyp' http://www.orpha.net/ORDO/Orphanet_1570 Symbrachydactyly of hands and feet 'Symbrachydactyly of hands and feet' SubClassOf 'Brachydactyly' 'Symbrachydactyly of hands and feet' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021398 polyp of rectum 'polyp of rectum' SubClassOf 'polyp of large intestine' 'polyp of rectum' SubClassOf 'polyp of large intestine' http://www.orpha.net/ORDO/Orphanet_1576 Infantile bilateral striatal necrosis 'Infantile bilateral striatal necrosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Infantile bilateral striatal necrosis' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Infantile bilateral striatal necrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021392 polyp of large intestine 'polyp of large intestine' SubClassOf 'polyp' 'polyp of large intestine' SubClassOf 'polyp' http://www.orpha.net/ORDO/Orphanet_1574 Retinal degeneration - nanophthalmos - glaucoma 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'Non-syndromic developmental defect of the eye' 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_141007 Orofaciodigital syndrome type 9 'Orofaciodigital syndrome type 9' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 9' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome type 9' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofaciodigital syndrome type 9' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_300605 Juvenile amyotrophic lateral sclerosis 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'Genetic motor neuron disease' 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'familial amyotrophic lateral sclerosis' 'Juvenile amyotrophic lateral sclerosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1514 Craniodigital syndrome - intellectual disability 'Craniodigital syndrome - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Craniodigital syndrome - intellectual disability' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1515 Cranioectodermal dysplasia 'Cranioectodermal dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cranioectodermal dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Cranioectodermal dysplasia' SubClassOf 'Short rib-polydactyly syndrome' 'Cranioectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cranioectodermal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1513 Craniodiaphyseal dysplasia 'Craniodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Craniodiaphyseal dysplasia' SubClassOf 'Genetic cranial malformation' 'Craniodiaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1509 Coxopodopatellar syndrome 'Coxopodopatellar syndrome' SubClassOf 'Patellar dysostosis' 'Coxopodopatellar syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1507 Autosomal recessive Robinow syndrome 'Autosomal recessive Robinow syndrome' SubClassOf 'Robinow syndrome' 'Autosomal recessive Robinow syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1508 Coxoauricular syndrome 'Coxoauricular syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Coxoauricular syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1505 Short rib-polydactyly syndrome 'Short rib-polydactyly syndrome' SubClassOf 'Short rib dysplasia' 'Short rib-polydactyly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1506 Thin ribs - tubular bones - dysmorphism 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'Slender bone dysplasia' 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_1525 Cranio-osteoarthropathy 'Cranio-osteoarthropathy' SubClassOf 'Primary hypertrophic osteoarthropathy' 'Cranio-osteoarthropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1524 Craniomicromelic syndrome 'Craniomicromelic syndrome' SubClassOf 'Syndromic craniosynostosis' 'Craniomicromelic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1521 Craniofrontonasal dysplasia - Poland anomaly 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'Frontonasal dysplasia' 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'Rare genetic bone development disorder' 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_1522 Craniometaphyseal dysplasia 'Craniometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Craniometaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1520 Craniofrontonasal dysplasia 'Craniofrontonasal dysplasia' SubClassOf 'Acrofacial dysostosis' 'Craniofrontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Craniofrontonasal dysplasia' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Craniofrontonasal dysplasia' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_1519 Hypertelorism, Teebi type 'Hypertelorism, Teebi type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertelorism, Teebi type' SubClassOf 'Frontonasal dysplasia' 'Hypertelorism, Teebi type' SubClassOf 'Rare genetic bone disease' 'Hypertelorism, Teebi type' SubClassOf 'Rare genetic bone development disorder' http://www.orpha.net/ORDO/Orphanet_1516 Craniofacial dyssynostosis 'Craniofacial dyssynostosis' SubClassOf 'Genetic cranial malformation' 'Craniofacial dyssynostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1517 Hypertrichotic osteochondrodysplasia, Cantu type 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'Rare genetic bone development disorder' 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_1533 Craniosynostosis - fibular aplasia 'Craniosynostosis - fibular aplasia' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - fibular aplasia' SubClassOf 'Genetic cranial malformation' 'Craniosynostosis - fibular aplasia' SubClassOf 'Rare genetic bone disease' 'Craniosynostosis - fibular aplasia' SubClassOf 'Rare genetic bone development disorder' http://www.orpha.net/ORDO/Orphanet_1530 Craniosynostosis - cataract 'Craniosynostosis - cataract' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - cataract' SubClassOf 'Rare genetic bone development disorder' 'Craniosynostosis - cataract' SubClassOf 'Genetic cranial malformation' 'Craniosynostosis - cataract' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_1531 Craniosynostosis 'Craniosynostosis' SubClassOf 'Genetic cranial malformation' 'Craniosynostosis' SubClassOf 'Dysostosis of genetic origin' 'Craniosynostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1529 Craniofacial-deafness-hand syndrome 'Craniofacial-deafness-hand syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Craniofacial-deafness-hand syndrome' SubClassOf 'Syndromic genetic deafness' 'Craniofacial-deafness-hand syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1527 Craniosynostosis, Philadelphia type 'Craniosynostosis, Philadelphia type' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Craniosynostosis, Philadelphia type' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis, Philadelphia type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1528 Craniotelencephalic dysplasia 'Craniotelencephalic dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Craniotelencephalic dysplasia' SubClassOf 'Other syndrome with lissencephaly as a major feature' 'Craniotelencephalic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000103 Bartholin Gland Carcinoma 'Bartholin Gland Carcinoma' SubClassOf 'vulvar carcinoma' 'Bartholin Gland Carcinoma' SubClassOf 'vulvar carcinoma' http://www.ebi.ac.uk/efo/EFO_1000101 Atypical Meningioma 'Atypical Meningioma' SubClassOf 'Meningioma' 'Atypical Meningioma' SubClassOf 'meningeal neoplasm' 'Atypical Meningioma' SubClassOf 'has_disease_location' some 'meninx' http://www.ebi.ac.uk/efo/EFO_1000102 B-Cell Prolymphocytic Leukemia 'B-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' 'B-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' http://www.ebi.ac.uk/efo/EFO_1000110 Benign Conjunctival Neoplasm 'Benign Conjunctival Neoplasm' SubClassOf 'genetic nervous system disorder' 'Benign Conjunctival Neoplasm' SubClassOf 'Conjunctival tumor' 'Benign Conjunctival Neoplasm' SubClassOf 'benign neoplasm of eye' 'Benign Conjunctival Neoplasm' SubClassOf 'benign neoplasm of eye' http://www.ebi.ac.uk/efo/EFO_1000116 Benign Ovarian Neoplasm 'Benign Ovarian Neoplasm' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Neoplasm' SubClassOf 'ovarian neoplasm' http://www.orpha.net/ORDO/Orphanet_309031 Pancreatic triacylglycerol lipase deficiency 'Pancreatic triacylglycerol lipase deficiency' SubClassOf 'Disorder of lipid absorption and transport' 'Pancreatic triacylglycerol lipase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000125 Bladder Adenocarcinoma 'Bladder Adenocarcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Bladder Adenocarcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000122 Benign Thyroid Gland Neoplasm 'Benign Thyroid Gland Neoplasm' SubClassOf 'benign endocrine neoplasm' 'Benign Thyroid Gland Neoplasm' SubClassOf 'thyroid neoplasm' 'Benign Thyroid Gland Neoplasm' SubClassOf 'benign endocrine neoplasm' 'Benign Thyroid Gland Neoplasm' SubClassOf 'thyroid neoplasm' http://www.ebi.ac.uk/efo/EFO_1000130 Bladder Squamous Cell Carcinoma 'Bladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Bladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_309015 Familial lipoprotein lipase deficiency 'Familial lipoprotein lipase deficiency' SubClassOf 'Hyperlipoproteinemia type 1' 'Familial lipoprotein lipase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000142 Brain Stem Glioma 'Brain Stem Glioma' SubClassOf 'brain glioma' 'Brain Stem Glioma' SubClassOf 'brain glioma' http://www.ebi.ac.uk/efo/EFO_1000151 Cavernous Hemangioma 'Cavernous Hemangioma' SubClassOf 'hemangioma' 'Cavernous Hemangioma' SubClassOf 'hemangioma' http://www.orpha.net/ORDO/Orphanet_309020 Familial apolipoprotein C-II deficiency 'Familial apolipoprotein C-II deficiency' SubClassOf 'Hyperlipoproteinemia type 1' 'Familial apolipoprotein C-II deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309025 Mevalonate kinase deficiency 'Mevalonate kinase deficiency' SubClassOf 'Sterol biosynthesis disorder' 'Mevalonate kinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000159 Cerebellar Liponeurocytoma 'Cerebellar Liponeurocytoma' SubClassOf 'cerebellar neoplasm' 'Cerebellar Liponeurocytoma' SubClassOf 'cerebellar neoplasm' http://www.orpha.net/ORDO/Orphanet_309028 Disorder of lipid absorption and transport 'Disorder of lipid absorption and transport' SubClassOf 'Genetic pancreatic disease' 'Disorder of lipid absorption and transport' SubClassOf 'Disorder of lipid metabolism' 'Disorder of lipid absorption and transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000162 Cervical Adenosquamous Carcinoma 'Cervical Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Cervical Adenosquamous Carcinoma' SubClassOf 'cervical adenocarcinoma' 'Cervical Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Cervical Adenosquamous Carcinoma' SubClassOf 'cervical adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_397606 Chronic diarrhea with hereditary sensory and autonomic neuropathy 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0000512 reproductive system disease 'reproductive system disease' SubClassOf 'disease of genitourinary system' 'reproductive system disease' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0000516 glaucoma 'glaucoma' SubClassOf 'eye disease' 'glaucoma' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_397612 Macrocephaly-developmental delay syndrome 'Macrocephaly-developmental delay syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Macrocephaly-developmental delay syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly-developmental delay syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_371024 Qualitative or quantitative defects of alpha-dystroglycan 'Qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of alpha-dystroglycan' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000172 cervical squamous cell carcinoma 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_309001 Disorder of carbohydrate absorption and transport 'Disorder of carbohydrate absorption and transport' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of carbohydrate absorption and transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397615 Obesity due to CEP19 deficiency 'Obesity due to CEP19 deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to CEP19 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000179 Chronic Neutrophilic Leukemia 'Chronic Neutrophilic Leukemia' SubClassOf 'chronic leukemia' 'Chronic Neutrophilic Leukemia' SubClassOf 'chronic leukemia' http://www.orpha.net/ORDO/Orphanet_371007 Congenital muscular dystrophy with hyperlaxity 'Congenital muscular dystrophy with hyperlaxity' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy with hyperlaxity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000176 Chordoid Meningioma 'Chordoid Meningioma' SubClassOf 'Meningioma' 'Chordoid Meningioma' SubClassOf 'meningeal neoplasm' 'Chordoid Meningioma' SubClassOf 'has_disease_location' some 'meninx' http://www.ebi.ac.uk/efo/EFO_1000174 Chondroid Chordoma 'Chondroid Chordoma' SubClassOf 'Chordoma' 'Chondroid Chordoma' SubClassOf 'Genetic bone tumor' http://www.ebi.ac.uk/efo/EFO_0000503 gastric adenocarcinoma 'gastric adenocarcinoma' SubClassOf 'adenocarcinoma' 'gastric adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder 'genetic disorder' SubClassOf 'disease' 'genetic disorder' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_309005 Disorder of lipid metabolism 'Disorder of lipid metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of lipid metabolism' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Disorder of lipid metabolism' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_251393 Localized junctional epidermolysis bullosa, non-Herlitz type 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa, non-Herlitz type' 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251365 Sickle cell - hemoglobin C disease 'Sickle cell - hemoglobin C disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - hemoglobin C disease' SubClassOf 'Rare constitutional anemia' http://www.ebi.ac.uk/efo/EFO_0000555 irritable bowel syndrome 'irritable bowel syndrome' SubClassOf 'intestinal disease' 'irritable bowel syndrome' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0000557 juvenile dermatomyositis 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' http://www.orpha.net/ORDO/Orphanet_251359 Sickle cell - beta-thalassemia disease 'Sickle cell - beta-thalassemia disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - beta-thalassemia disease' SubClassOf 'Rare constitutional anemia' http://www.orpha.net/ORDO/Orphanet_251375 Sickle cell - hemoglobin E disease 'Sickle cell - hemoglobin E disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - hemoglobin E disease' SubClassOf 'Rare constitutional anemia' http://www.orpha.net/ORDO/Orphanet_251370 Sickle cell - hemoglobin D disease 'Sickle cell - hemoglobin D disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - hemoglobin D disease' SubClassOf 'Rare constitutional anemia' http://purl.obolibrary.org/obo/HP_0004552 Scarring alopecia of scalp 'Scarring alopecia of scalp' SubClassOf 'Alopecia' 'Scarring alopecia of scalp' SubClassOf 'genetic skin disease' 'Scarring alopecia of scalp' SubClassOf 'Rare genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0000571 lung adenocarcinoma 'lung adenocarcinoma' SubClassOf 'adenocarcinoma' 'lung adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0011812 Duane-radial ray syndrome 'Duane-radial ray syndrome' SubClassOf 'dysostosis of genetic origin' 'Duane-radial ray syndrome' SubClassOf 'congenital limb malformation' 'Duane-radial ray syndrome' SubClassOf 'autosomal dominant disease' 'Duane-radial ray syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Duane-radial ray syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0011822 Bartter disease type 3 'Bartter disease type 3' SubClassOf 'Bartter syndrome' 'Bartter disease type 3' SubClassOf 'Bartter syndrome' http://www.ebi.ac.uk/efo/EFO_0000569 liposarcoma 'liposarcoma' SubClassOf 'lipomatous cancer' 'liposarcoma' SubClassOf 'lipomatous cancer' http://purl.obolibrary.org/obo/MONDO_0011831 arrhythmogenic right ventricular dysplasia 8 'arrhythmogenic right ventricular dysplasia 8' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 8' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://www.ebi.ac.uk/efo/EFO_0000584 infectious meningitis 'infectious meningitis' SubClassOf 'meningitis' 'infectious meningitis' SubClassOf 'has_disease_location' some 'meninx' 'infectious meningitis' SubClassOf 'encephalomyelitis' 'infectious meningitis' SubClassOf 'has_disease_location' only 'meninx' 'infectious meningitis' SubClassOf 'meningitis' 'infectious meningitis' SubClassOf 'central nervous system infection' http://purl.obolibrary.org/obo/MONDO_0011841 biotin-responsive basal ganglia disease 'biotin-responsive basal ganglia disease' SubClassOf 'basal ganglia disease' 'biotin-responsive basal ganglia disease' SubClassOf 'basal ganglia disease' http://purl.obolibrary.org/obo/UBERON_0002148 locus ceruleus 'locus ceruleus' SubClassOf 'anatomical entity' 'locus ceruleus' SubClassOf 'part_of' some 'nervous system' 'locus ceruleus' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0008207 chondromalacia patellae 'chondromalacia patellae' SubClassOf 'chondromalacia' 'chondromalacia patellae' SubClassOf 'chondromalacia' http://www.orpha.net/ORDO/Orphanet_289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011855 granular corneal dystrophy type II 'granular corneal dystrophy type II' SubClassOf 'stromal corneal dystrophy' 'granular corneal dystrophy type II' SubClassOf 'stromal corneal dystrophy' http://www.ebi.ac.uk/efo/EFO_0000499 follicular thyroid adenoma 'follicular thyroid adenoma' SubClassOf 'thyroid adenoma' 'follicular thyroid adenoma' SubClassOf 'Benign Thyroid Gland Neoplasm' 'follicular thyroid adenoma' SubClassOf 'thyroid adenoma' 'follicular thyroid adenoma' SubClassOf 'Benign Thyroid Gland Neoplasm' http://purl.obolibrary.org/obo/MONDO_0008218 Hailey-Hailey disease 'Hailey-Hailey disease' SubClassOf 'pemphigus' 'Hailey-Hailey disease' SubClassOf 'pemphigus' http://purl.obolibrary.org/obo/MONDO_0008217 pelvis-shoulder dysplasia 'pelvis-shoulder dysplasia' SubClassOf 'congenital limb malformation' 'pelvis-shoulder dysplasia' SubClassOf 'dysostosis of genetic origin' 'pelvis-shoulder dysplasia' SubClassOf 'non-syndromic limb reduction defect' 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 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0011876 juvenile absence epilepsy 'juvenile absence epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'juvenile absence epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis 'hypokalemic periodic paralysis' SubClassOf 'familial periodic paralysis' 'hypokalemic periodic paralysis' SubClassOf 'familial periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0011871 Niemann-Pick disease type B 'Niemann-Pick disease type B' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100464 http://purl.obolibrary.org/obo/MONDO_0021204 chronic otitis media 'chronic otitis media' SubClassOf 'Otitis media' 'chronic otitis media' SubClassOf 'Otitis media' http://purl.obolibrary.org/obo/MONDO_0021205 disorder of ear 'disorder of ear' SubClassOf 'otorhinolaryngologic disease' 'disorder of ear' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0021206 chronic non-suppurative otitis media 'chronic non-suppurative otitis media' SubClassOf 'non-suppurative otitis media' 'chronic non-suppurative otitis media' SubClassOf 'non-suppurative otitis media' http://purl.obolibrary.org/obo/MONDO_0021208 endocrine alopecia 'endocrine alopecia' SubClassOf 'alopecia' 'endocrine alopecia' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0008234 multiple endocrine neoplasia type 2A 'multiple endocrine neoplasia type 2A' SubClassOf 'multiple endocrine neoplasia type 2' 'multiple endocrine neoplasia type 2A' SubClassOf 'multiple endocrine neoplasia type 2' http://www.orpha.net/ORDO/Orphanet_238329 Severe X-linked mitochondrial encephalomyopathy 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'Neurometabolic disease' 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1460 Isolated CoQ-cytochrome C reductase deficiency 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'Disorder of energy metabolism' 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_251347 Ataxia-telangiectasia-like disorder 'Ataxia-telangiectasia-like disorder' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Ataxia-telangiectasia-like disorder' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'Ataxia-telangiectasia-like disorder' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Ataxia-telangiectasia-like disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008250 isolated growth hormone deficiency type II 'isolated growth hormone deficiency type II' SubClassOf 'isolated congenital growth hormone deficiency' 'isolated growth hormone deficiency type II' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0011890 Charcot-Marie-Tooth disease type 1D 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/MONDO_0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf 'leukodystrophy' 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf 'leukodystrophy' http://www.orpha.net/ORDO/Orphanet_1473 Uveal coloboma - cleft lip and palate - intellectual disability 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'Orofacial clefting syndrome' 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_251355 Sickle cell disease associated with an other hemoglobin anomaly 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'Sickle cell disease and related diseases' 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008259 familial spontaneous pneumothorax 'familial spontaneous pneumothorax' SubClassOf 'pneumothorax' 'familial spontaneous pneumothorax' SubClassOf 'pneumothorax' http://www.orpha.net/ORDO/Orphanet_1479 Atrial septal defect - atrioventricular conduction defects 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_1475 Renal coloboma syndrome 'Renal coloboma syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Renal coloboma syndrome' SubClassOf 'developmental defect of the eye' 'Renal coloboma syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal coloboma syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008262 Poland syndrome 'Poland syndrome' SubClassOf 'congenital limb malformation' 'Poland syndrome' SubClassOf 'dysostosis of genetic origin' 'Poland syndrome' SubClassOf 'syndromic disease' 'Poland syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Poland syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_35909 Combined deficiency of factor V and factor VIII 'Combined deficiency of factor V and factor VIII' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Combined deficiency of factor V and factor VIII' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1484 Contractures - ectodermal dysplasia - cleft lip/palate 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Ectodermal dysplasia syndrome' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Orofacial clefting syndrome' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Rare genetic skin disease' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_1485 Arthrogryposis - hyperkeratosis, lethal form 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_1480 Ventricular septal defect 'Ventricular septal defect' SubClassOf 'Genetic cardiac anomaly' 'Ventricular septal defect' SubClassOf 'heart disease' 'Ventricular septal defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008269 polydactyly of a biphalangeal thumb 'polydactyly of a biphalangeal thumb' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 'polydactyly of a biphalangeal thumb' SubClassOf 'non-syndromic synpolydactyly' http://purl.obolibrary.org/obo/MONDO_0008267 orofaciodigital syndrome V 'orofaciodigital syndrome V' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome V' SubClassOf 'orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_1486 Lethal congenital contracture syndrome type 1 'Lethal congenital contracture syndrome type 1' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 1' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Lethal congenital contracture syndrome type 1' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 1' SubClassOf 'Genetic respiratory or mediastinal malformation' 'Lethal congenital contracture syndrome type 1' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://purl.obolibrary.org/obo/MONDO_0008272 polysyndactyly 4 'polysyndactyly 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0008271 polydactyly of an index finger 'polydactyly of an index finger' SubClassOf 'non-syndromic synpolydactyly' 'polydactyly of an index finger' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0021249 lip neoplasm 'lip neoplasm' SubClassOf 'lip disorder' 'lip neoplasm' SubClassOf 'head and neck neoplasia' 'lip neoplasm' SubClassOf 'lip disorder' 'lip neoplasm' SubClassOf 'head and neck neoplasia' http://www.orpha.net/ORDO/Orphanet_1495 Intellectual disability - hypoplastic corpus callosum - preauricular tag 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1490 Corneal dystrophy - perceptive deafness 'Corneal dystrophy - perceptive deafness' SubClassOf 'Syndromic corneal dystrophy' 'Corneal dystrophy - perceptive deafness' SubClassOf 'corneal disease' 'Corneal dystrophy - perceptive deafness' SubClassOf 'Rare genetic eye disease' http://purl.obolibrary.org/obo/MONDO_0008277 stomach polyp 'stomach polyp' SubClassOf 'stomach disease' 'stomach polyp' SubClassOf 'stomach disease' http://purl.obolibrary.org/obo/MONDO_0008275 familial expansile osteolysis 'familial expansile osteolysis' SubClassOf 'genetic disorder' 'familial expansile osteolysis' SubClassOf 'primary osteolysis' 'familial expansile osteolysis' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0008274 polyostotic fibrous dysplasia 'polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' 'polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' http://purl.obolibrary.org/obo/MONDO_0008283 Cronkhite-Canada syndrome 'Cronkhite-Canada syndrome' SubClassOf 'intestinal polyposis syndrome' 'Cronkhite-Canada syndrome' SubClassOf 'intestinal polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'intestinal polyposis syndrome' 'Peutz-Jeghers syndrome' SubClassOf 'intestinal polyposis syndrome' http://www.orpha.net/ORDO/Orphanet_1427 Otospondylomegaepiphyseal dysplasia 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Type 11 collagen-related bone disorder' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Type 2 collagen-related bone disorder' 'Otospondylomegaepiphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000068 Acute Leukemia 'Acute Leukemia' SubClassOf 'leukemia' 'Acute Leukemia' SubClassOf 'leukemia' http://www.orpha.net/ORDO/Orphanet_1425 Desbuquois syndrome 'Desbuquois syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Desbuquois syndrome' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0008287 Greig cephalopolysyndactyly syndrome 'Greig cephalopolysyndactyly syndrome' SubClassOf 'syndromic disease' 'Greig cephalopolysyndactyly syndrome' SubClassOf 'genetic disorder' 'Greig cephalopolysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 'Greig cephalopolysyndactyly syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_1423 Lethal recessive chondrodysplasia 'Lethal recessive chondrodysplasia' SubClassOf 'Lethal chondrodysplasia' 'Lethal recessive chondrodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1420 Lethal chondrodysplasia, Moerman type 'Lethal chondrodysplasia, Moerman type' SubClassOf 'Lethal chondrodysplasia' 'Lethal chondrodysplasia, Moerman type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1421 Lethal chondrodysplasia, Seller type 'Lethal chondrodysplasia, Seller type' SubClassOf 'Lethal chondrodysplasia' 'Lethal chondrodysplasia, Seller type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008295 sporadic porphyria cutanea tarda 'sporadic porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' 'sporadic porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' http://purl.obolibrary.org/obo/MONDO_0008291 porokeratosis plantaris palmaris et disseminata 'porokeratosis plantaris palmaris et disseminata' SubClassOf 'porokeratosis' 'porokeratosis plantaris palmaris et disseminata' SubClassOf 'porokeratosis' http://www.orpha.net/ORDO/Orphanet_371047 Congenital disorder of glycosylation with neurological involvement 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'Neurometabolic disease' 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_371040 Primary qualitative or quantitative defects of alpha-dystroglycan 'Primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative defects of alpha-dystroglycan' 'Primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021251 endometrium neoplasm 'endometrium neoplasm' SubClassOf 'uterine neoplasm' 'endometrium neoplasm' SubClassOf 'uterine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000073 Adenosquamous Carcinoma 'Adenosquamous Carcinoma' SubClassOf 'squamous cell carcinoma' 'Adenosquamous Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000074 Adrenal Gland Myelolipoma 'Adrenal Gland Myelolipoma' SubClassOf 'benign neoplasm of adrenal gland' 'Adrenal Gland Myelolipoma' SubClassOf 'benign neoplasm of adrenal gland' http://purl.obolibrary.org/obo/MONDO_0021254 corpus uteri neoplasm 'corpus uteri neoplasm' SubClassOf 'uterine neoplasm' 'corpus uteri neoplasm' SubClassOf 'uterine neoplasm' http://www.orpha.net/ORDO/Orphanet_1437 Ring chromosome 1 'Ring chromosome 1' SubClassOf 'Ring chromosome' 'Ring chromosome 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1438 Ring chromosome 10 'Ring chromosome 10' SubClassOf 'Ring chromosome' 'Ring chromosome 10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000079 Ampulla of Vater Carcinoma 'Ampulla of Vater Carcinoma' SubClassOf 'carcinoma of duodenum' 'Ampulla of Vater Carcinoma' SubClassOf 'ampulla of vater cancer' 'Ampulla of Vater Carcinoma' SubClassOf 'carcinoma of duodenum' 'Ampulla of Vater Carcinoma' SubClassOf 'ampulla of vater cancer' http://www.orpha.net/ORDO/Orphanet_1436 Skeletal dysplasia - intellectual disability 'Skeletal dysplasia - intellectual disability' SubClassOf 'Syndromic anorectal malformation' 'Skeletal dysplasia - intellectual disability' SubClassOf 'Spondylodysplastic dysplasia' 'Skeletal dysplasia - intellectual disability' SubClassOf 'Primary bone dysplasia' 'Skeletal dysplasia - intellectual disability' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_1433 Choroidal atrophy - alopecia 'Choroidal atrophy - alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Choroidal atrophy - alopecia' SubClassOf 'Rare genetic skin disease' 'Choroidal atrophy - alopecia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://purl.obolibrary.org/obo/MONDO_0008297 variegate porphyria 'variegate porphyria' SubClassOf 'hepatic porphyria' 'variegate porphyria' SubClassOf 'hepatic porphyria' http://www.orpha.net/ORDO/Orphanet_1431 Paroxysmal dyskinesia 'Paroxysmal dyskinesia' SubClassOf 'Paroxysmal dystonia' 'Paroxysmal dyskinesia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1428 Familial chondromalacia patellae 'Familial chondromalacia patellae' SubClassOf 'Patellar dysostosis' 'Familial chondromalacia patellae' SubClassOf 'Rare genetic bone development disorder' 'Familial chondromalacia patellae' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_309108 Pancreatic colipase deficiency 'Pancreatic colipase deficiency' SubClassOf 'Disorder of lipid absorption and transport' 'Pancreatic colipase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1440 Ring chromosome 14 'Ring chromosome 14' SubClassOf 'Ring chromosome' 'Ring chromosome 14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1441 Ring chromosome 17 'Ring chromosome 17' SubClassOf 'Ring chromosome' 'Ring chromosome 17' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000082 Anaplastic (Malignant) Meningioma 'Anaplastic (Malignant) Meningioma' SubClassOf 'Meningioma' 'Anaplastic (Malignant) Meningioma' SubClassOf 'meningeal neoplasm' 'Anaplastic (Malignant) Meningioma' SubClassOf 'has_disease_location' some 'meninx' http://www.orpha.net/ORDO/Orphanet_35981 Polymicrogyria 'Polymicrogyria' SubClassOf 'Non-syndromic cerebral malformation due to abnormal neuronal migration' 'Polymicrogyria' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Polymicrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1448 Ring chromosome 6 'Ring chromosome 6' SubClassOf 'Ring chromosome' 'Ring chromosome 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1449 Ring chromosome 7 'Ring chromosome 7' SubClassOf 'Ring chromosome' 'Ring chromosome 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1446 Ring chromosome 22 'Ring chromosome 22' SubClassOf 'Ring chromosome' 'Ring chromosome 22' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1447 Ring chromosome 4 'Ring chromosome 4' SubClassOf 'Ring chromosome' 'Ring chromosome 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000088 Appendix Adenocarcinoma 'Appendix Adenocarcinoma' SubClassOf 'appendix carcinoma' 'Appendix Adenocarcinoma' SubClassOf 'appendix carcinoma' http://www.orpha.net/ORDO/Orphanet_1444 Ring chromosome 20 'Ring chromosome 20' SubClassOf 'Ring chromosome' 'Ring chromosome 20' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1445 Ring chromosome 21 'Ring chromosome 21' SubClassOf 'Ring chromosome' 'Ring chromosome 21' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000086 Angiomatous Meningioma 'Angiomatous Meningioma' SubClassOf 'Meningioma' 'Angiomatous Meningioma' SubClassOf 'meningeal neoplasm' 'Angiomatous Meningioma' SubClassOf 'has_disease_location' some 'meninx' http://www.orpha.net/ORDO/Orphanet_1442 Ring chromosome 18 'Ring chromosome 18' SubClassOf 'Ring chromosome' 'Ring chromosome 18' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1443 Ring chromosome 19 'Ring chromosome 19' SubClassOf 'Ring chromosome' 'Ring chromosome 19' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1439 Ring chromosome 12 'Ring chromosome 12' SubClassOf 'Ring chromosome' 'Ring chromosome 12' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1452 Cleidocranial dysplasia 'Cleidocranial dysplasia' SubClassOf 'Genetic cranial malformation' 'Cleidocranial dysplasia' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Cleidocranial dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021279 mucoepidermoid carcinoma of submandibular gland 'mucoepidermoid carcinoma of submandibular gland' SubClassOf 'submandibular gland cancer' 'mucoepidermoid carcinoma of submandibular gland' SubClassOf 'submandibular gland cancer' http://www.ebi.ac.uk/efo/EFO_1000090 Appendix Goblet Cell Carcinoid 'Appendix Goblet Cell Carcinoid' SubClassOf 'appendix carcinoma' 'Appendix Goblet Cell Carcinoid' SubClassOf 'combined carcinoid and adenocarcinoma' 'Appendix Goblet Cell Carcinoid' SubClassOf 'cecum carcinoma' http://www.ebi.ac.uk/efo/EFO_1000097 Atypical Carcinoid Tumor 'Atypical Carcinoid Tumor' SubClassOf 'carcinoid tumor' 'Atypical Carcinoid Tumor' SubClassOf 'carcinoid tumor' http://www.orpha.net/ORDO/Orphanet_1453 Cleidorhizomelic syndrome 'Cleidorhizomelic syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Cleidorhizomelic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'Familial dilated cardiomyopathy' 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'familial cardiomyopathy' 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'has_disease_location' some 'myocardium' 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'Rare genetic cardiac disease' http://www.orpha.net/ORDO/Orphanet_226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'Central congenital hypothyroidism' 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33364 Trichothiodystrophy 'Trichothiodystrophy' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichothiodystrophy' SubClassOf 'Syndromic hair shaft abnormality' 'Trichothiodystrophy' SubClassOf 'Male infertility due to sperm disorder' 'Trichothiodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397692 Hereditary isolated aplastic anemia 'Hereditary isolated aplastic anemia' SubClassOf 'Rare constitutional medullar aplasia' 'Hereditary isolated aplastic anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_226310 Peripheral hypothyroidism 'Peripheral hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Peripheral hypothyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_226316 Genetic transient congenital hypothyroidism 'Genetic transient congenital hypothyroidism' SubClassOf 'Congenital hypothyroidism' 'Genetic transient congenital hypothyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33355 Reticular dysgenesis 'Reticular dysgenesis' SubClassOf 'T-B- severe combined immunodeficiency' 'Reticular dysgenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1414 Cholestasis-lymphedema syndrome 'Cholestasis-lymphedema syndrome' SubClassOf 'Genetic parenchymatous liver disease' 'Cholestasis-lymphedema syndrome' SubClassOf 'Syndromic lymphedema' 'Cholestasis-lymphedema syndrome' SubClassOf 'Rare genetic hepatic disease' http://www.orpha.net/ORDO/Orphanet_1412 Tarsal-carpal coalition syndrome 'Tarsal-carpal coalition syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Tarsal-carpal coalition syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1410 Uncombable hair syndrome 'Uncombable hair syndrome' SubClassOf 'Isolated hair shaft abnormality' 'Uncombable hair syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1408 Hair defect - photosensitivity - intellectual disability 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'Syndromic hair shaft abnormality' 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1409 Woolly hair - hypotrichosis - everted lower lip - outstanding ears 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'Syndromic hair shaft abnormality' 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_86909 Myoclonic epilepsy of infancy 'Myoclonic epilepsy of infancy' SubClassOf 'Infantile epilepsy syndrome' 'Myoclonic epilepsy of infancy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86906 Hypothalamic hamartomas with gelastic seizures 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'Cerebral malformation with epilepsy' 'Hypothalamic hamartomas with gelastic seizures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98908 Neutral lipid storage myopathy 'Neutral lipid storage myopathy' SubClassOf 'Neutral lipid storage disease' 'Neutral lipid storage myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy 'Desminopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Desminopathy' SubClassOf 'Qualitative or quantitative defects of desmin' 'Desminopathy' SubClassOf 'Familial restrictive cardiomyopathy' 'Desminopathy' SubClassOf 'Inclusion myopathy' 'Desminopathy' SubClassOf 'Myofibrillar myopathy' 'Desminopathy' SubClassOf 'Genetic skeletal muscle disease' 'Desminopathy' SubClassOf 'has_disease_location' some 'myocardium' http://www.orpha.net/ORDO/Orphanet_59305 Gestational trophoblastic neoplasm 'Gestational trophoblastic neoplasm' SubClassOf 'reproductive system neoplasm' 'Gestational trophoblastic neoplasm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98902 Amish nemaline myopathy 'Amish nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of troponin' 'Amish nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Amish nemaline myopathy' SubClassOf 'Genetic skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0021092 fallopian tube neoplasm 'fallopian tube neoplasm' SubClassOf 'fallopian tube disease' 'fallopian tube neoplasm' SubClassOf 'fallopian tube disease' http://www.orpha.net/ORDO/Orphanet_98904 Congenital myopathy with excess of thin filaments 'Congenital myopathy with excess of thin filaments' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Congenital myopathy with excess of thin filaments' SubClassOf 'Congenital myopathy' 'Congenital myopathy with excess of thin filaments' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease 'immunodeficiency disease' SubClassOf 'immune system disease' 'immunodeficiency disease' SubClassOf 'immune system disease' http://www.orpha.net/ORDO/Orphanet_98905 Congenital multicore myopathy with external ophthalmoplegia 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'Multiminicore myopathy' 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0045050 nuclear cataract 'nuclear cataract' SubClassOf 'cataract' 'nuclear cataract' SubClassOf 'cataract' http://www.orpha.net/ORDO/Orphanet_98911 Distal myotilinopathy 'Distal myotilinopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myotilinopathy' SubClassOf 'Qualitative or quantitative defects of myotilin' 'Distal myotilinopathy' SubClassOf 'Myofibrillar myopathy' 'Distal myotilinopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_98910 Alpha-crystallinopathy 'Alpha-crystallinopathy' SubClassOf 'Qualitative or quantitative defects of alphaB-cristallin' 'Alpha-crystallinopathy' SubClassOf 'Myofibrillar myopathy' 'Alpha-crystallinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98912 Late-onset distal myopathy, Markesbery-Griggs type 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Myofibrillar myopathy' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Qualitative or quantitative defects of protein ZASP' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Autosomal dominant distal myopathy' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_155889 Coloboma of inferior eyelid 'Coloboma of inferior eyelid' SubClassOf 'Oblique facial cleft' 'Coloboma of inferior eyelid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_155884 Coloboma of superior eyelid 'Coloboma of superior eyelid' SubClassOf 'Oblique facial cleft' 'Coloboma of superior eyelid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_50944 Schöpf-Schulz-Passarge syndrome 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_50943 Keratolytic winter erythema 'Keratolytic winter erythema' SubClassOf 'Other genetic epidermal disease' 'Keratolytic winter erythema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_50945 Blomstrand lethal chondrodysplasia 'Blomstrand lethal chondrodysplasia' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Blomstrand lethal chondrodysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86920 Dermatopathia pigmentosa reticularis 'Dermatopathia pigmentosa reticularis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dermatopathia pigmentosa reticularis' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Dermatopathia pigmentosa reticularis' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermatopathia pigmentosa reticularis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86917 Lymphedema - cleft palate 'Lymphedema - cleft palate' SubClassOf 'Syndromic lymphedema' 'Lymphedema - cleft palate' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lymphedema - cleft palate' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_86915 Lymphedema - atrial septal defects - facial changes 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'Syndromic lymphedema' 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_86913 Myoclonic epilepsy in non-progressive encephalopathies 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'Infantile epilepsy syndrome' 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86914 Lymphedema - cerebral arteriovenous anomaly 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'Syndromic lymphedema' 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_248095 Primary hypertrophic osteoarthropathy 'Primary hypertrophic osteoarthropathy' SubClassOf 'Primary bone dysplasia with increased bone density' 'Primary hypertrophic osteoarthropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98976 Congenital glaucoma 'Congenital glaucoma' SubClassOf 'Primary glaucoma' 'Congenital glaucoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98981 Essential iris atrophy 'Essential iris atrophy' SubClassOf 'Iridocorneal endothelial syndrome' 'Essential iris atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96321 Polyploidy 'Polyploidy' SubClassOf 'Chromosomal anomaly' 'Polyploidy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98984 Pulverulent cataract 'Pulverulent cataract' SubClassOf 'early-onset non-syndromic cataract' 'Pulverulent cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96325 Isochromosome Y 'Isochromosome Y' SubClassOf 'Chromosome Y structural anomaly' 'Isochromosome Y' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98989 Cerulean cataract 'Cerulean cataract' SubClassOf 'Early-onset non-syndromic cataract' 'Cerulean cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98990 Coralliform cataract 'Coralliform cataract' SubClassOf 'early-onset non-syndromic cataract' 'Coralliform cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96333 Rare otorhinolaryngological malformation 'Rare otorhinolaryngological malformation' SubClassOf 'Genetic head and neck malformation' 'Rare otorhinolaryngological malformation' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_96334 Paternal uniparental disomy of chromosome 14 'Paternal uniparental disomy of chromosome 14' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'Paternal uniparental disomy of chromosome 14' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96346 Anorectal malformation 'Anorectal malformation' SubClassOf 'Genetic digestive tract malformation' 'Anorectal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0010250 polydactyly, postaxial, A9 'polydactyly, postaxial, A9' SubClassOf 'Postaxial polydactyly type A' 'polydactyly, postaxial, A9' SubClassOf 'Genetic congenital limb malformation' 'polydactyly, postaxial, A9' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_98942 Coloboma of choroid and retina 'Coloboma of choroid and retina' SubClassOf 'coloboma' 'Coloboma of choroid and retina' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98941 Von Hippel anomaly 'Von Hippel anomaly' SubClassOf 'Syndromic developmental defect of the eye' 'Von Hippel anomaly' SubClassOf 'Peters anomaly' 'Von Hippel anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009254 optic nerve glioblastoma 'optic nerve glioblastoma' SubClassOf 'optic nerve neoplasm' 'optic nerve glioblastoma' SubClassOf 'optic nerve neoplasm' http://www.ebi.ac.uk/efo/EFO_0009255 cecal neoplasm 'cecal neoplasm' SubClassOf 'cecal disorder' 'cecal neoplasm' SubClassOf 'cecal disorder' http://www.orpha.net/ORDO/Orphanet_98944 Coloboma of iris 'Coloboma of iris' SubClassOf 'coloboma' 'Coloboma of iris' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98943 Coloboma of eye lens 'Coloboma of eye lens' SubClassOf 'coloboma' 'Coloboma of eye lens' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98946 Coloboma of eyelid 'Coloboma of eyelid' SubClassOf 'Eyelid border anomaly' 'Coloboma of eyelid' SubClassOf 'coloboma' 'Coloboma of eyelid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98945 Coloboma of macula 'Coloboma of macula' SubClassOf 'inherited retinal dystrophy' 'Coloboma of macula' SubClassOf 'coloboma' 'Coloboma of macula' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98948 Congenital symblepharon 'Congenital symblepharon' SubClassOf 'Isolated cryptophthalmia' 'Congenital symblepharon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98949 Complete cryptophthalmia 'Complete cryptophthalmia' SubClassOf 'Isolated cryptophthalmia' 'Complete cryptophthalmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98951 Inverse Marcus-Gunn phenomenon 'Inverse Marcus-Gunn phenomenon' SubClassOf 'Marcus-Gunn syndrome' 'Inverse Marcus-Gunn phenomenon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98950 Partial cryptophthalmia 'Partial cryptophthalmia' SubClassOf 'Isolated cryptophthalmia' 'Partial cryptophthalmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0010248 spinocerebellar ataxia, autosomal recessive, 27 'spinocerebellar ataxia, autosomal recessive, 27' SubClassOf 'Autosomal recessive cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive, 27' SubClassOf 'Rare hereditary ataxia' 'spinocerebellar ataxia, autosomal recessive, 27' SubClassOf 'Early-onset ataxia with dementia' 'spinocerebellar ataxia, autosomal recessive, 27' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' http://www.ebi.ac.uk/efo/EFO_0010249 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3' SubClassOf 'Autosomal recessive cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3' SubClassOf 'Rare hereditary ataxia' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3' SubClassOf 'Early-onset ataxia with dementia' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' http://www.orpha.net/ORDO/Orphanet_98957 Gelatinous drop-like corneal dystrophy 'Gelatinous drop-like corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Gelatinous drop-like corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98956 Microcystic corneal dystrophy 'Microcystic corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Microcystic corneal dystrophy' SubClassOf 'Rare genetic eye disease' 'Microcystic corneal dystrophy' SubClassOf 'corneal disease' http://www.orpha.net/ORDO/Orphanet_98959 Subepithelial mucinous corneal dystrophy 'Subepithelial mucinous corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Subepithelial mucinous corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98958 Honey-droplet corneal dystrophy 'Honey-droplet corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Honey-droplet corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98962 Granular corneal dystrophy type I 'Granular corneal dystrophy type I' SubClassOf 'Stromal corneal dystrophy' 'Granular corneal dystrophy type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98961 Reis-Bücklers corneal dystrophy 'Reis-Bücklers corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Reis-Bücklers corneal dystrophy' SubClassOf 'corneal disease' 'Reis-Bücklers corneal dystrophy' SubClassOf 'Rare genetic eye disease' http://www.orpha.net/ORDO/Orphanet_98964 Lattice corneal dystrophy type I 'Lattice corneal dystrophy type I' SubClassOf 'Stromal corneal dystrophy' 'Lattice corneal dystrophy type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98963 Granular corneal dystrophy type II 'Granular corneal dystrophy type II' SubClassOf 'Stromal corneal dystrophy' 'Granular corneal dystrophy type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009296 mutyh-associated polyposis 'mutyh-associated polyposis' SubClassOf 'Genetic intestinal polyposis' 'mutyh-associated polyposis' SubClassOf 'Genetic intestinal disease' http://www.ebi.ac.uk/efo/EFO_0010267 autosomal dominant intermediate Charcot-Marie-Tooth disease type G 'autosomal dominant intermediate Charcot-Marie-Tooth disease type G' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'autosomal dominant intermediate Charcot-Marie-Tooth disease type G' SubClassOf 'Charcot-Marie-Tooth disease' 'autosomal dominant intermediate Charcot-Marie-Tooth disease type G' SubClassOf 'hereditary motor neuron disease' 'autosomal dominant intermediate Charcot-Marie-Tooth disease type G' SubClassOf 'has_disease_location' some 'motor neuron' 'autosomal dominant intermediate Charcot-Marie-Tooth disease type G' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0011725 Crigler-Najjar syndrome type 2 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' http://purl.obolibrary.org/obo/MONDO_0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_98969 Macular corneal dystrophy 'Macular corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Macular corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98971 Posterior amorphous corneal dystrophy 'Posterior amorphous corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Posterior amorphous corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98970 Fleck corneal dystrophy 'Fleck corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Fleck corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98973 Posterior polymorphous corneal dystrophy 'Posterior polymorphous corneal dystrophy' SubClassOf 'Secondary glaucoma due to a proliferation and differentiation anomaly' 'Posterior polymorphous corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' 'Posterior polymorphous corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98972 Central cloudy dystrophy of Francois 'Central cloudy dystrophy of Francois' SubClassOf 'Posterior corneal dystrophy' 'Central cloudy dystrophy of Francois' SubClassOf 'corneal disease' 'Central cloudy dystrophy of Francois' SubClassOf 'Rare genetic eye disease' http://www.orpha.net/ORDO/Orphanet_98975 Congenital hereditary endothelial dystrophy type I 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'Posterior corneal dystrophy' 'Congenital hereditary endothelial dystrophy type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy 'Fuchs endothelial corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' 'Fuchs endothelial corneal dystrophy' SubClassOf 'Rare genetic eye disease' 'Fuchs endothelial corneal dystrophy' SubClassOf 'corneal disease' http://www.ebi.ac.uk/efo/EFO_0009189 Hyperthyroidism 'Hyperthyroidism' SubClassOf 'thyroid disease' 'Hyperthyroidism' SubClassOf 'thyroid disease' http://purl.obolibrary.org/obo/MONDO_0011732 familial digital arthropathy-brachydactyly 'familial digital arthropathy-brachydactyly' SubClassOf 'TRPV4-related bone disorder' 'familial digital arthropathy-brachydactyly' SubClassOf 'TRPV4-related bone disorder' http://www.ebi.ac.uk/efo/EFO_0009191 Toxic Nodular Goiter 'Toxic Nodular Goiter' SubClassOf 'Hyperthyroidism' 'Toxic Nodular Goiter' SubClassOf 'Hyperthyroidism' http://purl.obolibrary.org/obo/MONDO_0011740 Carney-Stratakis syndrome 'Carney-Stratakis syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Carney-Stratakis syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0011758 Hurler syndrome 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0011759 Hurler-Scheie syndrome 'Hurler-Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' 'Hurler-Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 'Hurler-Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' http://www.orpha.net/ORDO/Orphanet_238670 Isolated thyrotropin-releasing hormone deficiency 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'Central congenital hypothyroidism' 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008116 oculopharyngeal muscular dystrophy 'oculopharyngeal muscular dystrophy' SubClassOf 'myopathy of extraocular muscle' 'oculopharyngeal muscular dystrophy' SubClassOf 'myopathy of extraocular muscle' http://purl.obolibrary.org/obo/MONDO_0008115 Feingold syndrome type 1 'Feingold syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800094 http://purl.obolibrary.org/obo/MONDO_0008111 oculodentodigital dysplasia 'oculodentodigital dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'oculodentodigital dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0011760 Scheie syndrome 'Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0011765 multiple epiphyseal dysplasia type 5 'multiple epiphyseal dysplasia type 5' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia type 5' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011778 multiple epiphyseal dysplasia, Al-Gazali type 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome 'ophthalmoplegia-intellectual disability-lingua scrotalis syndrome' SubClassOf 'syndromic intellectual disability' 'ophthalmoplegia-intellectual disability-lingua scrotalis syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011776 CINCA syndrome 'CINCA syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' 'CINCA syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800092 'CINCA syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia 'anauxetic dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021107 narcolepsy 'narcolepsy' SubClassOf 'sleep-wake disorder' 'narcolepsy' SubClassOf 'sleep-wake disorder' http://purl.obolibrary.org/obo/MONDO_0008139 OSLAM syndrome 'OSLAM syndrome' SubClassOf 'bone neoplasm' 'OSLAM syndrome' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0008137 orofaciodigital syndrome X 'orofaciodigital syndrome X' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome X' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0008134 autosomal dominant optic atrophy, classic form 'autosomal dominant optic atrophy, classic form' SubClassOf 'autosomal dominant optic atrophy' 'autosomal dominant optic atrophy, classic form' SubClassOf 'autosomal dominant optic atrophy' http://purl.obolibrary.org/obo/MONDO_0008133 optic atrophy 3 'optic atrophy 3' SubClassOf 'autosomal dominant optic atrophy' 'optic atrophy 3' SubClassOf 'autosomal dominant optic atrophy' http://purl.obolibrary.org/obo/MONDO_0060702 spondyloepimetaphyseal dysplasia, di rocco type 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0021121 hemangioendothelioma 'hemangioendothelioma' SubClassOf 'blood vessel neoplasm' 'hemangioendothelioma' SubClassOf 'blood vessel neoplasm' http://purl.obolibrary.org/obo/MONDO_0008148 osteogenesis imperfecta type 4 'osteogenesis imperfecta type 4' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://purl.obolibrary.org/obo/MONDO_0008147 osteogenesis imperfecta type 2 'osteogenesis imperfecta type 2' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://purl.obolibrary.org/obo/MONDO_0008146 osteogenesis imperfecta type 1 'osteogenesis imperfecta type 1' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://purl.obolibrary.org/obo/MONDO_0008145 Ollier disease 'Ollier disease' SubClassOf 'primary bone dysplasia' 'Ollier disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://purl.obolibrary.org/obo/MONDO_0008152 multicentric carpo-tarsal osteolysis with or without nephropathy 'multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'primary osteolysis' 'multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'genetic disorder' 'multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0008151 gnathodiaphyseal dysplasia 'gnathodiaphyseal dysplasia' SubClassOf 'primary bone dysplasia' 'gnathodiaphyseal dysplasia' SubClassOf 'genetic disorder' 'gnathodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://purl.obolibrary.org/obo/MONDO_0008150 osteoglophonic dwarfism 'osteoglophonic dwarfism' SubClassOf 'musculoskeletal system disease' 'osteoglophonic dwarfism' SubClassOf 'genetic disorder' 'osteoglophonic dwarfism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://purl.obolibrary.org/obo/MONDO_0008157 Buschke-Ollendorff syndrome 'Buschke-Ollendorff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0021118 intestinal neoplasm 'intestinal neoplasm' SubClassOf 'intestinal disease' 'intestinal neoplasm' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0021143 melanocytic neoplasm 'melanocytic neoplasm' SubClassOf 'neoplasm' 'melanocytic neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0008170 ovarian cancer 'ovarian cancer' SubClassOf 'Genital neoplasm, female' 'ovarian cancer' SubClassOf 'ovarian neoplasm' 'ovarian cancer' SubClassOf 'Genital neoplasm, female' 'ovarian cancer' SubClassOf 'ovarian neoplasm' http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder 'paroxysmal extreme pain disorder' SubClassOf 'neurological pain disorder' http://purl.obolibrary.org/obo/MONDO_0021164 posthitis 'posthitis' SubClassOf 'inflammatory disease' 'posthitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0008196 parastremmatic dwarfism 'parastremmatic dwarfism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008199 late-onset Parkinson disease 'late-onset Parkinson disease' SubClassOf 'Parkinson disease' 'late-onset Parkinson disease' SubClassOf 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0008198 parietal foramina with cleidocranial dysplasia 'parietal foramina with cleidocranial dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021187 hyperlipidemia 'hyperlipidemia' SubClassOf 'metabolic disease' 'hyperlipidemia' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_200037 Paroxysmal dystonia 'Paroxysmal dystonia' SubClassOf 'Rare paroxysmal movement disorder' 'Paroxysmal dystonia' SubClassOf 'Combined dystonia' 'Paroxysmal dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_141253 Oblique facial cleft 'Oblique facial cleft' SubClassOf 'Genetic head and neck malformation' 'Oblique facial cleft' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238650 Congenital primary megaureter, refluxing form 'Congenital primary megaureter, refluxing form' SubClassOf 'Congenital primary megaureter' 'Congenital primary megaureter, refluxing form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238654 Congenital primary megaureter, nonrefluxing and unobstructed form 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'Congenital primary megaureter' 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_141269 Lateral facial cleft 'Lateral facial cleft' SubClassOf 'Genetic head and neck malformation' 'Lateral facial cleft' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238666 Isolated congenital hypogonadotropic hypogonadism 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_155899 Mandibulofacial dysostosis 'Mandibulofacial dysostosis' SubClassOf 'Otomandibular dysplasia' 'Mandibulofacial dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_155896 Otomandibular dysplasia 'Otomandibular dysplasia' SubClassOf 'Rare otorhinolaryngological malformation' 'Otomandibular dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_141276 Commissural facial cleft 'Commissural facial cleft' SubClassOf 'Lateral facial cleft' 'Commissural facial cleft' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238642 Primary megaureter, adult-onset form 'Primary megaureter, adult-onset form' SubClassOf 'Congenital primary megaureter' 'Primary megaureter, adult-onset form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238646 Congenital primary megaureter, obstructed form 'Congenital primary megaureter, obstructed form' SubClassOf 'Congenital primary megaureter' 'Congenital primary megaureter, obstructed form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_50815 Branchiogenic deafness syndrome 'Branchiogenic deafness syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Branchiogenic deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Branchiogenic deafness syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_50811 Lipodystrophy - intellectual disability - deafness 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Genetic lipodystrophy' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Rare genetic endocrine disease' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Genetic subcutaneous tissue disorder' http://www.orpha.net/ORDO/Orphanet_50814 Craniolenticulosutural dysplasia 'Craniolenticulosutural dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Craniolenticulosutural dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Craniolenticulosutural dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_141127 Congenital tracheal stenosis 'Congenital tracheal stenosis' SubClassOf 'Tracheal anomaly' 'Congenital tracheal stenosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98805 Primary dystonia, DYT4 type 'Primary dystonia, DYT4 type' SubClassOf 'Focal, segmental or multifocal dystonia' 'Primary dystonia, DYT4 type' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_98807 Primary dystonia, DYT13 type 'Primary dystonia, DYT13 type' SubClassOf 'Focal, segmental or multifocal dystonia' 'Primary dystonia, DYT13 type' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_98806 Primary dystonia, DYT6 type 'Primary dystonia, DYT6 type' SubClassOf 'Generalized isolated dystonia' 'Primary dystonia, DYT6 type' SubClassOf 'Rare genetic dystonia' http://www.ebi.ac.uk/efo/EFO_0000701 skin disease 'skin disease' SubClassOf 'integumentary system disease' 'skin disease' SubClassOf 'integumentary system disease' http://www.ebi.ac.uk/efo/EFO_0000702 small cell lung carcinoma 'small cell lung carcinoma' SubClassOf 'small cell carcinoma' 'small cell lung carcinoma' SubClassOf 'small cell carcinoma' http://www.orpha.net/ORDO/Orphanet_141118 Nasal encephalocele 'Nasal encephalocele' SubClassOf 'Isolated encephalocele' 'Nasal encephalocele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma 'squamous cell lung carcinoma' SubClassOf 'lung carcinoma' 'squamous cell lung carcinoma' SubClassOf 'squamous cell carcinoma' 'squamous cell lung carcinoma' SubClassOf 'lung carcinoma' 'squamous cell lung carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0000731 uterine fibroid 'uterine fibroid' SubClassOf 'leiomyoma' 'uterine fibroid' SubClassOf 'leiomyoma' http://www.orpha.net/ORDO/Orphanet_86823 Lissencephaly with cerebellar hypoplasia 'Lissencephaly with cerebellar hypoplasia' SubClassOf 'Lissencephaly' 'Lissencephaly with cerebellar hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86821 Lissencephaly type 3 - familial fetal akinesia sequence 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'Lissencephaly type 3' 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_86822 Lissencephaly type 3 - metacarpal bone dysplasia 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'Lissencephaly type 3' 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_86820 Familial avascular necrosis of femoral head 'Familial avascular necrosis of femoral head' SubClassOf 'Avascular necrosis of genetic origin' 'Familial avascular necrosis of femoral head' SubClassOf 'Type 2 collagen-related bone disorder' 'Familial avascular necrosis of femoral head' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86818 Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Partial deletion of the long arm of chromosome X' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Chromosome X structural anomaly' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_86819 Atrichia with papular lesions 'Atrichia with papular lesions' SubClassOf 'Alopecia' 'Atrichia with papular lesions' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000729 ulcerative colitis 'ulcerative colitis' SubClassOf 'colitis' 'ulcerative colitis' SubClassOf 'colitis' http://www.orpha.net/ORDO/Orphanet_86812 Autosomal recessive limb-girdle muscular dystrophy type 2K 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86813 Helicoid peripapillary chorioretinal degeneration 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'Retinal dystrophy' 'Helicoid peripapillary chorioretinal degeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86816 Congenital analbuminemia 'Congenital analbuminemia' SubClassOf 'Rare genetic hematologic disease' 'Congenital analbuminemia' SubClassOf 'has_disease_location' some 'serum albumin' 'Congenital analbuminemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86817 Hemolytic anemia due to adenylate kinase deficiency 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86814 Benign adult familial myoclonic epilepsy 'Benign adult familial myoclonic epilepsy' SubClassOf 'primary myoclonus' 'Benign adult familial myoclonic epilepsy' SubClassOf 'genetic nervous system disorder' 'Benign adult familial myoclonic epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Benign adult familial myoclonic epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86815 Aplasia of lacrimal and salivary glands 'Aplasia of lacrimal and salivary glands' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Aplasia of lacrimal and salivary glands' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000753 microRNA profiling by array 'microRNA profiling by array' SubClassOf 'experimental process' 'microRNA profiling by array' SubClassOf 'assay by array' 'microRNA profiling by array' SubClassOf 'RNA assay' http://www.ebi.ac.uk/efo/EFO_0000756 melanoma 'melanoma' SubClassOf 'melanocytic neoplasm' 'melanoma' SubClassOf 'melanocytic neoplasm' http://www.ebi.ac.uk/efo/EFO_0000749 comparative genomic hybridization by array 'comparative genomic hybridization by array' SubClassOf 'assay by array' http://www.ebi.ac.uk/efo/EFO_0000770 malignant pleural mesothelioma 'malignant pleural mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'Malignant Pleural Neoplasm' 'malignant pleural mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'Malignant Pleural Neoplasm' http://www.orpha.net/ORDO/Orphanet_98855 Autosomal recessive Emery-Dreifuss muscular dystrophy 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000771 bacterial disease 'bacterial disease' SubClassOf 'infectious disease' 'bacterial disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0000775 Whipple's disease 'Whipple's disease' SubClassOf 'intestinal disease' 'Whipple's disease' SubClassOf 'bacterial disease' 'Whipple's disease' SubClassOf 'intestinal disease' 'Whipple's disease' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I 'Congenital dyserythropoietic anemia type I' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type I' SubClassOf 'Rare constitutional anemia' http://www.orpha.net/ORDO/Orphanet_98868 Southeast Asian ovalocytosis 'Southeast Asian ovalocytosis' SubClassOf 'Hereditary stomatocytosis' 'Southeast Asian ovalocytosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000763 viral disease 'viral disease' SubClassOf 'infectious disease' 'viral disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0000765 AIDS 'AIDS' SubClassOf 'HIV infection' 'AIDS' SubClassOf 'HIV infection' http://www.orpha.net/ORDO/Orphanet_98870 Congenital dyserythropoietic anemia type III 'Congenital dyserythropoietic anemia type III' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type III' SubClassOf 'Rare constitutional anemia' http://www.orpha.net/ORDO/Orphanet_98873 Congenital dyserythropoietic anemia type II 'Congenital dyserythropoietic anemia type II' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type II' SubClassOf 'Disorder of multiple glycosylation' 'Congenital dyserythropoietic anemia type II' SubClassOf 'inborn errors of metabolism' 'Congenital dyserythropoietic anemia type II' SubClassOf 'Rare constitutional anemia' 'Congenital dyserythropoietic anemia type II' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Congenital dyserythropoietic anemia type II' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) http://www.orpha.net/ORDO/Orphanet_98878 Hemophilia A 'Hemophilia A' SubClassOf 'Hemophilia' 'Hemophilia A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98879 Hemophilia B 'Hemophilia B' SubClassOf 'Hemophilia' 'Hemophilia B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98881 Familial dysfibrinogenemia 'Familial dysfibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' 'Familial dysfibrinogenemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98880 Familial afibrinogenemia 'Familial afibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' 'Familial afibrinogenemia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_98885 Bleeding diathesis due to glycoprotein VI deficiency 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'Bleeding diathesis due to a collagen receptor defect' 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'Rare hemorrhagic disorder due to a platelet receptor defect' http://www.ebi.ac.uk/efo/EFO_0009117 typhus 'typhus' SubClassOf 'rickettsiosis' http://www.orpha.net/ORDO/Orphanet_98889 Bilateral perisylvian polymicrogyria 'Bilateral perisylvian polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral perisylvian polymicrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000783 myositis 'myositis' SubClassOf 'inflammatory disease' 'myositis' SubClassOf 'myopathy' 'myositis' SubClassOf 'inflammatory disease' 'myositis' SubClassOf 'myopathy' http://www.orpha.net/ORDO/Orphanet_98892 Periventricular nodular heterotopia 'Periventricular nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' 'Periventricular nodular heterotopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98893 Congenital muscular dystrophy type 1B 'Congenital muscular dystrophy type 1B' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy type 1B' SubClassOf 'Genetic skeletal muscle disease' http://www.ebi.ac.uk/efo/EFO_0009147 partial adenosine deaminase deficiency 'partial adenosine deaminase deficiency' SubClassOf 'Severe combined immunodeficiency' 'partial adenosine deaminase deficiency' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_3366 Isolated trigonocephaly 'Isolated trigonocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated trigonocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated trigonocephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3365 Trigonocephaly - broad thumbs 'Trigonocephaly - broad thumbs' SubClassOf 'Syndromic craniosynostosis' 'Trigonocephaly - broad thumbs' SubClassOf 'Genetic cranial malformation' 'Trigonocephaly - broad thumbs' SubClassOf 'Rare genetic bone disease' 'Trigonocephaly - broad thumbs' SubClassOf 'Rare genetic bone development disorder' http://www.ebi.ac.uk/efo/EFO_0009149 muscular dystrophy, congenital, with cataracts and intellectual disability 'muscular dystrophy, congenital, with cataracts and intellectual disability' SubClassOf 'Congenital muscular dystrophy with intellectual disability' 'muscular dystrophy, congenital, with cataracts and intellectual disability' SubClassOf 'inborn errors of metabolism' 'muscular dystrophy, congenital, with cataracts and intellectual disability' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'muscular dystrophy, congenital, with cataracts and intellectual disability' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'muscular dystrophy, congenital, with cataracts and intellectual disability' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'muscular dystrophy, congenital, with cataracts and intellectual disability' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_3363 Trichomegaly - retina pigmentary degeneration - dwarfism 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'Rare genetic skin disease' 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_3362 Trichomegaly - cataract - hereditary spherocytosis 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'Rare genetic skin disease' 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_3361 Trichodysplasia - xeroderma 'Trichodysplasia - xeroderma' SubClassOf 'Syndromic hair shaft abnormality' 'Trichodysplasia - xeroderma' SubClassOf 'Rare genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0009145 limb-girdle muscular dystrophy-dystroglycanopathy, type c1 'limb-girdle muscular dystrophy-dystroglycanopathy, type c1' SubClassOf 'Limb-girdle muscular dystrophy' 'limb-girdle muscular dystrophy-dystroglycanopathy, type c1' SubClassOf 'Genetic skeletal muscle disease' http://www.ebi.ac.uk/efo/EFO_0009146 pik3ca related overgrowth spectrum 'pik3ca related overgrowth spectrum' SubClassOf 'Overgrowth syndrome' 'pik3ca related overgrowth spectrum' SubClassOf 'Genetic overgrowth/obesity syndrome' http://www.orpha.net/ORDO/Orphanet_98811 Paroxysmal exertion-induced dyskinesia 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'Paroxysmal dyskinesia' 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'Rare genetic dystonia' 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'Rare paroxysmal movement disorder' http://www.orpha.net/ORDO/Orphanet_98816 Benign childhood occipital epilepsy, Gastaut type 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf 'Benign occipital epilepsy' 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3369 Trigonocephaly - short stature - developmental delay 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Syndromic craniosynostosis' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Rare genetic bone disease' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Genetic cranial malformation' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Rare genetic bone development disorder' http://www.orpha.net/ORDO/Orphanet_98815 Benign childhood occipital epilepsy, Panayiotopoulos type 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'Benign occipital epilepsy' 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3368 Trigonocephaly - bifid nose - acral anomalies 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_98820 Familial focal epilepsy with variable foci 'Familial focal epilepsy with variable foci' SubClassOf 'Familial partial epilepsy' 'Familial focal epilepsy with variable foci' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009150 cholestasis, intrahepatic, of pregnancy 3 'cholestasis, intrahepatic, of pregnancy 3' SubClassOf 'Familial intrahepatic cholestasis' 'cholestasis, intrahepatic, of pregnancy 3' SubClassOf 'Rare metabolic liver disease' 'cholestasis, intrahepatic, of pregnancy 3' SubClassOf 'genetic biliary tract disease' http://www.ebi.ac.uk/efo/EFO_0009152 intellectual disability, autosomal dominant 52 'intellectual disability, autosomal dominant 52' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 52' SubClassOf 'Rare intellectual disability without developmental anomaly' http://www.ebi.ac.uk/efo/EFO_0009153 lymphedema, hereditary, iii 'lymphedema, hereditary, iii' SubClassOf 'Lymphedema' 'lymphedema, hereditary, iii' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_3377 Trismus - pseudocamptodactyly 'Trismus - pseudocamptodactyly' SubClassOf 'Distal arthrogryposis' 'Trismus - pseudocamptodactyly' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_3376 Triploidy 'Triploidy' SubClassOf 'Syndromic obesity' 'Triploidy' SubClassOf 'Polyploidy' 'Triploidy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009138 laminin alpha 2-related dystrophy 'laminin alpha 2-related dystrophy' SubClassOf 'Congenital muscular dystrophy' 'laminin alpha 2-related dystrophy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_3375 Trisomy X 'Trisomy X' SubClassOf 'Polysomy of X chromosome' 'Trisomy X' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Trisomy X' SubClassOf 'Non-acquired premature ovarian failure' 'Trisomy X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009139 glut1 deficiency syndrome 1, autosomal recessive 'glut1 deficiency syndrome 1, autosomal recessive' SubClassOf 'Neurometabolic disease' 'glut1 deficiency syndrome 1, autosomal recessive' SubClassOf 'Glucose transport disorder' 'glut1 deficiency syndrome 1, autosomal recessive' SubClassOf 'Disorder of carbohydrate metabolism' 'glut1 deficiency syndrome 1, autosomal recessive' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_3379 Distal trisomy 17q 'Distal trisomy 17q' SubClassOf 'Partial duplication of the long arm of chromosome 17' 'Distal trisomy 17q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3378 Trisomy 13 'Trisomy 13' SubClassOf 'Total autosomal trisomy' 'Trisomy 13' SubClassOf 'Syndrome with a symptomatic strabismus' 'Trisomy 13' SubClassOf 'Congenital vitreoretinal dysplasia' 'Trisomy 13' SubClassOf 'Syndromic anorectal malformation' 'Trisomy 13' SubClassOf 'Syndromic renal or urinary tract malformation' 'Trisomy 13' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009141 fgfr2 related craniosynostosis 'fgfr2 related craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'fgfr2 related craniosynostosis' SubClassOf 'Rare genetic bone development disorder' 'fgfr2 related craniosynostosis' SubClassOf 'Genetic cranial malformation' 'fgfr2 related craniosynostosis' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_3388 Neural tube defect 'Neural tube defect' SubClassOf 'Genetic non-syndromic central nervous system malformation' 'Neural tube defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3387 Isolated anterior cervical hypertrichosis 'Isolated anterior cervical hypertrichosis' SubClassOf 'Hypertrichosis' 'Isolated anterior cervical hypertrichosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009165 intellectual disability, autosomal dominant 53 'intellectual disability, autosomal dominant 53' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 53' SubClassOf 'Rare intellectual disability without developmental anomaly' http://www.orpha.net/ORDO/Orphanet_3383 Humerus trochlea aplasia 'Humerus trochlea aplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Humerus trochlea aplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3389 Tuberculosis 'Tuberculosis' SubClassOf 'bacterial disease' 'Tuberculosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3380 Trisomy 18 'Trisomy 18' SubClassOf 'Total autosomal trisomy' 'Trisomy 18' SubClassOf 'Syndromic anorectal malformation' 'Trisomy 18' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Trisomy 18' SubClassOf 'Eyebrow hypertrophy' 'Trisomy 18' SubClassOf 'Syndromic renal or urinary tract malformation' 'Trisomy 18' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009154 hemophilia b leyden 'hemophilia b leyden' SubClassOf 'Hemophilia B' 'hemophilia b leyden' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.ebi.ac.uk/efo/EFO_0009156 intellectual disability, autosomal dominant 48 'intellectual disability, autosomal dominant 48' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 48' SubClassOf 'Rare intellectual disability without developmental anomaly' http://purl.obolibrary.org/obo/MONDO_0011604 spondylo-ocular syndrome 'spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://purl.obolibrary.org/obo/MONDO_0011605 generalized basaloid follicular hamartoma syndrome 'generalized basaloid follicular hamartoma syndrome' SubClassOf 'inherited skin tumor' 'generalized basaloid follicular hamartoma syndrome' SubClassOf 'inherited skin tumor' http://www.orpha.net/ORDO/Orphanet_98853 Autosomal dominant Emery-Dreifuss muscular dystrophy 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3390 Proximal tubulopathy - diabetes mellitus - cerebellar ataxia 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'Rare genetic renal disease' http://www.ebi.ac.uk/efo/EFO_0009164 intellectual disability, autosomal dominant 54 'intellectual disability, autosomal dominant 54' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 54' SubClassOf 'Rare intellectual disability without developmental anomaly' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf 'Primary ciliary dyskinesia' 'stromme syndrome' SubClassOf 'Rare genetic respiratory disease' 'stromme syndrome' SubClassOf 'Male infertility due to sperm motility disorder' 'stromme syndrome' SubClassOf 'has_disease_location' some 'cilium' http://www.orpha.net/ORDO/Orphanet_238578 Familial clubfoot due to 17q23.1q23.2 microduplication 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'Partial duplication of the long arm of chromosome 17' 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263534 Acral peeling skin syndrome 'Acral peeling skin syndrome' SubClassOf 'Peeling skin syndrome' 'Acral peeling skin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0023603 hereditary disorder of connective tissue 'hereditary disorder of connective tissue' SubClassOf 'genetic disorder' 'hereditary disorder of connective tissue' SubClassOf 'connective tissue disease' 'hereditary disorder of connective tissue' SubClassOf 'genetic disorder' 'hereditary disorder of connective tissue' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_0009074 methylmalonic aciduria cblb type 'methylmalonic aciduria cblb type' SubClassOf 'Classic organic aciduria' 'methylmalonic aciduria cblb type' SubClassOf 'Organic aciduria' http://www.ebi.ac.uk/efo/EFO_0009075 neuropathy, hereditary motor and sensory, type vib 'neuropathy, hereditary motor and sensory, type vib' SubClassOf 'Hereditary motor and sensory neuropathy type 6' 'neuropathy, hereditary motor and sensory, type vib' SubClassOf 'hereditary motor neuron disease' 'neuropathy, hereditary motor and sensory, type vib' SubClassOf 'has_disease_location' some 'motor neuron' 'neuropathy, hereditary motor and sensory, type vib' SubClassOf 'Rare genetic neurological disorder' 'neuropathy, hereditary motor and sensory, type vib' SubClassOf 'Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_3454 Intellectual disability-developmental delay-contractures syndrome 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 'Autoimmune polyendocrinopathy type 1' SubClassOf 'Genetic hypoparathyroidism' 'Autoimmune polyendocrinopathy type 1' SubClassOf 'genetic hypoparathyroidism' 'Autoimmune polyendocrinopathy type 1' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' http://www.orpha.net/ORDO/Orphanet_263516 Progressive myoclonic epilepsy type 3 'Progressive myoclonic epilepsy type 3' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Progressive myoclonic epilepsy type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238583 Hyperphenylalaninemia 'Hyperphenylalaninemia' SubClassOf 'Disorder of pterin metabolism' 'Hyperphenylalaninemia' SubClassOf 'Neurometabolic disease' 'Hyperphenylalaninemia' SubClassOf 'Rare genetic neurological disorder' 'Hyperphenylalaninemia' SubClassOf 'Disorder of neurotransmitter metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0011621 acropectoral syndrome 'acropectoral syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0011620 metaphyseal dysplasia, Braun-Tinschert type 'metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'genetic disorder' 'metaphyseal dysplasia, Braun-Tinschert type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://www.ebi.ac.uk/efo/EFO_0009062 Temple-Baraitser syndrome 'Temple-Baraitser syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Temple-Baraitser syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_0009064 X-linked erythropoietic protoporphyria 'X-linked erythropoietic protoporphyria' SubClassOf 'Porphyria' 'X-linked erythropoietic protoporphyria' SubClassOf 'Genetic photodermatosis' 'X-linked erythropoietic protoporphyria' SubClassOf 'Metabolic disease with skin involvement' 'X-linked erythropoietic protoporphyria' SubClassOf 'Rare genetic renal disease' 'X-linked erythropoietic protoporphyria' SubClassOf 'Disorder of porphyrin and haem metabolism' http://www.ebi.ac.uk/efo/EFO_0009061 TELO2-related intellectual disability-neurodevelopmental disorder 'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_3460 Torg-Winchester syndrome 'Torg-Winchester syndrome' SubClassOf 'Multicentric osteolysis-nodulosis-arthropathy spectrum' 'Torg-Winchester syndrome' SubClassOf 'Primary bone dysplasia' 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 'Functional neutrophil defect' 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'Disorder of zinc metabolism' 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'inborn errors of metabolism' 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_3467 Hereditary xanthinuria 'Hereditary xanthinuria' SubClassOf 'Disorder of purine metabolism' 'Hereditary xanthinuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hereditary xanthinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_84271 Sporadic idiopathic steroid-resistant nephrotic syndrome 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'Primary glomerular disease' 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011633 Charcot-Marie-Tooth disease axonal type 2C 'Charcot-Marie-Tooth disease axonal type 2C' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease axonal type 2C' SubClassOf 'motor peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0011631 hemochromatosis type 4 'hemochromatosis type 4' SubClassOf 'hereditary hemochromatosis' 'hemochromatosis type 4' SubClassOf 'hereditary hemochromatosis' http://www.orpha.net/ORDO/Orphanet_238557 Chuvash erythrocytosis 'Chuvash erythrocytosis' SubClassOf 'Congenital secondary polycythemia' 'Chuvash erythrocytosis' SubClassOf 'Genetic polycythemia' 'Chuvash erythrocytosis' SubClassOf 'has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system')) http://www.orpha.net/ORDO/Orphanet_251515 Distal arthrogryposis type 10 'Distal arthrogryposis type 10' SubClassOf 'Distal arthrogryposis' 'Distal arthrogryposis type 10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0010066 corneal hysteresis 'corneal hysteresis' SubClassOf 'is_about' some 'Keratoconus' http://www.ebi.ac.uk/efo/EFO_0010067 corneal resistance factor 'corneal resistance factor' SubClassOf 'is_about' some 'Keratoconus' http://www.ebi.ac.uk/efo/EFO_0009079 white-sutton syndrome 'white-sutton syndrome' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'white-sutton syndrome' SubClassOf 'Rare intellectual disability without developmental anomaly' http://purl.obolibrary.org/obo/MONDO_0011640 genitopatellar syndrome 'genitopatellar syndrome' SubClassOf 'syndromic intellectual disability' 'genitopatellar syndrome' SubClassOf 'patellar dysostosis' 'genitopatellar syndrome' SubClassOf 'syndromic intellectual disability' 'genitopatellar syndrome' SubClassOf 'patellar dysostosis' http://purl.obolibrary.org/obo/MONDO_0008005 cardiospondylocarpofacial syndrome 'cardiospondylocarpofacial syndrome' SubClassOf 'filamin-related bone disorder' http://www.orpha.net/ORDO/Orphanet_3406 Ulerythema ophryogenesis 'Ulerythema ophryogenesis' SubClassOf 'Keratosis pilaris atrophicans' 'Ulerythema ophryogenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3405 Umbilical cord ulceration - intestinal atresia 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'Syndromic intestinal malformation' 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_3402 Transient tyrosinemia of the newborn 'Transient tyrosinemia of the newborn' SubClassOf 'Disorder of tyrosine metabolism' 'Transient tyrosinemia of the newborn' SubClassOf 'perinatal disease' 'Transient tyrosinemia of the newborn' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263558 Generalized peeling skin syndrome type C 'Generalized peeling skin syndrome type C' SubClassOf 'Generalized peeling skin syndrome' 'Generalized peeling skin syndrome type C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3417 Van den Bosch syndrome 'Van den Bosch syndrome' SubClassOf 'Genetic acrokeratoderma' 'Van den Bosch syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Van den Bosch syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011667 maturity-onset diabetes of the young type 4 'maturity-onset diabetes of the young type 4' SubClassOf 'maturity-onset diabetes of the young' 'maturity-onset diabetes of the young type 4' SubClassOf 'maturity-onset diabetes of the young' http://www.orpha.net/ORDO/Orphanet_3416 Hyperostosis corticalis generalisata 'Hyperostosis corticalis generalisata' SubClassOf 'Primary bone dysplasia with increased bone density' 'Hyperostosis corticalis generalisata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011668 maturity-onset diabetes of the young type 6 'maturity-onset diabetes of the young type 6' SubClassOf 'maturity-onset diabetes of the young' 'maturity-onset diabetes of the young type 6' SubClassOf 'maturity-onset diabetes of the young' http://www.orpha.net/ORDO/Orphanet_3411 Double uterus - hemivagina - renal agenesis 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Syndromic urogenital tract malformation' 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Syndromic renal or urinary tract malformation' 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Genetic urogenital tract malformation' 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Genetic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0011663 juvenile primary lateral sclerosis 'juvenile primary lateral sclerosis' SubClassOf 'lateral sclerosis' 'juvenile primary lateral sclerosis' SubClassOf 'lateral sclerosis' http://www.orpha.net/ORDO/Orphanet_3409 Urban-Rogers-Meyer syndrome 'Urban-Rogers-Meyer syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Urban-Rogers-Meyer syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Urban-Rogers-Meyer syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263548 Peeling skin syndrome type A 'Peeling skin syndrome type A' SubClassOf 'Generalized peeling skin syndrome' 'Peeling skin syndrome type A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_275534 Myostatin-related muscle hypertrophy 'Myostatin-related muscle hypertrophy' SubClassOf 'genetic disorder' 'Myostatin-related muscle hypertrophy' SubClassOf 'has_disease_location' some 'skeletal muscle organ' 'Myostatin-related muscle hypertrophy' SubClassOf 'muscular disease' 'Myostatin-related muscle hypertrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3426 Double outlet right ventricle 'Double outlet right ventricle' SubClassOf 'Genetic cardiac anomaly' 'Double outlet right ventricle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3424 Velo-facial-skeletal syndrome 'Velo-facial-skeletal syndrome' SubClassOf 'Orofacial clefting syndrome' 'Velo-facial-skeletal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Velo-facial-skeletal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3439 Von Voss-Cherstvoy syndrome 'Von Voss-Cherstvoy syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Von Voss-Cherstvoy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3433 Microcephaly - brachydactyly - kyphoscoliosis 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011683 oculocutaneous albinism type 4 'oculocutaneous albinism type 4' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 4' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0011681 episodic ataxia type 4 'episodic ataxia type 4' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 4' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0011682 episodic ataxia type 3 'episodic ataxia type 3' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 3' SubClassOf 'hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_263543 Generalized peeling skin syndrome 'Generalized peeling skin syndrome' SubClassOf 'Peeling skin syndrome' 'Generalized peeling skin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'Lymphoproliferative syndrome' 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'Inherited cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0011686 DNA ligase IV deficiency 'DNA ligase IV deficiency' SubClassOf 'syndromic disease' 'DNA ligase IV deficiency' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0021020 Crigler-Najjar syndrome type 1 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' http://purl.obolibrary.org/obo/MONDO_0021023 complete androgen insensitivity syndrome 'complete androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' 'complete androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0008048 autosomal dominant centronuclear myopathy 'autosomal dominant centronuclear myopathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant centronuclear myopathy' SubClassOf 'centronuclear myopathy' 'autosomal dominant centronuclear myopathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant centronuclear myopathy' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 'episodic ataxia type 1' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 1' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0008059 Naegeli-Franceschetti-Jadassohn syndrome 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'hyperpigmentation of the skin' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0008061 nail-patella syndrome 'nail-patella syndrome' SubClassOf 'patellar dysostosis' 'nail-patella syndrome' SubClassOf 'patellar dysostosis' http://purl.obolibrary.org/obo/MONDO_0021019 X-linked recessive ocular albinism 'X-linked recessive ocular albinism' SubClassOf 'ocular albinism' 'X-linked recessive ocular albinism' SubClassOf 'ocular albinism' http://www.orpha.net/ORDO/Orphanet_238505 Autosomal recessive lymphoproliferative disease 'Autosomal recessive lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' 'Autosomal recessive lymphoproliferative disease' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'Autosomal recessive lymphoproliferative disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309796 Rhizomelic chondrodysplasia punctata type 2 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021049 vulvar neoplasm 'vulvar neoplasm' SubClassOf 'vulvar disease' 'vulvar neoplasm' SubClassOf 'vulvar disease' http://purl.obolibrary.org/obo/MONDO_0021041 pleural solitary fibrous tumor 'pleural solitary fibrous tumor' SubClassOf 'pleural neoplasm' 'pleural solitary fibrous tumor' SubClassOf 'pleural neoplasm' http://www.orpha.net/ORDO/Orphanet_307141 Diffuse palmoplantar keratoderma 'Diffuse palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' 'Diffuse palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021036 keratosis pilaris 'keratosis pilaris' SubClassOf 'skin disease' 'keratosis pilaris' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0008082 multiple endocrine neoplasia type 2B 'multiple endocrine neoplasia type 2B' SubClassOf 'autosomal dominant disease' 'multiple endocrine neoplasia type 2B' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_307148 Isolated diffuse palmoplantar keratoderma 'Isolated diffuse palmoplantar keratoderma' SubClassOf 'Diffuse palmoplantar keratoderma' 'Isolated diffuse palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021065 pleural neoplasm 'pleural neoplasm' SubClassOf 'pleural disorder' 'pleural neoplasm' SubClassOf 'pleural disorder' http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm 'urinary system neoplasm' SubClassOf 'neoplasm' 'urinary system neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_141136 Hemifacial microsomia 'Hemifacial microsomia' SubClassOf 'Oculo-auriculo-vertebral spectrum' 'Hemifacial microsomia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021063 malignant colon neoplasm 'malignant colon neoplasm' SubClassOf 'colorectal cancer' 'malignant colon neoplasm' SubClassOf 'colorectal cancer' http://www.orpha.net/ORDO/Orphanet_141132 Oculo-auriculo-vertebral spectrum 'Oculo-auriculo-vertebral spectrum' SubClassOf 'Otomandibular dysplasia' 'Oculo-auriculo-vertebral spectrum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008097 linear nevus sebaceous syndrome 'linear nevus sebaceous syndrome' SubClassOf 'inherited skin tumor' 'linear nevus sebaceous syndrome' SubClassOf 'genetic nervous system disorder' 'linear nevus sebaceous syndrome' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0008094 familial multiple nevi flammei 'familial multiple nevi flammei' SubClassOf 'capillary malformation' 'familial multiple nevi flammei' SubClassOf 'skin vascular disease' 'familial multiple nevi flammei' SubClassOf 'capillary malformation' 'familial multiple nevi flammei' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0008092 hereditary neutrophilia 'hereditary neutrophilia' SubClassOf 'leukocyte disorder' 'hereditary neutrophilia' SubClassOf 'leukocyte disorder' http://www.orpha.net/ORDO/Orphanet_167759 Hereditary dentin defect 'Hereditary dentin defect' SubClassOf 'Rare odontal or periodontal disorder' 'Hereditary dentin defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238536 Congenital secondary polycythemia 'Congenital secondary polycythemia' SubClassOf 'Secondary polycythemia' 'Congenital secondary polycythemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309778 Defect in V-ATPase 'Defect in V-ATPase' SubClassOf 'Disorder of multiple glycosylation' 'Defect in V-ATPase' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_25968 Benign occipital epilepsy 'Benign occipital epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Benign occipital epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021054 bone sarcoma 'bone sarcoma' SubClassOf 'Malignant Bone Neoplasm' 'bone sarcoma' SubClassOf 'sarcoma' 'bone sarcoma' SubClassOf 'Malignant Bone Neoplasm' 'bone sarcoma' SubClassOf 'sarcoma' http://purl.obolibrary.org/obo/MONDO_0045046 inherited thyroid metabolism disease 'inherited thyroid metabolism disease' SubClassOf 'thyroid disease' 'inherited thyroid metabolism disease' SubClassOf 'thyroid disease' http://www.orpha.net/ORDO/Orphanet_141145 Hemifacial hypertrophy 'Hemifacial hypertrophy' SubClassOf 'Macroglossia' 'Hemifacial hypertrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008098 mesomelic dwarfism, Nievergelt type 'mesomelic dwarfism, Nievergelt type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'mesomelic dwarfism, Nievergelt type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_309789 Rhizomelic chondrodysplasia punctata type 1 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_177107 Syndromic hypothyroidism 'Syndromic hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Syndromic hypothyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021086 gingival neoplasm 'gingival neoplasm' SubClassOf 'gingival disease' 'gingival neoplasm' SubClassOf 'gingival disease' http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease 'glycoprotein metabolism disease' SubClassOf 'inborn errors of metabolism' 'glycoprotein metabolism disease' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_141152 Isolated congenital hypoglossia/aglossia 'Isolated congenital hypoglossia/aglossia' SubClassOf 'Hypoglossia/aglossia' 'Isolated congenital hypoglossia/aglossia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021089 peripheral nervous system cancer 'peripheral nervous system cancer' SubClassOf 'tumour of cranial and spinal nerves' 'peripheral nervous system cancer' SubClassOf 'nervous system cancer' 'peripheral nervous system cancer' SubClassOf 'tumour of cranial and spinal nerves' 'peripheral nervous system cancer' SubClassOf 'nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease 'cholesterol biosynthetic process disease' SubClassOf 'cholesterol metabolism disease' 'cholesterol biosynthetic process disease' SubClassOf 'cholesterol metabolism disease' http://purl.obolibrary.org/obo/MONDO_0045018 creatine biosynthetic process disease 'creatine biosynthetic process disease' SubClassOf 'amino acid metabolism disease' 'creatine biosynthetic process disease' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease 'carbohydrate transport disease' SubClassOf 'carbohydrate metabolism disease' 'carbohydrate transport disease' SubClassOf 'carbohydrate metabolism disease' http://purl.obolibrary.org/obo/MONDO_0045016 cholesterol catabolic process disease 'cholesterol catabolic process disease' SubClassOf 'cholesterol metabolism disease' 'cholesterol catabolic process disease' SubClassOf 'cholesterol metabolism disease' http://purl.obolibrary.org/obo/MONDO_0045014 tetrahydrobiopterin metabolic process disease 'tetrahydrobiopterin metabolic process disease' SubClassOf 'disorder of phenylalanine metabolism' 'tetrahydrobiopterin metabolic process disease' SubClassOf 'disorder of phenylalanine metabolism' http://purl.obolibrary.org/obo/MONDO_0045011 keratinization disease 'keratinization disease' SubClassOf 'integumentary system disease' 'keratinization disease' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease 'steroid metabolism disease' SubClassOf 'metabolic disease' 'steroid metabolism disease' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_238510 Lymphoproliferative syndrome 'Lymphoproliferative syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Lymphoproliferative syndrome' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'Lymphoproliferative syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238517 Hypotonia - cystinuria type 1 'Hypotonia - cystinuria type 1' SubClassOf 'Homozygous 2p21 microdeletion syndrome' 'Hypotonia - cystinuria type 1' SubClassOf 'Mitochondrial disease' 'Hypotonia - cystinuria type 1' SubClassOf 'Partial autosomal monosomy' 'Hypotonia - cystinuria type 1' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Hypotonia - cystinuria type 1' SubClassOf 'Disorder of energy metabolism' http://purl.obolibrary.org/obo/MONDO_0021076 pancreatic exocrine neoplasm 'pancreatic exocrine neoplasm' SubClassOf 'pancreatic neoplasm' 'pancreatic exocrine neoplasm' SubClassOf 'pancreatic neoplasm' http://www.orpha.net/ORDO/Orphanet_141163 Glossopalatine ankylosis 'Glossopalatine ankylosis' SubClassOf 'Oromandibular-limb hypogenesis syndrome' 'Glossopalatine ankylosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism 'disorder of organic acid metabolism' SubClassOf 'metabolic disease' 'disorder of organic acid metabolism' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_397951 Microcephaly-thin corpus callosum-intellectual disability syndrome 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_202940 Anomaly of puberty or/and menstrual cycle of genetic origin 'Anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'female reproductive system disease' 'Anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397964 Combined immunodeficiency due to MALT1 deficiency 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009406 glucose metabolism disease 'glucose metabolism disease' SubClassOf 'metabolic disease' 'glucose metabolism disease' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_202948 Syndromic microphthalmia 'Syndromic microphthalmia' SubClassOf 'anophthalmia-microphthalmia syndrome' 'Syndromic microphthalmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397933 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397937 Polyglucosan body myopathy 'Polyglucosan body myopathy' SubClassOf 'Muscular glycogenosis' 'Polyglucosan body myopathy' SubClassOf 'Glycogen storage disease' 'Polyglucosan body myopathy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Polyglucosan body myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009449 keratitis 'keratitis' SubClassOf 'corneal disease' 'keratitis' SubClassOf 'inflammatory disease' 'keratitis' SubClassOf 'corneal disease' 'keratitis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'Syndromic obesity' 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009450 conjunctivitis 'conjunctivitis' SubClassOf 'Conjunctival Disorder' 'conjunctivitis' SubClassOf 'inflammatory disease' 'conjunctivitis' SubClassOf 'Conjunctival Disorder' 'conjunctivitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_0009433 lower respiratory tract disease 'lower respiratory tract disease' SubClassOf 'respiratory system disease' 'lower respiratory tract disease' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0009430 neuralgia 'neuralgia' SubClassOf 'neurological pain disorder' 'neuralgia' SubClassOf 'neurological pain disorder' http://www.ebi.ac.uk/efo/EFO_0009431 intestinal disease 'intestinal disease' SubClassOf 'digestive system disease' 'intestinal disease' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0009466 Löfgren’s syndrome 'Löfgren’s syndrome' SubClassOf 'Sarcoidosis' 'Löfgren’s syndrome' SubClassOf 'lung disease' 'Löfgren’s syndrome' SubClassOf 'has_disease_location' some 'lung' http://www.ebi.ac.uk/efo/EFO_0009464 corneal disease 'corneal disease' SubClassOf 'eye disease' 'corneal disease' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0009451 hypoparathyroidism 'hypoparathyroidism' SubClassOf 'parathyroid disease' 'hypoparathyroidism' SubClassOf 'parathyroid disease' http://www.ebi.ac.uk/efo/EFO_0009454 gastric ulcer 'gastric ulcer' SubClassOf 'stomach disease' 'gastric ulcer' SubClassOf 'stomach disease' http://www.ebi.ac.uk/efo/EFO_0009488 spinal cord disease 'spinal cord disease' SubClassOf 'central nervous system disease' 'spinal cord disease' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009484 uterine polyp 'uterine polyp' SubClassOf 'uterine disorder' 'uterine polyp' SubClassOf 'polyp' 'uterine polyp' SubClassOf 'uterine disorder' 'uterine polyp' SubClassOf 'polyp' http://www.ebi.ac.uk/efo/EFO_0009487 nerve compression syndrome 'nerve compression syndrome' SubClassOf 'peripheral neuropathy' 'nerve compression syndrome' SubClassOf 'peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_261290 Trisomy 17p 'Trisomy 17p' SubClassOf 'Partial duplication of the short arm of chromosome 17' 'Trisomy 17p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009491 adrenocortical insufficiency 'adrenocortical insufficiency' SubClassOf 'adrenal cortex disorder' 'adrenocortical insufficiency' SubClassOf 'adrenal cortex disorder' http://www.ebi.ac.uk/efo/EFO_0009477 vertebral joint disease 'vertebral joint disease' SubClassOf 'vertebral column disorder' 'vertebral joint disease' SubClassOf 'joint disease' 'vertebral joint disease' SubClassOf 'vertebral column disorder' 'vertebral joint disease' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_0009478 vocal cord polyp 'vocal cord polyp' SubClassOf 'polyp' 'vocal cord polyp' SubClassOf 'polyp' http://www.orpha.net/ORDO/Orphanet_1067 Aniridia - ptosis - intellectual disability - familial obesity 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'Syndromic aniridia' 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'Rare cataract' http://www.orpha.net/ORDO/Orphanet_1064 Aniridia - renal agenesis - psychomotor retardation 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic renal or urinary tract malformation' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic aniridia' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Rare cataract' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1065 Aniridia - cerebellar ataxia - intellectual disability 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'Syndromic aniridia' 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'Rare cataract' http://www.orpha.net/ORDO/Orphanet_1062 Hereditary neurocutaneous angioma 'Hereditary neurocutaneous angioma' SubClassOf 'Genetic neurovascular malformation' 'Hereditary neurocutaneous angioma' SubClassOf 'Cerebral diseases of vascular origin with epilepsy' 'Hereditary neurocutaneous angioma' SubClassOf 'Malformation syndrome with hamartosis' 'Hereditary neurocutaneous angioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1063 Tufted angioma 'Tufted angioma' SubClassOf 'Genetic vascular anomaly' 'Tufted angioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1068 Aniridia-intellectual disability syndrome 'Aniridia-intellectual disability syndrome' SubClassOf 'Syndromic aniridia' 'Aniridia-intellectual disability syndrome' SubClassOf 'Rare cataract' 'Aniridia-intellectual disability syndrome' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' http://www.orpha.net/ORDO/Orphanet_1069 Aniridia - absent patella 'Aniridia - absent patella' SubClassOf 'Syndromic aniridia' 'Aniridia - absent patella' SubClassOf 'Rare cataract' 'Aniridia - absent patella' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' http://www.orpha.net/ORDO/Orphanet_1074 Ankyloblepharon filiforme - imperforate anus 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic anorectal malformation' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Genetic digestive tract malformation' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Eyelid malformation' http://www.orpha.net/ORDO/Orphanet_1071 Ankyloblepharon - ectodermal defects - cleft lip/palate 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Ectodermal dysplasia syndrome' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Rare genetic skin disease' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Eyelid malformation' http://www.orpha.net/ORDO/Orphanet_1072 Ankyloblepharon filiforme adnatum - cleft palate 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Eyelid malformation' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_397922 Ferro-cerebro-cutaneous syndrome 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Genetic parenchymatous liver disease' 'Ferro-cerebro-cutaneous syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1088 Short stature-heart defect-craniofacial anomalies syndrome 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1084 Isolated lissencephaly type 1 without known genetic defects 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'Classic lissencephaly' 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1083 Microlissencephaly 'Microlissencephaly' SubClassOf 'Lissencephaly' 'Microlissencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1094 Anonychia - microcephaly 'Anonychia - microcephaly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Anonychia - microcephaly' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1092 Renal-genital-middle ear anomalies 'Renal-genital-middle ear anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal-genital-middle ear anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Renal-genital-middle ear anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1143 Neurogenic arthrogryposis multiplex congenita 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_1144 Arthrogryposis-like hand anomaly - sensorineural deafness 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'Distal arthrogryposis' 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_1149 Arthrogryposis-like syndrome 'Arthrogryposis-like syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis-like syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1147 Sheldon-Hall syndrome 'Sheldon-Hall syndrome' SubClassOf 'Distal arthrogryposis' 'Sheldon-Hall syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_275872 Frontotemporal dementia with motor neuron disease 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Frontotemporal dementia with motor neuron disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1145 X-linked distal arthrogryposis multiplex congenita 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_1146 Digitotalar dysmorphism 'Digitotalar dysmorphism' SubClassOf 'Distal arthrogryposis' 'Digitotalar dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Digitotalar dysmorphism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1154 Arthrogryposis with oculomotor limitation and electroretinal anomalies 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'Distal arthrogryposis' 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_1155 Arthrogryposis due to muscular dystrophy 'Arthrogryposis due to muscular dystrophy' SubClassOf 'Congenital muscular dystrophy' 'Arthrogryposis due to muscular dystrophy' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis due to muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1150 Arthrogryposis multiplex congenita - whistling face 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_275864 Behavioral variant of frontotemporal dementia 'Behavioral variant of frontotemporal dementia' SubClassOf 'Frontotemporal dementia' 'Behavioral variant of frontotemporal dementia' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Behavioral variant of frontotemporal dementia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1159 Progressive pseudorheumatoid arthropathy of childhood 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011500 Becker nevus syndrome 'Becker nevus syndrome' SubClassOf 'inherited skin tumor' 'Becker nevus syndrome' SubClassOf 'inherited skin tumor' http://www.orpha.net/ORDO/Orphanet_261222 Distal 16p11.2 microdeletion syndrome 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'Syndromic obesity' 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Distal 16p11.2 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1166 Congenital unilateral hypoplasia of depressor anguli oris 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011518 Wiedemann-Steiner syndrome 'Wiedemann-Steiner syndrome' SubClassOf 'syndromic intellectual disability' 'Wiedemann-Steiner syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_1168 Ataxia - oculomotor apraxia type 1 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Coenzyme Q10 deficiency' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://purl.obolibrary.org/obo/MONDO_0011512 Brooke-Spiegler syndrome 'Brooke-Spiegler syndrome' SubClassOf 'autosomal dominant disease' 'Brooke-Spiegler syndrome' SubClassOf 'inherited skin tumor' 'Brooke-Spiegler syndrome' SubClassOf 'autosomal dominant disease' 'Brooke-Spiegler syndrome' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0011510 Bohring-Opitz syndrome 'Bohring-Opitz syndrome' SubClassOf 'syndromic intellectual disability' 'Bohring-Opitz syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_1177 Early-onset cerebellar ataxia with retained tendon reflexes 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1174 Cerebellar ataxia - ectodermal dysplasia 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1172 Autosomal recessive cerebellar ataxia 'Autosomal recessive cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Early-onset ataxia with dementia' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Rare hereditary ataxia' 'Autosomal recessive cerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1170 Autosomal recessive cerebelloparenchymal disorder type 3 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'Rare hereditary ataxia' 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'Early-onset ataxia with dementia' http://www.orpha.net/ORDO/Orphanet_1171 Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Autosomal dominant optic atrophy' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'hereditary optic atrophy' http://www.orpha.net/ORDO/Orphanet_1179 Benign paroxysmal tonic upgaze of childhood with ataxia 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'Rare paroxysmal movement disorder' 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1106 Microphthalmia with limb anomalies 'Microphthalmia with limb anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Microphthalmia with limb anomalies' SubClassOf 'Syndromic developmental defect of the eye' 'Microphthalmia with limb anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1104 Anophthalmia plus syndrome 'Anophthalmia plus syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Anophthalmia plus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1101 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_261272 17q12 microduplication syndrome '17q12 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q12 microduplication syndrome' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0011530 mesomelic dysplasia, Savarirayan type 'mesomelic dysplasia, Savarirayan type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'mesomelic dysplasia, Savarirayan type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011533 temtamy preaxial brachydactyly syndrome 'temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800094 http://purl.obolibrary.org/obo/MONDO_0011534 Charcot-Marie-Tooth disease type 4G 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_1110 Aortic arch anomaly - peculiar facies - intellectual disability 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1116 Aplasia cutis congenita - intestinal lymphangiectasia 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Syndromic lymphedema' http://www.orpha.net/ORDO/Orphanet_1117 Aplasia cutis - myopia 'Aplasia cutis - myopia' SubClassOf 'Syndromic myopia' 'Aplasia cutis - myopia' SubClassOf 'Rare genetic refraction anomaly' http://www.orpha.net/ORDO/Orphanet_1114 Circumscribed cutaneous aplasia of the vertex 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'Genetic mixed dermis disorder' 'Circumscribed cutaneous aplasia of the vertex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1115 Recessive aplasia cutis congenita of limbs 'Recessive aplasia cutis congenita of limbs' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Recessive aplasia cutis congenita of limbs' SubClassOf 'Genetic mixed dermis disorder' 'Recessive aplasia cutis congenita of limbs' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261265 17q12 microdeletion syndrome '17q12 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q12 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_1120 Lung agenesis - heart defect - thumb anomalies 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'Genetic respiratory or mediastinal malformation' http://www.orpha.net/ORDO/Orphanet_1129 Arachnodactyly - abnormal ossification - intellectual disability 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1125 Ocular motor apraxia, Cogan type 'Ocular motor apraxia, Cogan type' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Ocular motor apraxia, Cogan type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1126 Aprosencephaly cerebellar dysgenesis 'Aprosencephaly cerebellar dysgenesis' SubClassOf 'Midline cerebral malformation' 'Aprosencephaly cerebellar dysgenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1123 Caudal appendage - deafness 'Caudal appendage - deafness' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Caudal appendage - deafness' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0011551 TH-deficient dopa-responsive dystonia 'TH-deficient dopa-responsive dystonia' SubClassOf 'autosomal recessive disease' 'TH-deficient dopa-responsive dystonia' SubClassOf 'dopa-responsive dystonia' 'TH-deficient dopa-responsive dystonia' SubClassOf 'autosomal recessive disease' 'TH-deficient dopa-responsive dystonia' SubClassOf 'dopa-responsive dystonia' http://www.orpha.net/ORDO/Orphanet_261257 Distal 17p13.3 microdeletion syndrome 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Distal 17p13.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1136 Arnold-Chiari malformation type II 'Arnold-Chiari malformation type II' SubClassOf 'Spina bifida cystica' 'Arnold-Chiari malformation type II' SubClassOf 'Genetic non-syndromic central nervous system malformation' http://www.orpha.net/ORDO/Orphanet_1135 Arrhinia - choanal atresia - microphthalmia 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_309450 Disorder of O-xylosylglycan synthesis 'Disorder of O-xylosylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-xylosylglycan synthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011579 late-onset retinal degeneration 'late-onset retinal degeneration' SubClassOf 'inherited retinal dystrophy' 'late-onset retinal degeneration' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0011575 cerebrooculonasal syndrome 'cerebrooculonasal syndrome' SubClassOf 'syndromic intellectual disability' 'cerebrooculonasal syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011576 familial hyperaldosteronism type II 'familial hyperaldosteronism type II' SubClassOf 'familial hyperaldosteronism' 'familial hyperaldosteronism type II' SubClassOf 'familial hyperaldosteronism' http://www.orpha.net/ORDO/Orphanet_309458 Disorder of O-N-acetylgalactosaminylglycan synthesis 'Disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309469 Disorder of O-mannosylglycan synthesis 'Disorder of O-mannosylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-mannosylglycan synthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_189466 Familial isolated hypoparathyroidism due to impaired PTH secretion 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'Familial isolated hypoparathyroidism' 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35612 Nanophthalmia 'Nanophthalmia' SubClassOf 'Isolated anophthalmia - microphthalmia' 'Nanophthalmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309447 Disorder of protein O-glycosylation 'Disorder of protein O-glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of protein O-glycosylation' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'Disorder of protein O-glycosylation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_189439 Primary pigmented nodular adrenocortical disease 'Primary pigmented nodular adrenocortical disease' SubClassOf 'Rare genetic adrenal disease' 'Primary pigmented nodular adrenocortical disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 'vertebral, cardiac, renal, and limb defects syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800075 http://purl.obolibrary.org/obo/MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 'vertebral, cardiac, renal, and limb defects syndrome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800075 http://purl.obolibrary.org/obo/MONDO_0060556 joint laxity, short stature, and myopia 'joint laxity, short stature, and myopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800086 http://www.ebi.ac.uk/efo/EFO_0600008 mitochondrial heteroplasmy measurement 'mitochondrial heteroplasmy measurement' SubClassOf 'is_about' some 'Mitochondrial disease' http://www.orpha.net/ORDO/Orphanet_33001 Lymphedema - distichiasis 'Lymphedema - distichiasis' SubClassOf 'Secondary ectropion' 'Lymphedema - distichiasis' SubClassOf 'Syndromic lymphedema' http://www.orpha.net/ORDO/Orphanet_35664 ALDH18A1-related De Barsy syndrome 'ALDH18A1-related De Barsy syndrome' SubClassOf 'De Barsy syndrome' 'ALDH18A1-related De Barsy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35656 Coenzyme Q10 deficiency 'Coenzyme Q10 deficiency' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Coenzyme Q10 deficiency' SubClassOf 'Neurometabolic disease' 'Coenzyme Q10 deficiency' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Coenzyme Q10 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_371436 Genetic neurovascular malformation 'Genetic neurovascular malformation' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Genetic neurovascular malformation' SubClassOf 'Genetic vascular anomaly' 'Genetic neurovascular malformation' SubClassOf 'Rare genetic neurological disorder' 'Genetic neurovascular malformation' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_371439 Genetic cerebrovascular dementia 'Genetic cerebrovascular dementia' SubClassOf 'Genetic dementia' 'Genetic cerebrovascular dementia' SubClassOf 'has_disease_location' some 'brain' 'Genetic cerebrovascular dementia' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_141330 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://www.orpha.net/ORDO/Orphanet_371445 Genetic syndromic esophageal malformation 'Genetic syndromic esophageal malformation' SubClassOf 'Esophageal malformation' 'Genetic syndromic esophageal malformation' SubClassOf 'esophageal disease' 'Genetic syndromic esophageal malformation' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_141327 Orofaciodigital syndrome type 12 'Orofaciodigital syndrome type 12' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 12' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_371428 Multicentric osteolysis-nodulosis-arthropathy spectrum 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'Primary osteolysis' 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009321 diabetic macular edema 'diabetic macular edema' SubClassOf 'diabetic retinopathy' 'diabetic macular edema' SubClassOf 'diabetic retinopathy' http://www.ebi.ac.uk/efo/EFO_0009322 proliferative diabetic retinopathy 'proliferative diabetic retinopathy' SubClassOf 'diabetic retinopathy' 'proliferative diabetic retinopathy' SubClassOf 'diabetic retinopathy' http://www.orpha.net/ORDO/Orphanet_261197 Proximal 16p11.2 microdeletion syndrome 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Proximal 16p11.2 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261183 15q11.2 microdeletion syndrome '15q11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q11.2 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0009385 familial tumoral calcinosis 'familial tumoral calcinosis' SubClassOf 'inherited skin tumor' 'familial tumoral calcinosis' SubClassOf 'endocrine neoplasm' 'familial tumoral calcinosis' SubClassOf 'inherited skin tumor' 'familial tumoral calcinosis' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0009386 central nervous system disease 'central nervous system disease' SubClassOf 'nervous system disease' 'central nervous system disease' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009387 peripheral nervous system disease 'peripheral nervous system disease' SubClassOf 'nervous system disease' 'peripheral nervous system disease' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009383 tumoral calcinosis, hyperphosphatemic, familial, 2 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'bone neoplasm' 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'hereditary disorder of connective tissue' 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://www.ebi.ac.uk/efo/EFO_0009384 tumoral calcinosis, hyperphosphatemic, familial, 3 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'hereditary disorder of connective tissue' 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'bone neoplasm' http://www.ebi.ac.uk/efo/EFO_0009380 facial neuralgia 'facial neuralgia' SubClassOf 'facial nerve disease' 'facial neuralgia' SubClassOf 'facial nerve disease' http://www.orpha.net/ORDO/Orphanet_1023 Congenital generalized hypertrichosis, Ambras type 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'Hypertrichosis lanuginosa congenita' 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'Rare genetic skin disease' 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'Eyebrow/eyelashes hypertrichosis' 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_1020 Early-onset autosomal dominant Alzheimer disease 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'genetic dementia' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Alzheimer disease' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263768 Partial duplication of chromosome X 'Partial duplication of chromosome X' SubClassOf 'Chromosome X structural anomaly' 'Partial duplication of chromosome X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1028 Amelo-onycho-hypohidrotic syndrome 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'Rare genetic skin disease' 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_275752 Sickle cell disease and related diseases 'Sickle cell disease and related diseases' SubClassOf 'Hemoglobinopathy' 'Sickle cell disease and related diseases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1027 Autosomal recessive amelia 'Autosomal recessive amelia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Autosomal recessive amelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_275749 Beta-thalassemia and related diseases 'Beta-thalassemia and related diseases' SubClassOf 'Thalassemia' 'Beta-thalassemia and related diseases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263775 Partial duplication of the short arm of chromosome X 'Partial duplication of the short arm of chromosome X' SubClassOf 'Partial duplication of chromosome X' 'Partial duplication of the short arm of chromosome X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1032 Hyperdibasic aminoaciduria type 1 'Hyperdibasic aminoaciduria type 1' SubClassOf 'Disorder of amino acid absorption and transport' 'Hyperdibasic aminoaciduria type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263756 Partial deletion of the long arm of chromosome X 'Partial deletion of the long arm of chromosome X' SubClassOf 'Partial deletion of chromosome X' 'Partial deletion of the long arm of chromosome X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_275745 Alpha-thalassemia and related diseases 'Alpha-thalassemia and related diseases' SubClassOf 'Thalassemia' 'Alpha-thalassemia and related diseases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_275742 Genetic infertility 'Genetic infertility' SubClassOf 'genetic disorder' 'Genetic infertility' SubClassOf 'has_disease_location' some 'reproductive system' 'Genetic infertility' SubClassOf 'reproductive system disease' 'Genetic infertility' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1037 Arthrogryposis multiplex congenita 'Arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis syndrome' 'Arthrogryposis multiplex congenita' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1035 Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'Genetic neurodegenerative disease' 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261102 Distal 7q11.23 microduplication syndrome 'Distal 7q11.23 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 7' 'Distal 7q11.23 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309505 Disorder of fucoglycosan synthesis 'Disorder of fucoglycosan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of fucoglycosan synthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1040 Metaphyseal anadysplasia 'Metaphyseal anadysplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal anadysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1048 Isolated anencephaly/exencephaly 'Isolated anencephaly/exencephaly' SubClassOf 'Neural tube closure defect' 'Isolated anencephaly/exencephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Isolated anencephaly/exencephaly' SubClassOf 'Genetic non-syndromic central nervous system malformation' http://www.orpha.net/ORDO/Orphanet_1046 Lethal hemolytic anemia - genital anomalies 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'Syndromic urogenital tract malformation' 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_248111 Juvenile Huntington disease 'Juvenile Huntington disease' SubClassOf 'Neurodegenerative disease with chorea' 'Juvenile Huntington disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Juvenile Huntington disease' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Juvenile Huntington disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1052 Mosaic variegated aneuploidy syndrome 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Chromosomal anomaly' 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Mosaic variegated aneuploidy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1059 Blue rubber bleb nevus 'Blue rubber bleb nevus' SubClassOf 'Genetic vascular anomaly' 'Blue rubber bleb nevus' SubClassOf 'Inherited cancer-predisposing syndrome' 'Blue rubber bleb nevus' SubClassOf 'Genetic skin vascular disorder' 'Blue rubber bleb nevus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'syndromic intellectual disability' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011417 hemochromatosis type 3 'hemochromatosis type 3' SubClassOf 'hereditary hemochromatosis' 'hemochromatosis type 3' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 'ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800090 http://www.orpha.net/ORDO/Orphanet_1000 Ocular albinism with late-onset sensorineural deafness 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Ocular albinism' 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Ocular albinism with late-onset sensorineural deafness' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1008 Alopecia - epilepsy - pyorrhea - intellectual disability 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'Alopecia' 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'Rare genetic skin disease' 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_275777 Heritable pulmonary arterial hypertension 'Heritable pulmonary arterial hypertension' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' 'Heritable pulmonary arterial hypertension' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'spinal muscular atrophy' 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_1006 Alopecia antibody deficiency 'Alopecia antibody deficiency' SubClassOf 'Alopecia' 'Alopecia antibody deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1005 Alopecia-contractures-dwarfism-intellectual disability syndrome 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'Rare genetic skin disease' 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_275766 Idiopathic pulmonary arterial hypertension 'Idiopathic pulmonary arterial hypertension' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' 'Idiopathic pulmonary arterial hypertension' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1018 X-linked diffuse leiomyomatosis - Alport syndrome 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'Partial deletion of the long arm of chromosome X' 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'Chromosome X structural anomaly' http://www.orpha.net/ORDO/Orphanet_275761 Lysosomal acid lipase deficiency 'Lysosomal acid lipase deficiency' SubClassOf 'Lipid storage disease' 'Lysosomal acid lipase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Lysosomal acid lipase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1014 Alopecia - intellectual disability - hypergonadotropic hypogonadism 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'Alopecia' 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'genetic skin disease' 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_263783 Partial duplication of the long arm of chromosome X 'Partial duplication of the long arm of chromosome X' SubClassOf 'Partial duplication of chromosome X' 'Partial duplication of the long arm of chromosome X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 'hereditary spastic paraplegia 11' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 11' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 'arrhythmogenic right ventricular dysplasia 5' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 5' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://www.orpha.net/ORDO/Orphanet_238744 Mammary-digital-nail syndrome 'Mammary-digital-nail syndrome' SubClassOf 'female reproductive system disease' 'Mammary-digital-nail syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Mammary-digital-nail syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_238722 Familial congenital mirror movements 'Familial congenital mirror movements' SubClassOf 'Rare genetic movement disorder' 'Familial congenital mirror movements' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309568 Defect in conserved oligomeric Golgi complex 'Defect in conserved oligomeric Golgi complex' SubClassOf 'Disorder of multiple glycosylation' 'Defect in conserved oligomeric Golgi complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011481 craniosynostosis 2 'craniosynostosis 2' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis 2' SubClassOf 'syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_263726 Partial deletion of chromosome X 'Partial deletion of chromosome X' SubClassOf 'Chromosome X structural anomaly' 'Partial deletion of chromosome X' SubClassOf http://www.w3.org/2002/07/owl#Thing 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 'hereditary disorder of connective tissue' 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'type 2 collagenopathy' 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'type 2 collagenopathy' http://www.orpha.net/ORDO/Orphanet_263731 Partial monosomy of the short arm of chromosome X 'Partial monosomy of the short arm of chromosome X' SubClassOf 'Partial deletion of chromosome X' 'Partial monosomy of the short arm of chromosome X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011499 Okamoto syndrome 'Okamoto syndrome' SubClassOf 'syndromic intellectual disability' 'Okamoto syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011493 Stickler syndrome type 2 'Stickler syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800087 http://www.orpha.net/ORDO/Orphanet_263708 Complex chromosomal rearrangement 'Complex chromosomal rearrangement' SubClassOf 'Autosomal anomaly' 'Complex chromosomal rearrangement' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_238750 4q21 microdeletion syndrome '4q21 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 4' '4q21 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_238755 Autosomal dominant limb-girdle muscular dystrophy type 1H 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'Hereditary glaucoma' 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238766 Ptosis - syndactyly - learning difficulties 'Ptosis - syndactyly - learning difficulties' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ptosis - syndactyly - learning difficulties' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_309526 Disorder of multiple glycosylation 'Disorder of multiple glycosylation' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'Disorder of multiple glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of multiple glycosylation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79383 Lymphedema 'Lymphedema' SubClassOf 'skin disease' 'Lymphedema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280671 Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_280679 Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_79373 Ectodermal dysplasia syndrome 'Ectodermal dysplasia syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ectodermal dysplasia syndrome' SubClassOf 'Genetic epidermal appendage anomaly' 'Ectodermal dysplasia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79370 Syndromic nail anomaly 'Syndromic nail anomaly' SubClassOf 'Genetic nail anomaly' 'Syndromic nail anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79367 Syndromic hair shaft abnormality 'Syndromic hair shaft abnormality' SubClassOf 'Genetic hair anomaly' 'Syndromic hair shaft abnormality' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79366 Isolated hair shaft abnormality 'Isolated hair shaft abnormality' SubClassOf 'Genetic hair anomaly' 'Isolated hair shaft abnormality' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_79369 Isolated nail anomaly 'Isolated nail anomaly' SubClassOf 'Genetic nail anomaly' 'Isolated nail anomaly' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_79365 Hypertrichosis 'Hypertrichosis' SubClassOf 'Genetic hair anomaly' 'Hypertrichosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79364 Alopecia 'Alopecia' SubClassOf 'Genetic hair anomaly' 'Alopecia' SubClassOf 'genetic skin disease' 'Alopecia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79361 Inherited epidermolysis bullosa 'Inherited epidermolysis bullosa' SubClassOf 'Genetic epidermal disorder' 'Inherited epidermolysis bullosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018715 congenital hemangioma 'congenital hemangioma' SubClassOf 'hemangioma' 'congenital hemangioma' SubClassOf 'hemangioma' http://www.orpha.net/ORDO/Orphanet_79357 Hereditary palmoplantar keratoderma 'Hereditary palmoplantar keratoderma' SubClassOf 'Genetic epidermal disorder' 'Hereditary palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' SubClassOf 'Neurometabolic disorder due to serine deficiency' '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' SubClassOf 'Disorder of serine or glycine metabolism' http://www.orpha.net/ORDO/Orphanet_79350 3-phosphoserine phosphatase deficiency '3-phosphoserine phosphatase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' '3-phosphoserine phosphatase deficiency' SubClassOf 'Disorder of serine or glycine metabolism' http://www.orpha.net/ORDO/Orphanet_280620 Progressive myoclonic epilepsy type 6 'Progressive myoclonic epilepsy type 6' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive myoclonic epilepsy type 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280628 Familial progressive hyper- and hypopigmentation 'Familial progressive hyper- and hypopigmentation' SubClassOf 'Genetic pigmentation anomaly of the skin' 'Familial progressive hyper- and hypopigmentation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280633 Multiple congenital anomalies - hypotonia - seizures syndrome 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0006751 Erysipelothrix infectious disease 'Erysipelothrix infectious disease' SubClassOf 'gram-positive bacterial infections' 'Erysipelothrix infectious disease' SubClassOf 'gram-positive bacterial infections' http://www.orpha.net/ORDO/Orphanet_280640 Occipital pachygyria and polymicrogyria 'Occipital pachygyria and polymicrogyria' SubClassOf 'Non-syndromic cerebral malformation due to abnormal neuronal migration' 'Occipital pachygyria and polymicrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018740 drug-induced methemoglobinemia 'drug-induced methemoglobinemia' SubClassOf 'methemoglobinemia' 'drug-induced methemoglobinemia' SubClassOf 'methemoglobinemia' http://www.orpha.net/ORDO/Orphanet_280651 Acrodysostosis with multiple hormone resistance 'Acrodysostosis with multiple hormone resistance' SubClassOf 'Acrofacial dysostosis' 'Acrodysostosis with multiple hormone resistance' SubClassOf 'Mandibulofacial dysostosis' 'Acrodysostosis with multiple hormone resistance' SubClassOf 'Genetic polyendocrinopathy' 'Acrodysostosis with multiple hormone resistance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79395 Keratoderma hereditarium mutilans with ichthyosis 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_79394 Congenital non-bullous ichthyosiform erythroderma 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228003 Severe combined immunodeficiency due to CORO1A deficiency 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169189 Autosomal dominant centronuclear myopathy 'Autosomal dominant centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'Autosomal dominant centronuclear myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169186 Autosomal recessive centronuclear myopathy 'Autosomal recessive centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'Autosomal recessive centronuclear myopathy' SubClassOf 'Qualitative or quantitative defects of titin' 'Autosomal recessive centronuclear myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004126 thyroiditis 'thyroiditis' SubClassOf 'thyroid disease' 'thyroiditis' SubClassOf 'inflammatory disease' 'thyroiditis' SubClassOf 'thyroid disease' 'thyroiditis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_70 Proximal spinal muscular atrophy 'Proximal spinal muscular atrophy' SubClassOf 'Genetic motor neuron disease' 'Proximal spinal muscular atrophy' SubClassOf 'hereditary motor neuron disease' 'Proximal spinal muscular atrophy' SubClassOf 'Genetic peripheral neuropathy' 'Proximal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'Proximal spinal muscular atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_71 Chylomicron retention disease 'Chylomicron retention disease' SubClassOf 'Hypobetalipoproteinemia' 'Chylomicron retention disease' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Chylomicron retention disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228000 Idiopathic CD4 lymphocytopenia 'Idiopathic CD4 lymphocytopenia' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Idiopathic CD4 lymphocytopenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_77 Aniridia 'Aniridia' SubClassOf 'Iridogoniodysgenesis' 'Aniridia' SubClassOf 'Major induction processes eye anomaly' 'Aniridia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004139 normocytic anemia 'normocytic anemia' SubClassOf 'anemia' 'normocytic anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0016117 muscular lipidosis 'muscular lipidosis' SubClassOf 'metabolic myopathy' 'muscular lipidosis' SubClassOf 'metabolic myopathy' http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome 'Joubert syndrome' SubClassOf 'syndromic disease' 'Joubert syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016113 bulbospinal muscular atrophy 'bulbospinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'bulbospinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_85 Congenital dyserythropoietic anemia 'Congenital dyserythropoietic anemia' SubClassOf 'Constitutional dyserythropoietic anemia' 'Congenital dyserythropoietic anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86 Familial abdominal aortic aneurysm 'Familial abdominal aortic aneurysm' SubClassOf 'Rare genetic vascular disease' 'Familial abdominal aortic aneurysm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_87 Apert syndrome 'Apert syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Apert syndrome' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Apert syndrome' SubClassOf 'Acrocephalosyndactyly' 'Apert syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314588 Distal tetrasomy 15q 'Distal tetrasomy 15q' SubClassOf '15q overgrowth syndrome' 'Distal tetrasomy 15q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231679 Isolated growth hormone deficiency type II 'Isolated growth hormone deficiency type II' SubClassOf 'Non-acquired isolated growth hormone deficiency' 'Isolated growth hormone deficiency type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231671 Isolated growth hormone deficiency type IB 'Isolated growth hormone deficiency type IB' SubClassOf 'Non-acquired isolated growth hormone deficiency' 'Isolated growth hormone deficiency type IB' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_56 Alkaptonuria 'Alkaptonuria' SubClassOf 'Metabolic disease with skin involvement' 'Alkaptonuria' SubClassOf 'Pigmented conjunctival lesion' 'Alkaptonuria' SubClassOf 'Disorder of tyrosine metabolism' 'Alkaptonuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_57 Glycogen storage disease due to aldolase A deficiency 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome 'Aicardi-Goutières syndrome' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_53 Albers-Schönberg osteopetrosis 'Albers-Schönberg osteopetrosis' SubClassOf 'Osteopetrosis' 'Albers-Schönberg osteopetrosis' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0018781 KID syndrome 'KID syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'KID syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_55 Oculocutaneous albinism 'Oculocutaneous albinism' SubClassOf 'Genetic hypopigmentation of the skin' 'Oculocutaneous albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Oculocutaneous albinism' SubClassOf 'Disorder of melanin metabolism' 'Oculocutaneous albinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228012 Progressive sensorineural hearing loss - hypertrophic cardiomyopathy 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_231662 Isolated growth hormone deficiency type IA 'Isolated growth hormone deficiency type IA' SubClassOf 'Non-acquired isolated growth hormone deficiency' 'Isolated growth hormone deficiency type IA' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280615 Hemoglobinopathy Toms River 'Hemoglobinopathy Toms River' SubClassOf 'Hemoglobinopathy' 'Hemoglobinopathy Toms River' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_60 Alpha-1-antitrypsin deficiency 'Alpha-1-antitrypsin deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Alpha-1-antitrypsin deficiency' SubClassOf 'Rare genetic renal disease' http://www.orpha.net/ORDO/Orphanet_61 Alpha-mannosidosis 'Alpha-mannosidosis' SubClassOf 'Neurometabolic disease' 'Alpha-mannosidosis' SubClassOf 'Metabolic disease with corneal opacity' 'Alpha-mannosidosis' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Alpha-mannosidosis' SubClassOf 'Metabolic disease with cataract' 'Alpha-mannosidosis' SubClassOf 'Oligosaccharidosis' 'Alpha-mannosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Alpha-mannosidosis' SubClassOf 'Cataract associated with a metabolic disease' 'Alpha-mannosidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_62 Autosomal recessive limb-girdle muscular dystrophy type 2D 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Qualitative or quantitative defects of alpha-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169142 Recurrent infection due to specific granule deficiency 'Recurrent infection due to specific granule deficiency' SubClassOf 'Functional neutrophil defect' 'Recurrent infection due to specific granule deficiency' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://www.orpha.net/ORDO/Orphanet_231692 Isolated growth hormone deficiency type III 'Isolated growth hormone deficiency type III' SubClassOf 'Non-acquired isolated growth hormone deficiency' 'Isolated growth hormone deficiency type III' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35 Propionic acidemia 'Propionic acidemia' SubClassOf 'Classic organic aciduria' 'Propionic acidemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_36 Acrocallosal syndrome 'Acrocallosal syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Acrocallosal syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Acrocallosal syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Acrocallosal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrocallosal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_37 Acrodermatitis enteropathica 'Acrodermatitis enteropathica' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Acrodermatitis enteropathica' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Acrodermatitis enteropathica' SubClassOf 'Disorder of zinc metabolism' 'Acrodermatitis enteropathica' SubClassOf 'Metabolic disease with skin involvement' 'Acrodermatitis enteropathica' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016146 caveolinopathy 'caveolinopathy' SubClassOf 'muscular disease' http://www.orpha.net/ORDO/Orphanet_30 Hereditary orotic aciduria 'Hereditary orotic aciduria' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Hereditary orotic aciduria' SubClassOf 'Constitutional deficiency anemia' http://www.orpha.net/ORDO/Orphanet_31 Oxoglutaricaciduria 'Oxoglutaricaciduria' SubClassOf 'Tricarboxylic acid cycle disorder' 'Oxoglutaricaciduria' SubClassOf 'Neurometabolic disease' 'Oxoglutaricaciduria' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Oxoglutaricaciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33 Isovaleric acidemia 'Isovaleric acidemia' SubClassOf 'Classic organic aciduria' 'Isovaleric acidemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314572 Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Rare genetic neurological disorder' 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_169139 Transient hypogammaglobulinemia of infancy 'Transient hypogammaglobulinemia of infancy' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Transient hypogammaglobulinemia of infancy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_45 Adenosine monophosphate deaminase deficiency 'Adenosine monophosphate deaminase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenosine monophosphate deaminase deficiency' SubClassOf 'Mitochondrial myopathy' 'Adenosine monophosphate deaminase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_46 Adenylosuccinate lyase deficiency 'Adenylosuccinate lyase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenylosuccinate lyase deficiency' SubClassOf 'Rare disease with autism' 'Adenylosuccinate lyase deficiency' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Adenylosuccinate lyase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_47 X-linked agammaglobulinemia 'X-linked agammaglobulinemia' SubClassOf 'Isolated agammaglobulinemia' 'X-linked agammaglobulinemia' SubClassOf 'inborn errors of immunity' http://purl.obolibrary.org/obo/MONDO_0004180 benign urinary system neoplasm 'benign urinary system neoplasm' SubClassOf 'urinary system neoplasm' 'benign urinary system neoplasm' SubClassOf 'benign neoplasm' 'benign urinary system neoplasm' SubClassOf 'urinary system neoplasm' 'benign urinary system neoplasm' SubClassOf 'benign neoplasm' http://www.orpha.net/ORDO/Orphanet_48 Congenital bilateral absence of vas deferens 'Congenital bilateral absence of vas deferens' SubClassOf 'Genetic urogenital tract malformation' 'Congenital bilateral absence of vas deferens' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' 'Congenital bilateral absence of vas deferens' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_40 Acromesomelic dysplasia, Maroteaux type 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'Acromesomelic dysplasia' 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_41 Dyschromatosis symmetrica hereditaria 'Dyschromatosis symmetrica hereditaria' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dyschromatosis symmetrica hereditaria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_42 Medium chain acyl-CoA dehydrogenase deficiency 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_43 X-linked adrenoleukodystrophy 'X-linked adrenoleukodystrophy' SubClassOf 'Leukodystrophy' 'X-linked adrenoleukodystrophy' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_169163 Familial scaphocephaly syndrome 'Familial scaphocephaly syndrome' SubClassOf 'Syndromic craniosynostosis' 'Familial scaphocephaly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004187 nodular fasciitis 'nodular fasciitis' SubClassOf 'fasciitis' 'nodular fasciitis' SubClassOf 'fasciitis' http://purl.obolibrary.org/obo/MONDO_0004183 axonal neuropathy 'axonal neuropathy' SubClassOf 'peripheral neuropathy' 'axonal neuropathy' SubClassOf 'peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_14 Abetalipoproteinemia 'Abetalipoproteinemia' SubClassOf 'Constitutional hemolytic anemia due to acanthocytosis' 'Abetalipoproteinemia' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Abetalipoproteinemia' SubClassOf 'Hypobetalipoproteinemia' 'Abetalipoproteinemia' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Abetalipoproteinemia' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Abetalipoproteinemia' SubClassOf 'Neurometabolic disease' 'Abetalipoproteinemia' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Abetalipoproteinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_15 Achondroplasia 'Achondroplasia' SubClassOf 'has_disease_location' some 'cartilage' 'Achondroplasia' SubClassOf 'Primary bone dysplasia with micromelia' 'Achondroplasia' SubClassOf 'cartilage disease' 'Achondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'Achondroplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_17 Fatal infantile lactic acidosis with methylmalonic aciduria 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'Metabolic disease with intestinal involvement' 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'Mitochondrial myopathy' 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'Mitochondrial disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_18 Distal renal tubular acidosis 'Distal renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' 'Distal renal tubular acidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_11 Pentasomy X 'Pentasomy X' SubClassOf 'Polysomy of X chromosome' 'Pentasomy X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_23 Argininosuccinic aciduria 'Argininosuccinic aciduria' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Argininosuccinic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_24 Fumaric aciduria 'Fumaric aciduria' SubClassOf 'Tricarboxylic acid cycle disorder' 'Fumaric aciduria' SubClassOf 'Neurometabolic disease' 'Fumaric aciduria' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Fumaric aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_25 Glutaryl-CoA dehydrogenase deficiency 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'Cerebral organic aciduria' 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Classic organic aciduria' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Organic aciduria' http://purl.obolibrary.org/obo/MONDO_0043765 presbycusis 'presbycusis' SubClassOf 'hearing loss' 'presbycusis' SubClassOf 'hearing loss' http://www.orpha.net/ORDO/Orphanet_28 Vitamin B12-responsive methylmalonic acidemia 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Methylmalonic acidemia without homocystinuria' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura 'thrombocytopenic purpura' SubClassOf 'purpura' 'thrombocytopenic purpura' SubClassOf 'purpura' http://www.orpha.net/ORDO/Orphanet_29 Mevalonic aciduria 'Mevalonic aciduria' SubClassOf 'Metabolic disease with cataract' 'Mevalonic aciduria' SubClassOf 'Mevalonate kinase deficiency' 'Mevalonic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004720 prion disease 'prion disease' SubClassOf 'central nervous system infection' 'prion disease' SubClassOf 'brain disease' 'prion disease' SubClassOf 'central nervous system infection' 'prion disease' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0041161 endometrial hyperplasia 'endometrial hyperplasia' SubClassOf 'endometrial disorder' 'endometrial hyperplasia' SubClassOf 'endometrial disorder' http://www.orpha.net/ORDO/Orphanet_206644 Progressive muscular dystrophy 'Progressive muscular dystrophy' SubClassOf 'Muscular dystrophy' 'Progressive muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206647 Myotonic dystrophy 'Myotonic dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Myotonic dystrophy' SubClassOf 'Myotonic syndrome' 'Myotonic dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206656 Non-dystrophic myopathy 'Non-dystrophic myopathy' SubClassOf 'Genetic skeletal muscle disease' 'Non-dystrophic myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206650 Autosomal dominant distal myopathy 'Autosomal dominant distal myopathy' SubClassOf 'Distal myopathy' 'Autosomal dominant distal myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206653 Autosomal recessive distal myopathy 'Autosomal recessive distal myopathy' SubClassOf 'Distal myopathy' 'Autosomal recessive distal myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206659 Non-dystrophic myopathy with collagen 6 anomaly 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Non-dystrophic myopathy' 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Genetic skeletal muscle disease' http://www.ebi.ac.uk/efo/EFO_0004777 alcohol withdrawal 'alcohol withdrawal' SubClassOf 'substance withdrawal syndrome' 'alcohol withdrawal' SubClassOf 'substance withdrawal syndrome' http://www.orpha.net/ORDO/Orphanet_206662 Inclusion myopathy 'Inclusion myopathy' SubClassOf 'Non-dystrophic myopathy' 'Inclusion myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0041182 polymorphic light eruption 'polymorphic light eruption' SubClassOf 'photosensitivity disease' 'polymorphic light eruption' SubClassOf 'photosensitivity disease' http://www.ebi.ac.uk/efo/EFO_0002120 C33A 'C33A' SubClassOf 'cervical cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002123 C4II 'C4II' SubClassOf 'cervical cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002122 C4I 'C4I' SubClassOf 'cervical cancer cell line' http://www.orpha.net/ORDO/Orphanet_157215 Hereditary hypophosphatemic rickets with hypercalciuria 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'Hypophosphatemic rickets' 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Genetic renal tubular disease' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Neurometabolic disease' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Rare metabolic liver disease' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363528 Intellectual disability-strabismus syndrome 'Intellectual disability-strabismus syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Intellectual disability-strabismus syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability-strabismus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'Qualitative or quantitative defects of desmin' 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_79409 Recessive dystrophic epidermolysis bullosa inversa 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79414 Woolly hair nevus 'Woolly hair nevus' SubClassOf 'Isolated hair shaft abnormality' 'Woolly hair nevus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79411 Transient bullous dermolysis of the newborn 'Transient bullous dermolysis of the newborn' SubClassOf 'Dystrophic epidermolysis bullosa' 'Transient bullous dermolysis of the newborn' SubClassOf 'perinatal disease' 'Transient bullous dermolysis of the newborn' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79410 Pretibial dystrophic epidermolysis bullosa 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Pretibial dystrophic epidermolysis bullosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002171 DoTc2 'DoTc2' SubClassOf 'cervical cancer cell line' http://www.orpha.net/ORDO/Orphanet_79404 Junctional epidermolysis bullosa, Herlitz type 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Genetic epidermal disorder' 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'inherited epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79403 Junctional epidermolysis bullosa - pyloric atresia 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'inherited epidermolysis bullosa' 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'Genetic epidermal disorder' 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_79406 Late-onset junctional epidermolysis bullosa 'Late-onset junctional epidermolysis bullosa' SubClassOf 'Junctional epidermolysis bullosa' 'Late-onset junctional epidermolysis bullosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79405 Junctional epidermolysis bullosa inversa 'Junctional epidermolysis bullosa inversa' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa inversa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79402 Generalized junctional epidermolysis bullosa, non-Herlitz type 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa, non-Herlitz type' 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'inherited epidermolysis bullosa' 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Genetic epidermal disorder' http://www.orpha.net/ORDO/Orphanet_280586 Chondrodysplasia with joint dislocations, gPAPP type 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280598 Hereditary sensorimotor neuropathy with hyperelastic skin 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'Hereditary motor and sensory neuropathy' 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79459 Follicular atrophoderma-basal cell carcinoma 'Follicular atrophoderma-basal cell carcinoma' SubClassOf 'Bazex-Dupré-Christol syndrome' 'Follicular atrophoderma-basal cell carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79458 Oley syndrome 'Oley syndrome' SubClassOf 'Malignant tumor of palpebral epidermis' 'Oley syndrome' SubClassOf 'Palpebral tumor' http://www.orpha.net/ORDO/Orphanet_79452 Milroy disease 'Milroy disease' SubClassOf 'Primary lymphedema' http://www.orpha.net/ORDO/Orphanet_79444 Pseudohypoparathyroidism type 1C 'Pseudohypoparathyroidism type 1C' SubClassOf 'Albright hereditary osteodystrophy' 'Pseudohypoparathyroidism type 1C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79445 Pseudopseudohypoparathyroidism 'Pseudopseudohypoparathyroidism' SubClassOf 'Albright hereditary osteodystrophy' 'Pseudopseudohypoparathyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79433 Oculocutaneous albinism type 3 'Oculocutaneous albinism type 3' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79432 Oculocutaneous albinism type 2 'Oculocutaneous albinism type 2' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79435 Oculocutaneous albinism type 4 'Oculocutaneous albinism type 4' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79434 Oculocutaneous albinism type 1B 'Oculocutaneous albinism type 1B' SubClassOf 'Oculocutaneous albinism type 1' 'Oculocutaneous albinism type 1B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79431 Oculocutaneous albinism type 1A 'Oculocutaneous albinism type 1A' SubClassOf 'Oculocutaneous albinism type 1' 'Oculocutaneous albinism type 1A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79264 Juvenile neuronal ceroid lipofuscinosis 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79263 Infantile neuronal ceroid lipofuscinosis 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Infantile neuronal ceroid lipofuscinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79262 Adult neuronal ceroid lipofuscinosis 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Adult neuronal ceroid lipofuscinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280553 Fatal infantile hypertonic myofibrillar myopathy 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'Alpha-crystallinopathy' 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0002510 Spastic tetraplegia 'Spastic tetraplegia' SubClassOf 'Abnormality of movement' http://www.orpha.net/ORDO/Orphanet_79253 Mild phenylketonuria 'Mild phenylketonuria' SubClassOf 'Phenylketonuria' 'Mild phenylketonuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79254 Classical phenylketonuria 'Classical phenylketonuria' SubClassOf 'Phenylketonuria' 'Classical phenylketonuria' SubClassOf 'Rare genetic neurological disorder' 'Classical phenylketonuria' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' http://www.orpha.net/ORDO/Orphanet_314621 Duplication of the pituitary gland 'Duplication of the pituitary gland' SubClassOf 'Midline cerebral malformation' 'Duplication of the pituitary gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280569 Rapidly progressive glomerulonephritis 'Rapidly progressive glomerulonephritis' SubClassOf 'Primary glomerular disease' 'Rapidly progressive glomerulonephritis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314629 CLN11 disease 'CLN11 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN11 disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'CLN11 disease' SubClassOf 'Lysosomal disease' 'CLN11 disease' SubClassOf 'Genetic neurodegenerative disease' 'CLN11 disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'CLN11 disease' SubClassOf 'Progressive myoclonic epilepsy' http://www.orpha.net/ORDO/Orphanet_79246 Pyruvate dehydrogenase phosphatase deficiency 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79242 Holocarboxylase synthetase deficiency 'Holocarboxylase synthetase deficiency' SubClassOf 'Multiple carboxylase deficiency' 'Holocarboxylase synthetase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79241 Biotinidase deficiency 'Biotinidase deficiency' SubClassOf 'participates_in' some ('biotin metabolic process' and ('has component' some 'abnormal')) 'Biotinidase deficiency' SubClassOf 'vitamin metabolic disorder' 'Biotinidase deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Biotinidase deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Biotinidase deficiency' SubClassOf 'Multiple carboxylase deficiency' 'Biotinidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79244 Pyruvate dehydrogenase E2 deficiency 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79243 Pyruvate dehydrogenase E1-alpha deficiency 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314632 Parkinsonism due to ATP13A2 deficiency 'Parkinsonism due to ATP13A2 deficiency' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Parkinsonism due to ATP13A2 deficiency' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Parkinsonism due to ATP13A2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/DOID_13406 pulmonary sarcoidosis 'pulmonary sarcoidosis' SubClassOf 'Sarcoidosis' 'pulmonary sarcoidosis' SubClassOf 'sarcoidosis' 'pulmonary sarcoidosis' SubClassOf 'has_disease_location' some 'lung' 'pulmonary sarcoidosis' SubClassOf 'sarcoidosis' http://www.orpha.net/ORDO/Orphanet_314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79239 Classic galactosemia 'Classic galactosemia' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Classic galactosemia' SubClassOf 'Non-acquired premature ovarian failure' 'Classic galactosemia' SubClassOf 'Galactosemia' 'Classic galactosemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79238 Galactose epimerase deficiency 'Galactose epimerase deficiency' SubClassOf 'Galactosemia' 'Galactose epimerase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79237 Galactokinase deficiency 'Galactokinase deficiency' SubClassOf 'Galactosemia' 'Galactokinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79230 Hemochromatosis type 2 'Hemochromatosis type 2' SubClassOf 'Rare hereditary hemochromatosis' 'Hemochromatosis type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363611 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314603 Autosomal recessive spastic ataxia with leukoencephalopathy 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Autosomal recessive spastic ataxia' 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Rare hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_363623 Autosomal recessive limb-girdle muscular dystrophy type 2T 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018612 congenital hypothyroidism 'congenital hypothyroidism' SubClassOf 'hypothyroidism' 'congenital hypothyroidism' SubClassOf 'hypothyroidism' http://www.orpha.net/ORDO/Orphanet_79299 Hyperinsulinism due to glucokinase deficiency 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'Disorder of glycolysis' 'Hyperinsulinism due to glucokinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79298 Diazoxide-resistant focal hyperinsulinism 'Diazoxide-resistant focal hyperinsulinism' SubClassOf 'Diazoxide-resistant hyperinsulinism' 'Diazoxide-resistant focal hyperinsulinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79280 Alpha-N-acetylgalactosaminidase deficiency type 2 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79281 Alpha-N-acetylgalactosaminidase deficiency type 3 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79279 Alpha-N-acetylgalactosaminidase deficiency type 1 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79278 Erythropoietic protoporphyria 'Erythropoietic protoporphyria' SubClassOf 'Porphyria' 'Erythropoietic protoporphyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79277 Congenital erythropoietic porphyria 'Congenital erythropoietic porphyria' SubClassOf 'Porphyria' 'Congenital erythropoietic porphyria' SubClassOf 'Disorder of porphyrin and haem metabolism' 'Congenital erythropoietic porphyria' SubClassOf 'Metabolic disease with skin involvement' 'Congenital erythropoietic porphyria' SubClassOf 'Genetic photodermatosis' 'Congenital erythropoietic porphyria' SubClassOf 'Rare genetic renal disease' http://www.orpha.net/ORDO/Orphanet_79276 Acute intermittent porphyria 'Acute intermittent porphyria' SubClassOf 'Acute hepatic porphyria' 'Acute intermittent porphyria' SubClassOf 'Nuclear oculomotor paralysis' 'Acute intermittent porphyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79273 Hereditary coproporphyria 'Hereditary coproporphyria' SubClassOf 'Acute hepatic porphyria' 'Hereditary coproporphyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_182050 MYH9-related disease 'MYH9-related disease' SubClassOf 'Primary glomerular disease' 'MYH9-related disease' SubClassOf 'Genetic glomerular disease' http://www.orpha.net/ORDO/Orphanet_206580 Autosomal recessive lower motor neuron disease with childhood onset 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'Generalized bulbospinal muscular atrophy' 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206583 Adult polyglucosan body disease 'Adult polyglucosan body disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Adult polyglucosan body disease' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Adult polyglucosan body disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231556 Late-onset localized junctional epidermolysis bullosa - intellectual disability 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'Junctional epidermolysis bullosa' 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'inherited epidermolysis bullosa' 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'Genetic epidermal disorder' 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_206599 Isolated asymptomatic elevation of creatine phosphokinase 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'Qualitative or quantitative defects of caveolin-3' 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'Combined T and B cell immunodeficiency' 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'autosomal recessive disease' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'autosomal recessive disease' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800086 http://www.orpha.net/ORDO/Orphanet_169082 Combined immunodeficiency due to CD3gamma deficiency 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004037 retinal edema 'retinal edema' SubClassOf 'retinopathy' 'retinal edema' SubClassOf 'retinopathy' http://www.orpha.net/ORDO/Orphanet_314689 Combined immunodeficiency due to STK4 deficiency 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency due to STK4 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'syndromic intellectual disability' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018683 acquired ichthyosis 'acquired ichthyosis' SubClassOf 'ichthyosis' 'acquired ichthyosis' SubClassOf 'ichthyosis' http://www.orpha.net/ORDO/Orphanet_314697 Acquired porencephaly 'Acquired porencephaly' SubClassOf 'Porencephaly' 'Acquired porencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231568 Generalized dominant dystrophic epidermolysis bullosa 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'syndromic intellectual disability' 'Cornelia de Lange syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016030 Evans syndrome 'Evans syndrome' SubClassOf 'Anemia, Hemolytic, Autoimmune' 'Evans syndrome' SubClassOf 'autoimmune thrombocytopenia' 'Evans syndrome' SubClassOf 'Anemia, Hemolytic, Autoimmune' 'Evans syndrome' SubClassOf 'autoimmune thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'Overgrowth syndrome' 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004710 pelvic organ prolapse 'pelvic organ prolapse' SubClassOf 'reproductive system disease' 'pelvic organ prolapse' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0004718 vascular dementia 'vascular dementia' SubClassOf 'dementia' 'vascular dementia' SubClassOf 'dementia' http://www.ebi.ac.uk/efo/EFO_0004719 pemphigus vulgaris 'pemphigus vulgaris' SubClassOf 'pemphigus' 'pemphigus vulgaris' SubClassOf 'pemphigus' http://purl.obolibrary.org/obo/MONDO_0016047 endophthalmitis 'endophthalmitis' SubClassOf 'inflammatory disease' 'endophthalmitis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_314679 Cerebro-facio-articular syndrome 'Cerebro-facio-articular syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cerebro-facio-articular syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_0004707 infantile hypertrophic pyloric stenosis 'infantile hypertrophic pyloric stenosis' SubClassOf 'pyloric stenosis' 'infantile hypertrophic pyloric stenosis' SubClassOf 'pyloric stenosis' http://www.ebi.ac.uk/efo/EFO_0004705 hypothyroidism 'hypothyroidism' SubClassOf 'thyroid disease' 'hypothyroidism' SubClassOf 'thyroid disease' http://www.orpha.net/ORDO/Orphanet_169100 Immunodeficiency due to CD25 deficiency 'Immunodeficiency due to CD25 deficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Immunodeficiency due to CD25 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004610 acute lung injury 'acute lung injury' SubClassOf 'lung disease' 'acute lung injury' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/MONDO_0016068 fibrochondrogenesis 'fibrochondrogenesis' SubClassOf 'genetic disorder' 'fibrochondrogenesis' SubClassOf 'osteochondrodysplasia' 'fibrochondrogenesis' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0016064 cleft palate 'cleft palate' SubClassOf 'orofacial cleft' 'cleft palate' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0016065 cleft palate-short stature-vertebral anomalies syndrome 'cleft palate-short stature-vertebral anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'cleft palate-short stature-vertebral anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004607 duodenal ulcer 'duodenal ulcer' SubClassOf 'duodenal disorder' 'duodenal ulcer' SubClassOf 'duodenal disorder' http://purl.obolibrary.org/obo/MONDO_0016075 filariasis 'filariasis' SubClassOf 'Helminthiasis' 'filariasis' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'neurometabolic disease' 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0016085 Cole-Carpenter syndrome 'Cole-Carpenter syndrome' SubClassOf 'primary bone dysplasia' 'Cole-Carpenter syndrome' SubClassOf 'primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_169110 Immunoglobulin heavy chain deficiency 'Immunoglobulin heavy chain deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Immunoglobulin heavy chain deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004625 progranulin measurement 'progranulin measurement' SubClassOf 'is_about' some 'Frontotemporal dementia' 'progranulin measurement' SubClassOf 'mental or behavioural disorder biomarker' 'progranulin measurement' SubClassOf 'measurement' http://www.orpha.net/ORDO/Orphanet_206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'Duchenne and Becker muscular dystrophy' 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206549 Autosomal recessive limb-girdle muscular dystrophy type 2L 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206554 Autosomal recessive limb-girdle muscular dystrophy type 2M 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91 Aromatase deficiency 'Aromatase deficiency' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Aromatase deficiency' SubClassOf '46,XX disorder of sex development induced by fetoplacental androgens excess' 'Aromatase deficiency' SubClassOf 'Non-acquired premature ovarian failure' 'Aromatase deficiency' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Aromatase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0041052 postherpetic neuralgia 'postherpetic neuralgia' SubClassOf 'post-infectious neuralgia' 'postherpetic neuralgia' SubClassOf 'post-infectious neuralgia' http://www.orpha.net/ORDO/Orphanet_206559 Autosomal recessive limb-girdle muscular dystrophy type 2N 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93 Aspartylglucosaminuria 'Aspartylglucosaminuria' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Aspartylglucosaminuria' SubClassOf 'Oligosaccharidosis' 'Aspartylglucosaminuria' SubClassOf 'Neurometabolic disease' 'Aspartylglucosaminuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96 Ataxia with vitamin E deficiency 'Ataxia with vitamin E deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Ataxia with vitamin E deficiency' SubClassOf 'Neurometabolic disease' 'Ataxia with vitamin E deficiency' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Ataxia with vitamin E deficiency' SubClassOf 'Rare hereditary ataxia' 'Ataxia with vitamin E deficiency' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Ataxia with vitamin E deficiency' SubClassOf 'Early-onset ataxia with dementia' 'Ataxia with vitamin E deficiency' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' http://www.orpha.net/ORDO/Orphanet_97 Familial paroxysmal ataxia 'Familial paroxysmal ataxia' SubClassOf 'Hereditary episodic ataxia' 'Familial paroxysmal ataxia' SubClassOf 'Rare hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'Autosomal recessive spastic ataxia' 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'Rare hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_99 Autosomal dominant cerebellar ataxia 'Autosomal dominant cerebellar ataxia' SubClassOf 'Late-onset ataxia with dementia' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Rare hereditary ataxia' 'Autosomal dominant cerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206564 Autosomal recessive limb-girdle muscular dystrophy type 2O 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79305 Progressive familial intrahepatic cholestasis type 3 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79304 Progressive familial intrahepatic cholestasis type 2 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79306 Progressive familial intrahepatic cholestasis type 1 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363649 Mandibular hypoplasia-deafness-progeroid syndrome 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'progeroid syndrome' 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'Syndromic genetic deafness' 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363665 Acroosteolysis-keloid-like lesions-premature aging syndrome 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'progeroid syndrome' 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004683 wet macular degeneration 'wet macular degeneration' SubClassOf 'age-related macular degeneration' 'wet macular degeneration' SubClassOf 'age-related macular degeneration' http://www.orpha.net/ORDO/Orphanet_363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'Myopathy with eye involvement' 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'Inclusion myopathy' 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Genetic renal tubular disease' 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79344 Autosomal dominant chondrodysplasia punctata 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'Autosomal dominant chondrodysplasia punctata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79347 Chondrodysplasia punctata, Toriello type 'Chondrodysplasia punctata, Toriello type' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'Chondrodysplasia punctata, Toriello type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79346 Chondrodysplasia punctata, tibial-metacarpal type 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79322 DPM1-CDG 'DPM1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'DPM1-CDG' SubClassOf 'inborn errors of metabolism' 'DPM1-CDG' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'DPM1-CDG' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) http://www.orpha.net/ORDO/Orphanet_79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79311 Vitamin B12-responsive methylmalonic acidemia type cblB 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'Rare genetic renal disease' 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'Methylmalonic acidemia without homocystinuria' http://www.orpha.net/ORDO/Orphanet_79310 Vitamin B12-responsive methylmalonic acidemia type cblA 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'Rare genetic renal disease' 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'Methylmalonic acidemia without homocystinuria' http://www.orpha.net/ORDO/Orphanet_289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'Childhood-onset epilepsy syndrome' 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000862 cervix erosion 'cervix erosion' SubClassOf 'cervix disorder' 'cervix erosion' SubClassOf 'cervix disorder' http://www.ebi.ac.uk/efo/EFO_1000860 cerebral atherosclerosis 'cerebral atherosclerosis' SubClassOf 'atherosclerosis' 'cerebral atherosclerosis' SubClassOf 'atherosclerosis' http://www.ebi.ac.uk/efo/EFO_1000868 chronic inflammatory demyelinating polyradiculoneuropathy 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'demyelinating polyneuropathy' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'polyradiculoneuropathy' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'demyelinating polyneuropathy' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'polyradiculoneuropathy' http://www.orpha.net/ORDO/Orphanet_314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'Congenital intestinal motility disorder' 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'perinatal disease' 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000874 commensal Clostridium infectious disease 'commensal Clostridium infectious disease' SubClassOf 'anaerobic bacteria infectious disease' 'commensal Clostridium infectious disease' SubClassOf 'gram-positive bacterial infections' 'commensal Clostridium infectious disease' SubClassOf 'anaerobic bacteria infectious disease' 'commensal Clostridium infectious disease' SubClassOf 'gram-positive bacterial infections' http://www.ebi.ac.uk/efo/EFO_1000879 corneal edema 'corneal edema' SubClassOf 'corneal disease' 'corneal edema' SubClassOf 'corneal disease' http://www.ebi.ac.uk/efo/EFO_1000878 constrictive pericarditis 'constrictive pericarditis' SubClassOf 'pericarditis' 'constrictive pericarditis' SubClassOf 'pericarditis' http://www.ebi.ac.uk/efo/EFO_1000876 common bile duct neoplasm 'common bile duct neoplasm' SubClassOf 'extrahepatic bile duct neoplasm' 'common bile duct neoplasm' SubClassOf 'extrahepatic bile duct neoplasm' http://www.ebi.ac.uk/efo/EFO_1000884 cranial nerve malignant neoplasm 'cranial nerve malignant neoplasm' SubClassOf 'cranial nerve neoplasm' 'cranial nerve malignant neoplasm' SubClassOf 'cranial nerve neoplasm' http://www.ebi.ac.uk/efo/EFO_1000882 coronary stenosis 'coronary stenosis' SubClassOf 'coronary artery disease' 'coronary stenosis' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_1000883 coronary thrombosis 'coronary thrombosis' SubClassOf 'thrombotic disease' 'coronary thrombosis' SubClassOf 'coronary artery disease' 'coronary thrombosis' SubClassOf 'thrombotic disease' 'coronary thrombosis' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_1000881 coronary aneurysm 'coronary aneurysm' SubClassOf 'coronary artery disease' 'coronary aneurysm' SubClassOf 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0018543 autosomal dominant hypocalcemia 'autosomal dominant hypocalcemia' SubClassOf 'calcium metabolic disease' 'autosomal dominant hypocalcemia' SubClassOf 'calcium metabolic disease' http://purl.obolibrary.org/obo/MONDO_0018540 PFAPA syndrome 'PFAPA syndrome' SubClassOf 'autoinflammatory syndrome' 'PFAPA syndrome' SubClassOf 'autoinflammatory syndrome' http://www.ebi.ac.uk/efo/EFO_1000893 denture stomatitis 'denture stomatitis' SubClassOf 'stomatitis' 'denture stomatitis' SubClassOf 'stomatitis' http://www.ebi.ac.uk/efo/EFO_1000892 dental fluorosis 'dental fluorosis' SubClassOf 'tooth disease' 'dental fluorosis' SubClassOf 'tooth disease' http://www.ebi.ac.uk/efo/EFO_1000890 Dandy-Walker syndrome 'Dandy-Walker syndrome' SubClassOf 'cerebellar disorder' 'Dandy-Walker syndrome' SubClassOf 'cystic malformation of the posterior fossa' 'Dandy-Walker syndrome' SubClassOf 'cerebellar disorder' 'Dandy-Walker syndrome' SubClassOf 'cystic malformation of the posterior fossa' http://www.ebi.ac.uk/efo/EFO_1000898 diaphragmatic eventration 'diaphragmatic eventration' SubClassOf 'diaphragm disease' 'diaphragmatic eventration' SubClassOf 'diaphragm disease' http://purl.obolibrary.org/obo/MONDO_0018555 hypogonadotropic hypogonadism 'hypogonadotropic hypogonadism' SubClassOf 'hypogonadism' 'hypogonadotropic hypogonadism' SubClassOf 'hypogonadism' http://www.orpha.net/ORDO/Orphanet_228277 Familial anetoderma 'Familial anetoderma' SubClassOf 'Genetic dermis elastic tissue disorder' 'Familial anetoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0043544 nosocomial infection 'nosocomial infection' SubClassOf 'infectious disease' 'nosocomial infection' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0006596 photoallergic dermatitis 'photoallergic dermatitis' SubClassOf 'photosensitivity disease' 'photoallergic dermatitis' SubClassOf 'photosensitivity disease' http://purl.obolibrary.org/obo/MONDO_0043543 iatrogenic disease 'iatrogenic disease' SubClassOf 'disease' 'iatrogenic disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_169464 Primary CD59 deficiency 'Primary CD59 deficiency' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Primary CD59 deficiency' SubClassOf 'Genetic peripheral neuropathy' 'Primary CD59 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169467 Recurrent Neisseria infections due to factor D deficiency 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0043579 enteritis 'enteritis' SubClassOf 'small intestine disorder' 'enteritis' SubClassOf 'small intestine disorder' http://www.ebi.ac.uk/efo/EFO_0004992 Otitis media 'Otitis media' SubClassOf 'inflammatory disease' 'Otitis media' SubClassOf 'middle ear disorder' 'Otitis media' SubClassOf 'inflammatory disease' 'Otitis media' SubClassOf 'middle ear disorder' http://www.orpha.net/ORDO/Orphanet_363396 High myopia-sensorineural deafness syndrome 'High myopia-sensorineural deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'High myopia-sensorineural deafness syndrome' SubClassOf 'Syndromic myopia' 'High myopia-sensorineural deafness syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004994 lumbar disc degeneration 'lumbar disc degeneration' SubClassOf 'vertebral column disorder' 'lumbar disc degeneration' SubClassOf 'vertebral column disorder' http://www.ebi.ac.uk/efo/EFO_1000802 alcoholic liver cirrhosis 'alcoholic liver cirrhosis' SubClassOf 'cirrhosis of liver' 'alcoholic liver cirrhosis' SubClassOf 'cirrhosis of liver' http://www.ebi.ac.uk/efo/EFO_1000800 alcohol withdrawal delirium 'alcohol withdrawal delirium' SubClassOf 'alcohol withdrawal' 'alcohol withdrawal delirium' SubClassOf 'alcohol withdrawal' http://www.ebi.ac.uk/efo/EFO_1000801 alcoholic cardiomyopathy 'alcoholic cardiomyopathy' SubClassOf 'extrinsic cardiomyopathy' 'alcoholic cardiomyopathy' SubClassOf 'extrinsic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1000808 anterior compartment syndrome 'anterior compartment syndrome' SubClassOf 'compartment syndrome' 'anterior compartment syndrome' SubClassOf 'compartment syndrome' http://www.ebi.ac.uk/efo/EFO_1000809 anterior ischemic optic neuropathy 'anterior ischemic optic neuropathy' SubClassOf 'optic nerve disorder' 'anterior ischemic optic neuropathy' SubClassOf 'optic nerve disorder' http://www.ebi.ac.uk/efo/EFO_1000816 aortitis 'aortitis' SubClassOf 'aortic disease' 'aortitis' SubClassOf 'aortic disease' http://www.ebi.ac.uk/efo/EFO_1000813 anthracosilicosis 'anthracosilicosis' SubClassOf 'pneumoconiosis' 'anthracosilicosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_1000814 anthracosis 'anthracosis' SubClassOf 'pneumoconiosis' 'anthracosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_1000811 anterior uveitis 'anterior uveitis' SubClassOf 'uveitis' 'anterior uveitis' SubClassOf 'uveitis' http://www.ebi.ac.uk/efo/EFO_1000818 arcus senilis 'arcus senilis' SubClassOf 'corneal degeneration' 'arcus senilis' SubClassOf 'corneal degeneration' http://www.ebi.ac.uk/efo/EFO_1000826 atrophic gastritis 'atrophic gastritis' SubClassOf 'chronic gastritis' 'atrophic gastritis' SubClassOf 'chronic gastritis' http://www.ebi.ac.uk/efo/EFO_1000827 atrophy of thyroid 'atrophy of thyroid' SubClassOf 'thyroid disease' 'atrophy of thyroid' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect 'atrial heart septal defect' SubClassOf 'heart septal defect' 'atrial heart septal defect' SubClassOf 'heart septal defect' http://www.orpha.net/ORDO/Orphanet_55654 Hypotrichosis simplex 'Hypotrichosis simplex' SubClassOf 'Alopecia' 'Hypotrichosis simplex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000822 ascorbic acid deficiency 'ascorbic acid deficiency' SubClassOf 'nutritional deficiency disease' 'ascorbic acid deficiency' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_1000823 aseptic meningitis 'aseptic meningitis' SubClassOf 'meningitis' 'aseptic meningitis' SubClassOf 'infectious meningitis' 'aseptic meningitis' SubClassOf 'meningitis' http://www.ebi.ac.uk/efo/EFO_1000828 B- and T-cell mixed leukemia 'B- and T-cell mixed leukemia' SubClassOf 'inherited acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1000829 bacterial conjunctivitis 'bacterial conjunctivitis' SubClassOf 'bacterial disease' 'bacterial conjunctivitis' SubClassOf 'conjunctivitis' 'bacterial conjunctivitis' SubClassOf 'bacterial disease' 'bacterial conjunctivitis' SubClassOf 'conjunctivitis' http://www.orpha.net/ORDO/Orphanet_399380 Osteonecrosis of genetic origin 'Osteonecrosis of genetic origin' SubClassOf 'Rare genetic bone disease' 'Osteonecrosis of genetic origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000837 beriberi 'beriberi' SubClassOf 'vitamin B deficiency' 'beriberi' SubClassOf 'vitamin B deficiency' http://www.ebi.ac.uk/efo/EFO_1000833 balanitis 'balanitis' SubClassOf 'inflammatory disease' 'balanitis' SubClassOf 'penile disorder' 'balanitis' SubClassOf 'inflammatory disease' 'balanitis' SubClassOf 'penile disorder' http://www.ebi.ac.uk/efo/EFO_1000831 bacterial meningitis 'bacterial meningitis' SubClassOf 'meningitis' 'bacterial meningitis' SubClassOf 'infectious meningitis' 'bacterial meningitis' SubClassOf 'infectious meningitis' http://www.ebi.ac.uk/efo/EFO_1000832 Bacteroides infectious disease 'Bacteroides infectious disease' SubClassOf 'anaerobic bacteria infectious disease' 'Bacteroides infectious disease' SubClassOf 'anaerobic bacteria infectious disease' http://www.orpha.net/ORDO/Orphanet_399388 Avascular necrosis of genetic origin 'Avascular necrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' 'Avascular necrosis of genetic origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000839 bladder calculus 'bladder calculus' SubClassOf 'bladder disease' 'bladder calculus' SubClassOf 'lower urinary tract calculus' 'bladder calculus' SubClassOf 'bladder disease' 'bladder calculus' SubClassOf 'lower urinary tract calculus' http://www.orpha.net/ORDO/Orphanet_169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'inborn errors of immunity' http://www.ebi.ac.uk/efo/EFO_0002370 SW756 'SW756' SubClassOf 'cervical cancer cell line' http://www.ebi.ac.uk/efo/EFO_1000840 bladder neck obstruction 'bladder neck obstruction' SubClassOf 'bladder disease' 'bladder neck obstruction' SubClassOf 'bladder disease' http://www.ebi.ac.uk/efo/EFO_1000841 blue nevus 'blue nevus' SubClassOf 'melanocytic nevus' 'blue nevus' SubClassOf 'melanocytic nevus' http://www.ebi.ac.uk/efo/EFO_0002379 SiHa 'SiHa' SubClassOf 'cervical cancer cell line' http://www.orpha.net/ORDO/Orphanet_169446 Autosomal recessive hyper-IgE syndrome 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'Hyper-IgE syndrome' 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'immunodeficiency disease' http://www.ebi.ac.uk/efo/EFO_1000849 bronchial neoplasm 'bronchial neoplasm' SubClassOf 'bronchial disease' 'bronchial neoplasm' SubClassOf 'bronchial disease' http://www.ebi.ac.uk/efo/EFO_1000844 brachial plexus neuropathy 'brachial plexus neuropathy' SubClassOf 'nerve plexus disease' 'brachial plexus neuropathy' SubClassOf 'nerve plexus disease' http://www.ebi.ac.uk/efo/EFO_1000845 brain edema 'brain edema' SubClassOf 'brain disease' 'brain edema' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1000843 brachial plexus neuritis 'brachial plexus neuritis' SubClassOf 'brachial plexus neuropathy' 'brachial plexus neuritis' SubClassOf 'neuritis' 'brachial plexus neuritis' SubClassOf 'brachial plexus neuropathy' 'brachial plexus neuritis' SubClassOf 'neuritis' http://www.orpha.net/ORDO/Orphanet_314381 Hereditary sensory and autonomic neuropathy type 6 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314399 Autosomal dominant aplasia and myelodysplasia 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'Rare constitutional medullar aplasia' 'Autosomal dominant aplasia and myelodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000850 burning mouth syndrome 'burning mouth syndrome' SubClassOf 'mouth disease' 'burning mouth syndrome' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_1000855 central core myopathy 'central core myopathy' SubClassOf 'Congenital myopathy' 'central core myopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.ebi.ac.uk/efo/EFO_1000853 carotid artery thrombosis 'carotid artery thrombosis' SubClassOf 'carotid artery disease' 'carotid artery thrombosis' SubClassOf 'carotid artery disease' http://www.ebi.ac.uk/efo/EFO_1000854 causalgia 'causalgia' SubClassOf 'complex regional pain syndrome' 'causalgia' SubClassOf 'complex regional pain syndrome' http://www.orpha.net/ORDO/Orphanet_314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'Slender bone dysplasia' 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79651 Mild hyperphenylalaninemia 'Mild hyperphenylalaninemia' SubClassOf 'Phenylketonuria' 'Mild hyperphenylalaninemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363314 Genetic intestinal polyposis 'Genetic intestinal polyposis' SubClassOf 'Genetic intestinal disease' 'Genetic intestinal polyposis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-resistant diffuse hyperinsulinism' 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-resistant diffuse hyperinsulinism' 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289176 Autosomal recessive hypophosphatemic rickets 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'Hypophosphatemic rickets' 'Autosomal recessive hypophosphatemic rickets' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314404 Autosomal dominant cerebellar ataxia, deafness and narcolepsy 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'Syndromic genetic deafness' 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79499 Autosomal dominant deafness-onychodystrophy syndrome 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf 'Deafness-onychodystrophy syndrome' 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf 'Rare genetic skin disease' 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf 'Syndromic genetic deafness' 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_228190 Patent ductus arteriosus - bicuspid aortic valve - hand anomalies 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'Heart-hand syndrome' 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_79492 Pili gemini 'Pili gemini' SubClassOf 'Isolated hair shaft abnormality' 'Pili gemini' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79484 Phakomatosis cesiomarmorata 'Phakomatosis cesiomarmorata' SubClassOf 'Phakomatosis pigmentovascularis' 'Phakomatosis cesiomarmorata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79483 Phakomatosis cesioflammea 'Phakomatosis cesioflammea' SubClassOf 'Phakomatosis pigmentovascularis' 'Phakomatosis cesioflammea' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79485 Phakomatosis spilorosea 'Phakomatosis spilorosea' SubClassOf 'Phakomatosis pigmentovascularis' 'Phakomatosis spilorosea' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289157 Hypocalcemic vitamin D-dependent rickets 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'Hypocalcemic rickets' 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'vitamin metabolic disorder' 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'participates_in' some ('vitamin metabolic process' and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_79474 Atypical Werner syndrome 'Atypical Werner syndrome' SubClassOf 'progeroid syndrome' 'Atypical Werner syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280763 Severe intellectual disability and progressive spastic paraplegia 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_289103 Hypocalcemic rickets 'Hypocalcemic rickets' SubClassOf 'Disorders of vitamin D metabolism' 'Hypocalcemic rickets' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363400 Severe neurodegenerative syndrome with lipodystrophy 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Genetic neurodegenerative disease' 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Genetic lipodystrophy' 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314485 Young adult-onset distal hereditary motor neuropathy 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' 'Young adult-onset distal hereditary motor neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000981 ileal neoplasm 'ileal neoplasm' SubClassOf 'small intestine neoplasm' 'ileal neoplasm' SubClassOf 'small intestine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000982 inappropriate ADH syndrome 'inappropriate ADH syndrome' SubClassOf 'pituitary gland disease' 'inappropriate ADH syndrome' SubClassOf 'pituitary gland disease' http://www.ebi.ac.uk/efo/EFO_1000987 intestinal perforation 'intestinal perforation' SubClassOf 'intestinal disease' 'intestinal perforation' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_1000986 intermediate uveitis 'intermediate uveitis' SubClassOf 'uveitis' 'intermediate uveitis' SubClassOf 'uveitis' http://www.ebi.ac.uk/efo/EFO_1000995 intradermal nevus 'intradermal nevus' SubClassOf 'melanocytic nevus' 'intradermal nevus' SubClassOf 'melanocytic nevus' http://www.ebi.ac.uk/efo/EFO_1000991 intracranial embolism 'intracranial embolism' SubClassOf 'cerebrovascular disorder' 'intracranial embolism' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1000998 jejunal cancer 'jejunal cancer' SubClassOf 'jejunal neoplasm' 'jejunal cancer' SubClassOf 'jejunal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000997 iritis 'iritis' SubClassOf 'iris disorder' 'iritis' SubClassOf 'iris disorder' http://www.orpha.net/ORDO/Orphanet_399391 Osteochondrosis of genetic origin 'Osteochondrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' 'Osteochondrosis of genetic origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004912 serum IgA measurement 'serum IgA measurement' SubClassOf ('is_about' some 'multiple myeloma') or ('is_about' some 'Primary systemic amyloidosis') http://purl.obolibrary.org/obo/MONDO_0018428 9q31.1q31.3 microdeletion syndrome '9q31.1q31.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_228140 Idiopathic ventricular fibrillation, not Brugada type 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'Genetic cardiac rhythm disease' 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'Rare genetic cardiac disease' http://purl.obolibrary.org/obo/MONDO_0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'syndromic intellectual disability' 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia 'familial hypocalciuric hypercalcemia' SubClassOf 'hypercalcemia disease' 'familial hypocalciuric hypercalcemia' SubClassOf 'hypercalcemia disease' http://purl.obolibrary.org/obo/MONDO_0018453 familial atypical multiple mole melanoma syndrome 'familial atypical multiple mole melanoma syndrome' SubClassOf 'inherited skin tumor' 'familial atypical multiple mole melanoma syndrome' SubClassOf 'inherited skin tumor' http://www.orpha.net/ORDO/Orphanet_228184 Heart-hand syndrome 'Heart-hand syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Heart-hand syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Heart-hand syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018479 congenital adrenal hyperplasia 'congenital adrenal hyperplasia' SubClassOf 'adrenogenital syndrome' 'congenital adrenal hyperplasia' SubClassOf 'adrenogenital syndrome' http://purl.obolibrary.org/obo/MONDO_0018473 hyperlipoproteinemia type 3 'hyperlipoproteinemia type 3' SubClassOf 'familial hyperlipidemia' 'hyperlipoproteinemia type 3' SubClassOf 'familial hyperlipidemia' http://www.orpha.net/ORDO/Orphanet_169349 Immuno-osseous dysplasia 'Immuno-osseous dysplasia' SubClassOf 'immunodeficiency disease' 'Immuno-osseous dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000903 drug-induced akathisia 'drug-induced akathisia' SubClassOf 'nervous system disease' 'drug-induced akathisia' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000904 drug-Induced dyskinesia 'drug-Induced dyskinesia' SubClassOf 'nervous system disease' 'drug-Induced dyskinesia' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000907 duodenal benign neoplasm 'duodenal benign neoplasm' SubClassOf 'benign neoplasm of small intestine' 'duodenal benign neoplasm' SubClassOf 'tumor of duodenum' 'duodenal benign neoplasm' SubClassOf 'benign neoplasm of small intestine' 'duodenal benign neoplasm' SubClassOf 'tumor of duodenum' http://www.ebi.ac.uk/efo/EFO_1000906 dry eye syndrome 'dry eye syndrome' SubClassOf 'keratoconjunctivitis' 'dry eye syndrome' SubClassOf 'keratoconjunctivitis' http://www.ebi.ac.uk/efo/EFO_1000915 encephalomalacia 'encephalomalacia' SubClassOf 'brain disease' 'encephalomalacia' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1000910 dysplasia of cervix 'dysplasia of cervix' SubClassOf 'reproductive system disease' 'dysplasia of cervix' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1000919 endometrial stromal sarcoma 'endometrial stromal sarcoma' SubClassOf 'endometrial stromal tumor' 'endometrial stromal sarcoma' SubClassOf 'sarcoma' 'endometrial stromal sarcoma' SubClassOf 'endometrial stromal tumor' 'endometrial stromal sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_1000916 endemic goiter 'endemic goiter' SubClassOf 'goiter' 'endemic goiter' SubClassOf 'goiter' http://www.ebi.ac.uk/efo/EFO_1000917 endocrine tuberculosis 'endocrine tuberculosis' SubClassOf 'Tuberculosis' http://www.orpha.net/ORDO/Orphanet_172976 Congenital myopathy with cores 'Congenital myopathy with cores' SubClassOf 'Congenital myopathy' 'Congenital myopathy with cores' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169361 Immune dysregulation disease with immunodeficiency 'Immune dysregulation disease with immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Immune dysregulation disease with immunodeficiency' SubClassOf 'inborn errors of immunity' http://www.ebi.ac.uk/efo/EFO_1000924 epilepsia partialis continua 'epilepsia partialis continua' SubClassOf 'epilepsy' 'epilepsia partialis continua' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_1000920 endometrial stromal tumor 'endometrial stromal tumor' SubClassOf 'endometrium neoplasm' 'endometrial stromal tumor' SubClassOf 'endometrium neoplasm' http://www.ebi.ac.uk/efo/EFO_1000929 Escherichia coli meningitis 'Escherichia coli meningitis' SubClassOf 'bacterial meningitis' 'Escherichia coli meningitis' SubClassOf 'bacterial meningitis' http://www.ebi.ac.uk/efo/EFO_1000937 fetal erythroblastosis 'fetal erythroblastosis' SubClassOf 'microcytic anemia' 'fetal erythroblastosis' SubClassOf 'microcytic anemia' http://www.ebi.ac.uk/efo/EFO_1000934 eyelid neoplasm 'eyelid neoplasm' SubClassOf 'eyelid disease' 'eyelid neoplasm' SubClassOf 'eye neoplasm' 'eyelid neoplasm' SubClassOf 'eyelid disease' 'eyelid neoplasm' SubClassOf 'eye neoplasm' http://www.ebi.ac.uk/efo/EFO_1000935 female genital tuberculosis 'female genital tuberculosis' SubClassOf 'reproductive system disease' 'female genital tuberculosis' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1000932 extracutaneous mastocytoma 'extracutaneous mastocytoma' SubClassOf 'mastocytoma' 'extracutaneous mastocytoma' SubClassOf 'mastocytoma' http://www.ebi.ac.uk/efo/EFO_1000933 extrahepatic cholestasis 'extrahepatic cholestasis' SubClassOf 'cholestasis' 'extrahepatic cholestasis' SubClassOf 'cholestasis' http://www.ebi.ac.uk/efo/EFO_1000931 euthyroid sick syndrome 'euthyroid sick syndrome' SubClassOf 'thyroid disease' 'euthyroid sick syndrome' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_0004893 testicular dysgenesis syndrome 'testicular dysgenesis syndrome' SubClassOf 'gonadal dysgenesis' 'testicular dysgenesis syndrome' SubClassOf 'testicular disease' 'testicular dysgenesis syndrome' SubClassOf 'gonadal dysgenesis' 'testicular dysgenesis syndrome' SubClassOf 'testicular disease' http://www.ebi.ac.uk/efo/EFO_0004895 Tourette syndrome 'Tourette syndrome' SubClassOf 'movement disorder' 'Tourette syndrome' SubClassOf 'tic disorder' 'Tourette syndrome' SubClassOf 'movement disorder' 'Tourette syndrome' SubClassOf 'tic disorder' http://www.orpha.net/ORDO/Orphanet_79503 Ichthyosis hystrix of Curth-Macklin 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'Keratinopathic ichthyosis' 'Ichthyosis hystrix of Curth-Macklin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000948 gastroparesis 'gastroparesis' SubClassOf 'functional gastric disease' 'gastroparesis' SubClassOf 'functional gastric disease' http://www.orpha.net/ORDO/Orphanet_79502 Punctate palmoplantar keratoderma type 2 'Punctate palmoplantar keratoderma type 2' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Punctate palmoplantar keratoderma type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000946 gastric mucosal hypertrophy 'gastric mucosal hypertrophy' SubClassOf 'gastritis' 'gastric mucosal hypertrophy' SubClassOf 'gastritis' http://www.orpha.net/ORDO/Orphanet_79504 Ichthyosis hystrix gravior 'Ichthyosis hystrix gravior' SubClassOf 'Keratinopathic ichthyosis' 'Ichthyosis hystrix gravior' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000943 Fusobacterium infectious disease 'Fusobacterium infectious disease' SubClassOf 'anaerobic bacteria infectious disease' 'Fusobacterium infectious disease' SubClassOf 'anaerobic bacteria infectious disease' http://www.orpha.net/ORDO/Orphanet_79501 Punctate palmoplantar keratoderma type 1 'Punctate palmoplantar keratoderma type 1' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Punctate palmoplantar keratoderma type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000942 fungal meningitis 'fungal meningitis' SubClassOf 'infectious meningitis' 'fungal meningitis' SubClassOf 'meningitis' 'fungal meningitis' SubClassOf 'infectious meningitis' http://www.orpha.net/ORDO/Orphanet_231720 Non-acquired combined pituitary hormone deficiency with spine abnormalities 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000951 glossitis 'glossitis' SubClassOf 'tongue disorder' 'glossitis' SubClassOf 'inflammatory disease' 'glossitis' SubClassOf 'tongue disorder' 'glossitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1000958 halo nevus 'halo nevus' SubClassOf 'melanocytic nevus' 'halo nevus' SubClassOf 'melanocytic nevus' http://www.ebi.ac.uk/efo/EFO_1000959 heart aneurysm 'heart aneurysm' SubClassOf 'heart disease' 'heart aneurysm' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_1000957 hairy tongue 'hairy tongue' SubClassOf 'tongue disorder' 'hairy tongue' SubClassOf 'tongue disorder' http://www.ebi.ac.uk/efo/EFO_1000955 Haemophilus influenzae meningitis 'Haemophilus influenzae meningitis' SubClassOf 'bacterial meningitis' 'Haemophilus influenzae meningitis' SubClassOf 'bacterial meningitis' http://www.ebi.ac.uk/efo/EFO_1000952 glycogen storage disease VIII 'glycogen storage disease VIII' SubClassOf 'Glycogen storage disease' 'glycogen storage disease VIII' SubClassOf 'Disorder of carbohydrate metabolism' http://www.ebi.ac.uk/efo/EFO_1000962 hemometra 'hemometra' SubClassOf 'uterine disorder' 'hemometra' SubClassOf 'uterine disorder' http://www.ebi.ac.uk/efo/EFO_1000968 hydrophthalmos 'hydrophthalmos' SubClassOf 'Congenital glaucoma' 'hydrophthalmos' SubClassOf 'Primary glaucoma' http://www.ebi.ac.uk/efo/EFO_1000966 hepatic vein thrombosis 'hepatic vein thrombosis' SubClassOf 'hepatic vascular disorder' 'hepatic vein thrombosis' SubClassOf 'hepatic vascular disorder' http://www.ebi.ac.uk/efo/EFO_1000963 hemopneumothorax 'hemopneumothorax' SubClassOf 'pneumothorax' 'hemopneumothorax' SubClassOf 'pneumothorax' http://www.ebi.ac.uk/efo/EFO_1000972 hyperglobulinemic purpura 'hyperglobulinemic purpura' SubClassOf 'skin disease' 'hyperglobulinemic purpura' SubClassOf 'purpura' 'hyperglobulinemic purpura' SubClassOf 'purpura' 'hyperglobulinemic purpura' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000970 hypercementosis 'hypercementosis' SubClassOf 'tooth hard tissue disease' 'hypercementosis' SubClassOf 'tooth hard tissue disease' http://www.ebi.ac.uk/efo/EFO_1000978 hypervitaminosis A 'hypervitaminosis A' SubClassOf 'overnutrition' 'hypervitaminosis A' SubClassOf 'overnutrition' http://www.ebi.ac.uk/efo/EFO_1000979 hypothalamic neoplasm 'hypothalamic neoplasm' SubClassOf 'hypothalamic disorder' 'hypothalamic neoplasm' SubClassOf 'hypothalamic disorder' http://www.ebi.ac.uk/efo/EFO_1000977 hypertensive retinopathy 'hypertensive retinopathy' SubClassOf 'retinopathy' 'hypertensive retinopathy' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1000974 hypersensitivity vasculitis 'hypersensitivity vasculitis' SubClassOf 'vasculitis' 'hypersensitivity vasculitis' SubClassOf 'vasculitis' http://www.ebi.ac.uk/efo/EFO_1000975 hypersplenism 'hypersplenism' SubClassOf 'splenic disease' 'hypersplenism' SubClassOf 'splenic disease' http://www.orpha.net/ORDO/Orphanet_363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'Leukodystrophy' 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'Congenital myopathy' 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0000411 visual cortex 'visual cortex' SubClassOf 'part_of' some 'occipital cortex' http://www.orpha.net/ORDO/Orphanet_363424 Hypotonia-cerebral atrophy-hyperglycinemia syndrome 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'Neurometabolic disease' 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_289098 Disorders of vitamin D metabolism 'Disorders of vitamin D metabolism' SubClassOf 'participates_in' some ('vitamin metabolic process' and ('has component' some 'abnormal')) 'Disorders of vitamin D metabolism' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Disorders of vitamin D metabolism' SubClassOf 'vitamin metabolic disorder' 'Disorders of vitamin D metabolism' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Disorders of vitamin D metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363417 Temtamy preaxial brachydactyly syndrome 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Syndrome with brachydactyly' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Rare hereditary ataxia' 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Early-onset ataxia with dementia' http://www.orpha.net/ORDO/Orphanet_363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79506 Cholesterol-ester transfer protein deficiency 'Cholesterol-ester transfer protein deficiency' SubClassOf 'Hyperalphalipoproteinemia' 'Cholesterol-ester transfer protein deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363454 Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206701 Bulbospinal muscular atrophy 'Bulbospinal muscular atrophy' SubClassOf 'Genetic motor neuron disease' 'Bulbospinal muscular atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206707 Bulbospinal muscular atrophy of adult 'Bulbospinal muscular atrophy of adult' SubClassOf 'Bulbospinal muscular atrophy' 'Bulbospinal muscular atrophy of adult' SubClassOf 'Genetic motor neuron disease' http://www.orpha.net/ORDO/Orphanet_206704 Bulbospinal muscular atrophy of children 'Bulbospinal muscular atrophy of children' SubClassOf 'Bulbospinal muscular atrophy' 'Bulbospinal muscular atrophy of children' SubClassOf 'Genetic motor neuron disease' http://www.orpha.net/ORDO/Orphanet_206710 Generalized bulbospinal muscular atrophy 'Generalized bulbospinal muscular atrophy' SubClassOf 'Bulbospinal muscular atrophy' 'Generalized bulbospinal muscular atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_55596 Autosomal dominant limb-girdle muscular dystrophy type 1G 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_55595 Autosomal dominant limb-girdle muscular dystrophy type 1F 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1702 Non-distal trisomy 13q 'Non-distal trisomy 13q' SubClassOf 'Partial duplication of the long arm of chromosome 13' 'Non-distal trisomy 13q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289483 Intellectual disability - alacrima - achalasia 'Intellectual disability - alacrima - achalasia' SubClassOf 'Congenital alacrima' 'Intellectual disability - alacrima - achalasia' SubClassOf 'Rare lacrimal system disease' http://www.orpha.net/ORDO/Orphanet_1711 Mosaic trisomy 17 'Mosaic trisomy 17' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 17' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324321 Sinoatrial node dysfunction and deafness 'Sinoatrial node dysfunction and deafness' SubClassOf 'Genetic cardiac rhythm disease' 'Sinoatrial node dysfunction and deafness' SubClassOf 'Syndromic genetic deafness' 'Sinoatrial node dysfunction and deafness' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1707 Distal trisomy 15q 'Distal trisomy 15q' SubClassOf '15q overgrowth syndrome' 'Distal trisomy 15q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1708 Mosaic trisomy 16 'Mosaic trisomy 16' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 16' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289494 Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' SubClassOf 'Leukodystrophy' 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_1705 Distal trisomy 14q 'Distal trisomy 14q' SubClassOf 'Syndromic developmental defect of the eye' 'Distal trisomy 14q' SubClassOf 'Partial duplication of the long arm of chromosome 14' 'Distal trisomy 14q' SubClassOf 'Syndromic epicanthus' 'Distal trisomy 14q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300373 Familial infantile gigantism 'Familial infantile gigantism' SubClassOf 'Rare genetic hypothalamic or pituitary disease' 'Familial infantile gigantism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1706 Mosaic trisomy 15 'Mosaic trisomy 15' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 15' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1703 Mosaic trisomy 14 'Mosaic trisomy 14' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289499 Congenital cataract microcornea with corneal opacity 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Syndromic cataract' 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Rare cataract' http://purl.obolibrary.org/obo/MONDO_0008903 lung cancer 'lung cancer' SubClassOf 'thoracic cancer' 'lung cancer' SubClassOf 'respiratory system cancer' 'lung cancer' SubClassOf 'thoracic cancer' 'lung cancer' SubClassOf 'respiratory system cancer' http://www.orpha.net/ORDO/Orphanet_1723 Mosaic trisomy 2 'Mosaic trisomy 2' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1724 Mosaic trisomy 20 'Mosaic trisomy 20' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 20' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1716 Distal trisomy 18q 'Distal trisomy 18q' SubClassOf 'Partial trisomy of the long arm of chromosome 18' 'Distal trisomy 18q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1717 Distal trisomy 19q 'Distal trisomy 19q' SubClassOf 'Partial duplication of the long arm of chromosome 19' 'Distal trisomy 19q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1715 Trisomy 18p 'Trisomy 18p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 18' 'Trisomy 18p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363965 Koolen-De Vries syndrome due to a point mutation 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'Koolen-De Vries syndrome' 'Koolen-De Vries syndrome due to a point mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314993 Cataract-congenital heart disease-neural tube defect syndrome 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'Syndromic cataract' 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'Rare cataract' http://www.orpha.net/ORDO/Orphanet_1727 22q11.2 microduplication syndrome '22q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 22' '22q11.2 microduplication syndrome' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_324307 Severe lateral tibial bowing with short stature 'Severe lateral tibial bowing with short stature' SubClassOf 'Bent bone dysplasia' 'Severe lateral tibial bowing with short stature' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363958 17q21.31 microdeletion syndrome '17q21.31 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q21.31 microdeletion syndrome' SubClassOf 'Koolen-De Vries syndrome' '17q21.31 microdeletion syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' '17q21.31 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0008917 heart defects-limb shortening syndrome 'heart defects-limb shortening syndrome' SubClassOf 'congenital heart disease' 'heart defects-limb shortening syndrome' SubClassOf 'autosomal recessive disease' 'heart defects-limb shortening syndrome' SubClassOf 'congenital heart disease' 'heart defects-limb shortening syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_363969 Autosomal recessive cerebral atrophy 'Autosomal recessive cerebral atrophy' SubClassOf 'Genetic neurodegenerative disease' 'Autosomal recessive cerebral atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008934 cerebellar ataxia-ectodermal dysplasia syndrome 'cerebellar ataxia-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cerebellar ataxia-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008931 Cenani-Lenz syndactyly syndrome 'Cenani-Lenz syndactyly syndrome' SubClassOf 'genetic disorder' 'Cenani-Lenz syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis 'isolated cerebellar hypoplasia/agenesis' SubClassOf 'congenital nervous system disorder' 'isolated cerebellar hypoplasia/agenesis' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008948 cerebrotendinous xanthomatosis 'cerebrotendinous xanthomatosis' SubClassOf 'xanthomatosis' 'cerebrotendinous xanthomatosis' SubClassOf 'xanthomatosis' http://purl.obolibrary.org/obo/MONDO_0008947 bilateral striopallidodentate calcinosis 'bilateral striopallidodentate calcinosis' SubClassOf 'basal ganglia disease' 'bilateral striopallidodentate calcinosis' SubClassOf 'basal ganglia disease' http://purl.obolibrary.org/obo/MONDO_0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'genetic parenchymatous liver disease' 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'familial cystic renal disease' 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_70589 Bronchopulmonary dysplasia 'Bronchopulmonary dysplasia' SubClassOf 'bronchial disease' 'Bronchopulmonary dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_70595 Sensory ataxic neuropathy - dysarthria - ophthalmoparesis 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Ataxia neuropathy spectrum' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.orpha.net/ORDO/Orphanet_70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Dopa-responsive dystonia' 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Disorder of pterin metabolism' 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363989 Familial benign flecked retina 'Familial benign flecked retina' SubClassOf 'Retinal dystrophy' 'Familial benign flecked retina' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008959 CHAND syndrome 'CHAND syndrome' SubClassOf 'genetic disorder' 'CHAND syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008952 cerebrofaciothoracic dysplasia 'cerebrofaciothoracic dysplasia' SubClassOf 'syndromic intellectual disability' 'cerebrofaciothoracic dysplasia' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_300313 Congenital cataract-hearing loss-severe developmental delay syndrome 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'Syndromic cataract' 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'Neurometabolic disease' 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008963 Chediak-Higashi syndrome 'Chediak-Higashi syndrome' SubClassOf 'inherited neurodegenerative disorder' 'Chediak-Higashi syndrome' SubClassOf 'inherited neurodegenerative disorder' http://www.ebi.ac.uk/efo/EFO_1000620 Vaginal Squamous Cell Carcinoma 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0008961 Charcot-Marie-Tooth disease type 4A 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000627 thyroid disease 'thyroid disease' SubClassOf 'endocrine system disease' 'thyroid disease' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_1000624 Vulvar Squamous Cell Carcinoma 'Vulvar Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vulvar Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000625 Warthin Tumor 'Warthin Tumor' SubClassOf 'benign neoplasm of salivary gland' 'Warthin Tumor' SubClassOf 'benign neoplasm of salivary gland' http://purl.obolibrary.org/obo/MONDO_0008975 otospondylomegaepiphyseal dysplasia 'otospondylomegaepiphyseal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008974 Greenberg dysplasia 'Greenberg dysplasia' SubClassOf 'chondrodysplasia punctata' 'Greenberg dysplasia' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0008970 chondrodysplasia Blomstrand type 'chondrodysplasia Blomstrand type' SubClassOf 'genetic disorder' 'chondrodysplasia Blomstrand type' SubClassOf 'neonatal osteosclerotic dysplasia' 'chondrodysplasia Blomstrand type' SubClassOf 'neonatal osteosclerotic dysplasia' http://www.ebi.ac.uk/efo/EFO_1000633 adenomatous colon polyp 'adenomatous colon polyp' SubClassOf 'polyp of colon' 'adenomatous colon polyp' SubClassOf 'polyp of colon' http://purl.obolibrary.org/obo/MONDO_0008982 central areolar choroidal dystrophy 'central areolar choroidal dystrophy' SubClassOf 'optic choroid disorder' 'central areolar choroidal dystrophy' SubClassOf 'optic choroid disorder' http://www.ebi.ac.uk/efo/EFO_1000641 congenital nonspherocytic hemolytic anemia 'congenital nonspherocytic hemolytic anemia' SubClassOf 'Hemoglobinopathy' 'congenital nonspherocytic hemolytic anemia' SubClassOf 'Rare constitutional anemia' http://www.ebi.ac.uk/efo/EFO_0002610 cocaine dependence 'cocaine dependence' SubClassOf 'drug dependence' 'cocaine dependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_1000648 developmental dysplasia of the hip 'developmental dysplasia of the hip' SubClassOf 'bone development disease' 'developmental dysplasia of the hip' SubClassOf 'bone development disease' http://www.ebi.ac.uk/efo/EFO_1000649 estrogen-receptor positive breast cancer 'estrogen-receptor positive breast cancer' SubClassOf 'breast carcinoma' 'estrogen-receptor positive breast cancer' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://www.ebi.ac.uk/efo/EFO_1000644 newborn respiratory distress syndrome 'newborn respiratory distress syndrome' SubClassOf 'pediatric acute respiratory distress syndrome' 'newborn respiratory distress syndrome' SubClassOf 'pediatric acute respiratory distress syndrome' http://purl.obolibrary.org/obo/MONDO_0018305 chronic granulomatous disease 'chronic granulomatous disease' SubClassOf 'defective phagocytic cell engulfment' 'chronic granulomatous disease' SubClassOf 'inflammatory disease' 'chronic granulomatous disease' SubClassOf 'defective phagocytic cell engulfment' 'chronic granulomatous disease' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome 'Cohen syndrome' SubClassOf 'syndromic intellectual disability' 'Cohen syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008995 Yunis-Varon syndrome 'Yunis-Varon syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000652 acute pancreatitis 'acute pancreatitis' SubClassOf 'pancreatitis' 'acute pancreatitis' SubClassOf 'pancreatitis' http://www.orpha.net/ORDO/Orphanet_324381 Hereditary inclusion body myopathy type 4 'Hereditary inclusion body myopathy type 4' SubClassOf 'Inclusion myopathy' 'Hereditary inclusion body myopathy type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000650 estrogen-receptor negative breast cancer 'estrogen-receptor negative breast cancer' SubClassOf 'breast carcinoma' 'estrogen-receptor negative breast cancer' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://www.ebi.ac.uk/efo/EFO_1000657 rectum cancer 'rectum cancer' SubClassOf 'colorectal cancer' 'rectum cancer' SubClassOf 'rectal neoplasm' 'rectum cancer' SubClassOf 'colorectal cancer' 'rectum cancer' SubClassOf 'rectal neoplasm' http://www.ebi.ac.uk/efo/EFO_0002609 juvenile idiopathic arthritis 'juvenile idiopathic arthritis' SubClassOf 'arthritis' 'juvenile idiopathic arthritis' SubClassOf 'arthritis' http://www.ebi.ac.uk/efo/EFO_1000665 acrodermatitis chronica atrophicans 'acrodermatitis chronica atrophicans' SubClassOf 'acrodermatitis' 'acrodermatitis chronica atrophicans' SubClassOf 'acrodermatitis' http://www.ebi.ac.uk/efo/EFO_1000663 acquired keratosis 'acquired keratosis' SubClassOf 'keratosis' 'acquired keratosis' SubClassOf 'keratosis' http://www.ebi.ac.uk/efo/EFO_1000661 Achenbach syndrome 'Achenbach syndrome' SubClassOf 'skin disease' 'Achenbach syndrome' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000668 allergic contact dermatitis 'allergic contact dermatitis' SubClassOf 'contact dermatitis' 'allergic contact dermatitis' SubClassOf 'contact dermatitis' http://www.ebi.ac.uk/efo/EFO_1000669 allergic urticaria 'allergic urticaria' SubClassOf 'urticaria' 'allergic urticaria' SubClassOf 'urticaria' http://www.ebi.ac.uk/efo/EFO_1000666 acrokeratosis verruciformis 'acrokeratosis verruciformis' SubClassOf 'keratosis' 'acrokeratosis verruciformis' SubClassOf 'keratosis' http://www.ebi.ac.uk/efo/EFO_1000667 adiposis dolorosa 'adiposis dolorosa' SubClassOf 'lipomatosis' 'adiposis dolorosa' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_1000676 cholesteatoma of attic 'cholesteatoma of attic' SubClassOf 'cholesteatoma of middle ear' 'cholesteatoma of attic' SubClassOf 'cholesteatoma of middle ear' http://www.ebi.ac.uk/efo/EFO_1000670 anhidrosis 'anhidrosis' SubClassOf 'sweat gland disease' 'anhidrosis' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1000677 cholesteatoma of external ear 'cholesteatoma of external ear' SubClassOf 'cholesteatoma' 'cholesteatoma of external ear' SubClassOf 'external ear disease' 'cholesteatoma of external ear' SubClassOf 'cholesteatoma' 'cholesteatoma of external ear' SubClassOf 'external ear disease' http://www.orpha.net/ORDO/Orphanet_324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'Primary bone dysplasia with increased bone density' 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000678 cholesteatoma of middle ear 'cholesteatoma of middle ear' SubClassOf 'cholesteatoma' 'cholesteatoma of middle ear' SubClassOf 'middle ear disorder' 'cholesteatoma of middle ear' SubClassOf 'cholesteatoma' 'cholesteatoma of middle ear' SubClassOf 'middle ear disorder' http://www.ebi.ac.uk/efo/EFO_1000682 conjunctival pigmentation 'conjunctival pigmentation' SubClassOf 'conjunctival deposit' 'conjunctival pigmentation' SubClassOf 'conjunctival deposit' http://www.ebi.ac.uk/efo/EFO_1000680 mucous membrane pemphigoid 'mucous membrane pemphigoid' SubClassOf 'autoimmune bullous skin disease' 'mucous membrane pemphigoid' SubClassOf 'autoimmune bullous skin disease' http://www.orpha.net/ORDO/Orphanet_300382 Progeroid and marfanoid aspect-lipodystrophy syndrome 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324353 Congenital achiasma 'Congenital achiasma' SubClassOf 'Cranial nerve and nuclear aplasia' 'Congenital achiasma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018341 3q27.3 microdeletion syndrome '3q27.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '3q27.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000697 exanthem 'exanthem' SubClassOf 'skin disease' 'exanthem' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000695 erythematosquamous dermatosis 'erythematosquamous dermatosis' SubClassOf 'skin disease' 'erythematosquamous dermatosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000693 erythema infectiosum 'erythema infectiosum' SubClassOf 'viral disease' 'erythema infectiosum' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_1000694 erythema multiforme 'erythema multiforme' SubClassOf 'skin disease' 'erythema multiforme' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0018352 squamous cell carcinoma of penis 'squamous cell carcinoma of penis' SubClassOf 'squamous cell carcinoma' 'squamous cell carcinoma of penis' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0018364 malignant epithelial tumor of ovary 'malignant epithelial tumor of ovary' SubClassOf 'ovarian cancer' 'malignant epithelial tumor of ovary' SubClassOf 'ovarian epithelial tumor' 'malignant epithelial tumor of ovary' SubClassOf 'ovarian cancer' 'malignant epithelial tumor of ovary' SubClassOf 'ovarian epithelial tumor' http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis 'avascular necrosis' SubClassOf 'osteonecrosis' 'avascular necrosis' SubClassOf 'osteonecrosis' http://www.orpha.net/ORDO/Orphanet_228426 Syndromic multisystem autoimmune disease due to Itch deficiency 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Genetic intractable diarrhea of infancy' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Rare genetic respiratory disease' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'malabsorption syndrome' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228423 Monocytopenia with susceptibility to infections 'Monocytopenia with susceptibility to infections' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Monocytopenia with susceptibility to infections' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228429 Generalized congenital lipodystrophy with myopathy 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Genetic cardiac rhythm disease' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Genetic lipodystrophy' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Non-dystrophic myopathy' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Rare genetic cardiac disease' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Genetic subcutaneous tissue disorder' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_228410 Polyvalvular heart disease syndrome 'Polyvalvular heart disease syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Polyvalvular heart disease syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Polyvalvular heart disease syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Polyvalvular heart disease syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity 'Primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'inborn errors of immunity' 'Primary immunodeficiency due to a defect in adaptive immunity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000602 Transitional Meningioma 'Transitional Meningioma' SubClassOf 'Meningioma' 'Transitional Meningioma' SubClassOf 'meningeal neoplasm' 'Transitional Meningioma' SubClassOf 'has_disease_location' some 'meninx' http://www.ebi.ac.uk/efo/EFO_1000600 Tracheal Squamous Cell Carcinoma 'Tracheal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Tracheal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000609 Ureter Carcinoma 'Ureter Carcinoma' SubClassOf 'ureter cancer' 'Ureter Carcinoma' SubClassOf 'carcinoma' 'Ureter Carcinoma' SubClassOf 'ureter cancer' 'Ureter Carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0043364 eosinophil peroxidase deficiency 'eosinophil peroxidase deficiency' SubClassOf 'autosomal recessive disease' 'eosinophil peroxidase deficiency' SubClassOf 'leukocyte disorder' 'eosinophil peroxidase deficiency' SubClassOf 'autosomal recessive disease' 'eosinophil peroxidase deficiency' SubClassOf 'leukocyte disorder' http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma 'Uterine Carcinosarcoma' SubClassOf 'uterine cancer' 'Uterine Carcinosarcoma' SubClassOf 'uterine cancer' http://www.orpha.net/ORDO/Orphanet_1782 Dysosteosclerosis 'Dysosteosclerosis' SubClassOf 'Osteopetrosis' 'Dysosteosclerosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1787 Acrofacial dysostosis, Palagonia type 'Acrofacial dysostosis, Palagonia type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Palagonia type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Palagonia type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1788 Acrofacial dysostosis, Rodríguez type 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Syndrome with brachydactyly' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' http://www.orpha.net/ORDO/Orphanet_1786 Acrofacial dysostosis, Catania type 'Acrofacial dysostosis, Catania type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Acrofacial dysostosis, Catania type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrofacial dysostosis, Catania type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Catania type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Catania type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1784 Acro-fronto-facio-nasal dysostosis 'Acro-fronto-facio-nasal dysostosis' SubClassOf 'Acrofacial dysostosis' 'Acro-fronto-facio-nasal dysostosis' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Acro-fronto-facio-nasal dysostosis' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_1790 Hypomandibular faciocranial dysostosis 'Hypomandibular faciocranial dysostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Hypomandibular faciocranial dysostosis' SubClassOf 'Genetic cranial malformation' 'Hypomandibular faciocranial dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1791 Frontofacionasal dysplasia 'Frontofacionasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic palpebral coloboma' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic ankyloblepharon' 'Frontofacionasal dysplasia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Frontofacionasal dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Frontofacionasal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1798 Dysostosis, Stanescu type 'Dysostosis, Stanescu type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Dysostosis, Stanescu type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1797 Autosomal dominant spondylocostal dysostosis 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Autosomal dominant spondylocostal dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1794 Oculomaxillofacial dysostosis 'Oculomaxillofacial dysostosis' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Oculomaxillofacial dysostosis' SubClassOf 'Orofacial clefting syndrome' 'Oculomaxillofacial dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1795 Peripheral dysostosis 'Peripheral dysostosis' SubClassOf 'Acromelic dysplasia' 'Peripheral dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_399980 Rare genetic male infertility 'Rare genetic male infertility' SubClassOf 'Genetic infertility' 'Rare genetic male infertility' SubClassOf 'genetic disorder' 'Rare genetic male infertility' SubClassOf 'has_disease_location' some 'reproductive system' http://www.orpha.net/ORDO/Orphanet_1745 Distal trisomy 6p 'Distal trisomy 6p' SubClassOf 'Partial duplication of the short arm of chromosome 6' 'Distal trisomy 6p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1742 Trisomy 5p 'Trisomy 5p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' 'Trisomy 5p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1738 Trisomy 4p 'Trisomy 4p' SubClassOf 'Partial duplication of the short arm of chromosome 4' 'Trisomy 4p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1756 Caudal duplication 'Caudal duplication' SubClassOf 'Syndromic anorectal malformation' 'Caudal duplication' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69663 Low phospholipid associated cholelithiasis 'Low phospholipid associated cholelithiasis' SubClassOf 'Genetic biliary tract disease' 'Low phospholipid associated cholelithiasis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1752 Trisomy 8q 'Trisomy 8q' SubClassOf 'Partial duplication of the long arm of chromosome 8' 'Trisomy 8q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1747 Mosaic trisomy 7 'Mosaic trisomy 7' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1768 Familial caudal dysgenesis 'Familial caudal dysgenesis' SubClassOf 'Syndromic anorectal malformation' 'Familial caudal dysgenesis' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Familial caudal dysgenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1765 Dyschondrosteosis - nephritis 'Dyschondrosteosis - nephritis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Dyschondrosteosis - nephritis' SubClassOf 'Syndromic renal or urinary tract malformation' 'Dyschondrosteosis - nephritis' SubClassOf 'Primary bone dysplasia' 'Dyschondrosteosis - nephritis' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1766 Dysequilibrium syndrome 'Dysequilibrium syndrome' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'Dysequilibrium syndrome' SubClassOf 'Early-onset ataxia with dementia' 'Dysequilibrium syndrome' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Dysequilibrium syndrome' SubClassOf 'Rare hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia 'Familial dysautonomia' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Familial dysautonomia' SubClassOf 'Congenital alacrima' 'Familial dysautonomia' SubClassOf 'Rare genetic neurological disorder' 'Familial dysautonomia' SubClassOf 'Rare lacrimal system disease' http://www.orpha.net/ORDO/Orphanet_1759 Thoraco-abdominal enteric duplication 'Thoraco-abdominal enteric duplication' SubClassOf 'Syndromic intestinal malformation' 'Thoraco-abdominal enteric duplication' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1778 Facial dysmorphism - shawl scrotum - joint laxity 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1779 Dysmorphism - cleft palate - loose skin 'Dysmorphism - cleft palate - loose skin' SubClassOf 'Orofacial clefting syndrome' 'Dysmorphism - cleft palate - loose skin' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_1777 Temtamy syndrome 'Temtamy syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Temtamy syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Temtamy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Temtamy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1775 Dyskeratosis congenita 'Dyskeratosis congenita' SubClassOf 'Hereditary poikiloderma' 'Dyskeratosis congenita' SubClassOf 'Malformation syndrome with hamartosis' 'Dyskeratosis congenita' SubClassOf 'Inherited cancer-predisposing syndrome' 'Dyskeratosis congenita' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dyskeratosis congenita' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Dyskeratosis congenita' SubClassOf 'X-linked syndromic intellectual disability' 'Dyskeratosis congenita' SubClassOf 'immunodeficiency disease' 'Dyskeratosis congenita' SubClassOf 'inherited aplastic anemia' 'Dyskeratosis congenita' SubClassOf 'Conjunctival tumor' 'Dyskeratosis congenita' SubClassOf 'Rare constitutional medullar aplasia' 'Dyskeratosis congenita' SubClassOf 'Ectodermal dysplasia syndrome' 'Dyskeratosis congenita' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289365 Familial vesicoureteral reflux 'Familial vesicoureteral reflux' SubClassOf 'Genetic urogenital tract malformation' 'Familial vesicoureteral reflux' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289377 Early-onset myopathy with fatal cardiomyopathy 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Non-dystrophic myopathy' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Qualitative or quantitative defects of titin' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_289380 Myosclerosis 'Myosclerosis' SubClassOf 'Non-dystrophic myopathy with collagen 6 anomaly' 'Myosclerosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG 'ALG13-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG13-CDG' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'ALG13-CDG' SubClassOf 'inborn errors of metabolism' 'ALG13-CDG' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_1606 1p36 deletion syndrome '1p36 deletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 1' '1p36 deletion syndrome' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0008800 microphthalmia with limb anomalies 'microphthalmia with limb anomalies' SubClassOf 'autosomal recessive disease' 'microphthalmia with limb anomalies' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_324410 X-linked intellectual disability - cardiomegaly - congestive heart failure 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'Genetic cardiac rhythm disease' 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'Rare genetic cardiac disease' http://www.orpha.net/ORDO/Orphanet_324416 Muscular hypertrophy - hepatomegaly - polyhydramnios 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0008816 Chiari malformation type II 'Chiari malformation type II' SubClassOf 'Chiari malformation' 'Chiari malformation type II' SubClassOf 'Chiari malformation' http://purl.obolibrary.org/obo/MONDO_0008827 progressive pseudorheumatoid arthropathy of childhood 'progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'genetic disorder' 'progressive pseudorheumatoid arthropathy of childhood' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800092 http://www.orpha.net/ORDO/Orphanet_70470 Hyperlipoproteinemia type 5 'Hyperlipoproteinemia type 5' SubClassOf 'Major hypertriglyceridemia' 'Hyperlipoproteinemia type 5' SubClassOf 'Rare hyperlipidemia' http://www.orpha.net/ORDO/Orphanet_70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'Neurometabolic disease' 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'Leigh syndrome' 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria 'aspartylglucosaminuria' SubClassOf 'bone disease' 'aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://www.orpha.net/ORDO/Orphanet_228366 CLN7 disease 'CLN7 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN7 disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'CLN7 disease' SubClassOf 'Genetic neurodegenerative disease' 'CLN7 disease' SubClassOf 'Progressive myoclonic epilepsy' 'CLN7 disease' SubClassOf 'Lysosomal disease' 'CLN7 disease' SubClassOf 'Unclassified primitive or secondary maculopathy' http://purl.obolibrary.org/obo/MONDO_0008849 atrophoderma vermiculata 'atrophoderma vermiculata' SubClassOf 'keratosis pilaris atrophicans' 'atrophoderma vermiculata' SubClassOf 'keratosis pilaris atrophicans' http://www.ebi.ac.uk/efo/EFO_1000742 nodular nonsuppurative panniculitis 'nodular nonsuppurative panniculitis' SubClassOf 'panniculitis' 'nodular nonsuppurative panniculitis' SubClassOf 'panniculitis' http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia 'ataxia telangiectasia' SubClassOf 'skin vascular disease' 'ataxia telangiectasia' SubClassOf 'skin vascular disease' http://www.ebi.ac.uk/efo/EFO_1000740 neurodermatitis 'neurodermatitis' SubClassOf 'dermatitis' 'neurodermatitis' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000749 pemphigus 'pemphigus' SubClassOf 'autoimmune bullous skin disease' 'pemphigus' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_1000746 panniculitis 'panniculitis' SubClassOf 'connective tissue disease' 'panniculitis' SubClassOf 'connective tissue disease' http://www.orpha.net/ORDO/Orphanet_228363 CLN6 disease 'CLN6 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN6 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN6 disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'CLN6 disease' SubClassOf 'Progressive myoclonic epilepsy' 'CLN6 disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'CLN6 disease' SubClassOf 'Genetic neurodegenerative disease' 'CLN6 disease' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_228360 CLN5 disease 'CLN5 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN5 disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'CLN5 disease' SubClassOf 'Genetic neurodegenerative disease' 'CLN5 disease' SubClassOf 'Progressive myoclonic epilepsy' 'CLN5 disease' SubClassOf 'Lysosomal disease' 'CLN5 disease' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.orpha.net/ORDO/Orphanet_279943 Hereditary neutrophilia 'Hereditary neutrophilia' SubClassOf 'has_disease_location' some 'neutrophil' 'Hereditary neutrophilia' SubClassOf 'Rare genetic immune disease' 'Hereditary neutrophilia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228354 CLN8 disease 'CLN8 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN8 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN8 disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'CLN8 disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'CLN8 disease' SubClassOf 'Genetic neurodegenerative disease' 'CLN8 disease' SubClassOf 'Lysosomal disease' 'CLN8 disease' SubClassOf 'Progressive myoclonic epilepsy' http://www.orpha.net/ORDO/Orphanet_228357 CLN9 disease 'CLN9 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN9 disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'CLN9 disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'CLN9 disease' SubClassOf 'Lysosomal disease' 'CLN9 disease' SubClassOf 'Progressive myoclonic epilepsy' 'CLN9 disease' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1000753 phototoxic dermatitis 'phototoxic dermatitis' SubClassOf 'photosensitivity disease' 'phototoxic dermatitis' SubClassOf 'photosensitivity disease' http://www.ebi.ac.uk/efo/EFO_1000758 punctate palmoplantar keratoderma type III 'punctate palmoplantar keratoderma type III' SubClassOf 'Punctate palmoplantar keratoderma' 'punctate palmoplantar keratoderma type III' SubClassOf 'Genetic epidermal disorder' http://www.ebi.ac.uk/efo/EFO_1000756 pityriasis rosea 'pityriasis rosea' SubClassOf 'exanthem' 'pityriasis rosea' SubClassOf 'exanthem' http://www.ebi.ac.uk/efo/EFO_1000754 physical urticaria 'physical urticaria' SubClassOf 'urticaria' 'physical urticaria' SubClassOf 'urticaria' http://www.orpha.net/ORDO/Orphanet_228387 Spondylo-megaepiphyseal-metaphyseal dysplasia 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Metabolic disease with intestinal involvement' 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Mitochondrial disease with eye involvement' 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.ebi.ac.uk/efo/EFO_1000763 sebaceous gland disease 'sebaceous gland disease' SubClassOf 'skin appendage disorder' 'sebaceous gland disease' SubClassOf 'skin appendage disorder' http://purl.obolibrary.org/obo/MONDO_0008864 Biemond syndrome type 2 'Biemond syndrome type 2' SubClassOf 'syndromic intellectual disability' 'Biemond syndrome type 2' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000761 scalp dermatosis 'scalp dermatosis' SubClassOf 'skin disease' 'scalp dermatosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000767 skin sarcoidosis 'skin sarcoidosis' SubClassOf 'sarcoidosis' 'skin sarcoidosis' SubClassOf 'sarcoidosis' http://www.ebi.ac.uk/efo/EFO_1000766 skin atrophy 'skin atrophy' SubClassOf 'skin disease' 'skin atrophy' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0008879 Bowen-Conradi syndrome 'Bowen-Conradi syndrome' SubClassOf 'autosomal recessive disease' 'Bowen-Conradi syndrome' SubClassOf 'syndromic intellectual disability' 'Bowen-Conradi syndrome' SubClassOf 'autosomal recessive disease' 'Bowen-Conradi syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'osteochondrodysplasia' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'osteochondrodysplasia' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800063 http://www.ebi.ac.uk/efo/EFO_1000770 stromal corneal pigmentation 'stromal corneal pigmentation' SubClassOf 'corneal deposit' 'stromal corneal pigmentation' SubClassOf 'corneal deposit' http://www.ebi.ac.uk/efo/EFO_1000771 subcorneal pustular dermatosis 'subcorneal pustular dermatosis' SubClassOf 'autoimmune bullous skin disease' 'subcorneal pustular dermatosis' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_1000776 viral exanthem 'viral exanthem' SubClassOf 'exanthem' 'viral exanthem' SubClassOf 'exanthem' http://www.orpha.net/ORDO/Orphanet_228374 Severe early-onset axonal neuropathy due to NEFL deficiency 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008885 Elsahy-Waters syndrome 'Elsahy-Waters syndrome' SubClassOf 'syndromic intellectual disability' 'Elsahy-Waters syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000783 diabetic neuropathy 'diabetic neuropathy' SubClassOf 'peripheral neuropathy' 'diabetic neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0008884 oculoosteocutaneous syndrome 'oculoosteocutaneous syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'oculoosteocutaneous syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_1000784 microscopic polyangiitis 'microscopic polyangiitis' SubClassOf 'Arteritis' 'microscopic polyangiitis' SubClassOf 'Arteritis' http://purl.obolibrary.org/obo/HP_0000358 Posteriorly rotated ears 'Posteriorly rotated ears' SubClassOf 'Abnormality of the outer ear' 'Posteriorly rotated ears' SubClassOf 'Abnormality of the pinna' http://www.ebi.ac.uk/efo/EFO_1000781 overactive bladder 'overactive bladder' SubClassOf 'bladder disease' 'overactive bladder' SubClassOf 'bladder disease' http://purl.obolibrary.org/obo/MONDO_0008881 kyphomelic dysplasia 'kyphomelic dysplasia' SubClassOf 'bent bone dysplasia' 'kyphomelic dysplasia' SubClassOf 'bent bone dysplasia' http://www.ebi.ac.uk/efo/EFO_1000780 autoimmune pancreatitis type 1 'autoimmune pancreatitis type 1' SubClassOf 'autoimmune pancreatitis' 'autoimmune pancreatitis type 1' SubClassOf 'autoimmune pancreatitis' http://purl.obolibrary.org/obo/MONDO_0018201 extragonadal germ cell tumor 'extragonadal germ cell tumor' SubClassOf 'germ cell tumor' 'extragonadal germ cell tumor' SubClassOf 'germ cell tumor' http://www.ebi.ac.uk/efo/EFO_1000796 adrenal cortex carcinoma 'adrenal cortex carcinoma' SubClassOf 'malignant tumor of adrenal cortex' 'adrenal cortex carcinoma' SubClassOf 'malignant tumor of adrenal cortex' http://www.ebi.ac.uk/efo/EFO_1000797 adrenal gland hyperfunction 'adrenal gland hyperfunction' SubClassOf 'adrenal cortex disorder' 'adrenal gland hyperfunction' SubClassOf 'adrenal cortex disorder' http://purl.obolibrary.org/obo/MONDO_0008894 cataract-hypertrichosis-intellectual disability syndrome 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'hypertrichosis' 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'hypertrichosis' http://www.ebi.ac.uk/efo/EFO_1000795 acute retinal necrosis syndrome 'acute retinal necrosis syndrome' SubClassOf 'retinitis' 'acute retinal necrosis syndrome' SubClassOf 'retinitis' http://purl.obolibrary.org/obo/HP_0000369 Low-set ears 'Low-set ears' SubClassOf 'Abnormality of the outer ear' 'Low-set ears' SubClassOf 'Abnormality of the pinna' http://purl.obolibrary.org/obo/MONDO_0008893 C syndrome 'C syndrome' SubClassOf 'syndromic intellectual disability' 'C syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018215 paraneoplastic neurologic syndrome 'paraneoplastic neurologic syndrome' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic neurologic syndrome' SubClassOf 'paraneoplastic syndrome' http://www.ebi.ac.uk/efo/EFO_1000799 afferent loop syndrome 'afferent loop syndrome' SubClassOf 'postgastrectomy syndrome' 'afferent loop syndrome' SubClassOf 'postgastrectomy syndrome' http://www.orpha.net/ORDO/Orphanet_228390 Frontonasal dysplasia with alopecia and genital anomaly 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'Alopecia' 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'Frontonasal dysplasia' 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228396 Ptosis - upper ocular movement limitation - absence of lacrimal punctum 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'Ptosis' 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'Kinetic eyelid anomaly' 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'Rare lacrimal system disease' http://purl.obolibrary.org/obo/MONDO_0018239 aggrecan-related bone disorder 'aggrecan-related bone disorder' SubClassOf 'bone disease' 'aggrecan-related bone disorder' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis 'dysostosis' SubClassOf 'bone development disease' 'dysostosis' SubClassOf 'bone development disease' http://purl.obolibrary.org/obo/MONDO_0018233 otopalatodigital syndrome spectrum disorder 'otopalatodigital syndrome spectrum disorder' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia 'primary bone dysplasia' SubClassOf 'bone development disease' 'primary bone dysplasia' SubClassOf 'genetic disorder' 'primary bone dysplasia' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_206973 Congenital myotonia 'Congenital myotonia' SubClassOf 'Myotonic syndrome' 'Congenital myotonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206970 Myotonic syndrome 'Myotonic syndrome' SubClassOf 'Genetic skeletal muscle disease' 'Myotonic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002431 tumour of cranial and spinal nerves 'tumour of cranial and spinal nerves' SubClassOf 'peripheral nervous system disease' 'tumour of cranial and spinal nerves' SubClassOf 'peripheral nervous system disease' http://purl.obolibrary.org/obo/MONDO_0018248 intellectual disability-seizures-macrocephaly-obesity syndrome 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018240 TRPV4-related bone disorder 'TRPV4-related bone disorder' SubClassOf 'bone disease' 'TRPV4-related bone disorder' SubClassOf 'primary bone dysplasia' http://www.ebi.ac.uk/efo/EFO_0002422 benign neoplasm 'benign neoplasm' SubClassOf 'neoplasm' 'benign neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0043224 multi-infarct dementia 'multi-infarct dementia' SubClassOf 'vascular dementia' 'multi-infarct dementia' SubClassOf 'cerebral infarction' 'multi-infarct dementia' SubClassOf 'vascular dementia' 'multi-infarct dementia' SubClassOf 'cerebral infarction' http://www.ebi.ac.uk/efo/EFO_0002423 osteoma 'osteoma' SubClassOf 'bone benign neoplasm' 'osteoma' SubClassOf 'bone benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0002429 polycythemia vera 'polycythemia vera' SubClassOf 'polycythemia' http://purl.obolibrary.org/obo/MONDO_0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome 'intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_228305 Carnitine palmitoyl transferase II deficiency, severe infantile form 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228302 Carnitine palmitoyl transferase II deficiency, myopathic form 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228308 Carnitine palmitoyl transferase II deficiency, neonatal form 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018264 oculocutaneous albinism type 6 'oculocutaneous albinism type 6' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 6' SubClassOf 'oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_228329 CLN1 disease 'CLN1 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN1 disease' SubClassOf 'Infantile neuronal ceroid lipofuscinosis' 'CLN1 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN1 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN1 disease' SubClassOf 'Lysosomal disease' 'CLN1 disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'CLN1 disease' SubClassOf 'Genetic neurodegenerative disease' 'CLN1 disease' SubClassOf 'Progressive myoclonic epilepsy' 'CLN1 disease' SubClassOf 'Unclassified primitive or secondary maculopathy' http://www.ebi.ac.uk/efo/EFO_1000703 fox fordyce disease 'fox fordyce disease' SubClassOf 'sweat gland disease' 'fox fordyce disease' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1000701 follicular mucinosis 'follicular mucinosis' SubClassOf 'alopecia' 'follicular mucinosis' SubClassOf 'alopecia' http://www.ebi.ac.uk/efo/EFO_1000707 hemangioma of subcutaneous tissue 'hemangioma of subcutaneous tissue' SubClassOf 'hemangioma' 'hemangioma of subcutaneous tissue' SubClassOf 'hemangioma' http://www.ebi.ac.uk/efo/EFO_0002461 skeletal system disease 'skeletal system disease' SubClassOf 'musculoskeletal system disease' 'skeletal system disease' SubClassOf 'musculoskeletal system disease' http://www.ebi.ac.uk/efo/EFO_1000712 hypohidrosis 'hypohidrosis' SubClassOf 'sweat gland disease' 'hypohidrosis' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1000713 hypopigmentation of eyelid 'hypopigmentation of eyelid' SubClassOf 'eyelid disease' 'hypopigmentation of eyelid' SubClassOf 'eyelid disease' http://www.ebi.ac.uk/efo/EFO_1000710 hidradenitis suppurativa 'hidradenitis suppurativa' SubClassOf 'hidradenitis' 'hidradenitis suppurativa' SubClassOf 'hidradenitis' http://www.ebi.ac.uk/efo/EFO_1000718 irritant dermatitis 'irritant dermatitis' SubClassOf 'contact dermatitis' 'irritant dermatitis' SubClassOf 'contact dermatitis' http://www.ebi.ac.uk/efo/EFO_1000719 juvenile dermatitis herpetiformis 'juvenile dermatitis herpetiformis' SubClassOf 'dermatitis herpetiformis' 'juvenile dermatitis herpetiformis' SubClassOf 'dermatitis herpetiformis' http://www.orpha.net/ORDO/Orphanet_228343 CLN4B disease 'CLN4B disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN4B disease' SubClassOf 'Progressive myoclonic epilepsy' 'CLN4B disease' SubClassOf 'Lysosomal disease' 'CLN4B disease' SubClassOf 'Genetic neurodegenerative disease' 'CLN4B disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'CLN4B disease' SubClassOf 'Unclassified primitive or secondary maculopathy' http://www.orpha.net/ORDO/Orphanet_228349 CLN2 disease 'CLN2 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN2 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN2 disease' SubClassOf 'Progressive myoclonic epilepsy' 'CLN2 disease' SubClassOf 'Genetic neurodegenerative disease' 'CLN2 disease' SubClassOf 'Lysosomal disease' 'CLN2 disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'CLN2 disease' SubClassOf 'Unclassified primitive or secondary maculopathy' http://www.orpha.net/ORDO/Orphanet_228346 CLN3 disease 'CLN3 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN3 disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'CLN3 disease' SubClassOf 'Lysosomal disease' 'CLN3 disease' SubClassOf 'Progressive myoclonic epilepsy' 'CLN3 disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'CLN3 disease' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1000720 keratosis 'keratosis' SubClassOf 'skin disease' 'keratosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0002496 actinic keratosis 'actinic keratosis' SubClassOf 'skin neoplasm' 'actinic keratosis' SubClassOf 'skin neoplasm' http://www.ebi.ac.uk/efo/EFO_1000725 lichen nitidus 'lichen nitidus' SubClassOf 'lichen disease' 'lichen nitidus' SubClassOf 'lichen disease' http://www.ebi.ac.uk/efo/EFO_1000726 lichen planus 'lichen planus' SubClassOf 'lichen disease' 'lichen planus' SubClassOf 'lichen disease' http://purl.obolibrary.org/obo/MONDO_0043237 glossodynia 'glossodynia' SubClassOf 'tongue disorder' 'glossodynia' SubClassOf 'neurological pain disorder' 'glossodynia' SubClassOf 'tongue disorder' 'glossodynia' SubClassOf 'neurological pain disorder' http://www.ebi.ac.uk/efo/EFO_1000724 lichen disease 'lichen disease' SubClassOf 'skin disease' 'lichen disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000721 kernicterus due to isoimmunization 'kernicterus due to isoimmunization' SubClassOf 'neonatal anemia' 'kernicterus due to isoimmunization' SubClassOf 'neonatal anemia' http://www.orpha.net/ORDO/Orphanet_228340 CLN4A disease 'CLN4A disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN4A disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'CLN4A disease' SubClassOf 'Lysosomal disease' 'CLN4A disease' SubClassOf 'Progressive myoclonic epilepsy' 'CLN4A disease' SubClassOf 'Genetic neurodegenerative disease' 'CLN4A disease' SubClassOf 'Unclassified primitive or secondary maculopathy' http://www.ebi.ac.uk/efo/EFO_1000729 loiasis 'loiasis' SubClassOf 'filariasis' 'loiasis' SubClassOf 'filariasis' http://www.orpha.net/ORDO/Orphanet_228337 CLN10 disease 'CLN10 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_1000730 Ludwig's angina 'Ludwig's angina' SubClassOf 'mouth disease' 'Ludwig's angina' SubClassOf 'cellulitis' 'Ludwig's angina' SubClassOf 'mouth disease' 'Ludwig's angina' SubClassOf 'cellulitis' http://www.ebi.ac.uk/efo/EFO_1000736 mongolian spot 'mongolian spot' SubClassOf 'skin disease' 'mongolian spot' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000737 multiple symmetric lipomatosis 'multiple symmetric lipomatosis' SubClassOf 'lipomatosis' 'multiple symmetric lipomatosis' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_1000734 miliaria 'miliaria' SubClassOf 'sweat gland disease' 'miliaria' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1000735 miliaria rubra 'miliaria rubra' SubClassOf 'miliaria' 'miliaria rubra' SubClassOf 'miliaria' http://www.orpha.net/ORDO/Orphanet_1660 Dermo-odonto dysplasia 'Dermo-odonto dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Dermo-odonto dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermo-odonto dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300525 Pseudohypoaldosteronism type 2D 'Pseudohypoaldosteronism type 2D' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2D' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1671 Diastematomyelia 'Diastematomyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Diastematomyelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1670 Chronic diarrhea with villous atrophy 'Chronic diarrhea with villous atrophy' SubClassOf 'Genetic intractable diarrhea of infancy' 'Chronic diarrhea with villous atrophy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Chronic diarrhea with villous atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1677 Familial idiopathic dilatation of the right atrium 'Familial idiopathic dilatation of the right atrium' SubClassOf 'has_disease_location' some 'right cardiac atrium' 'Familial idiopathic dilatation of the right atrium' SubClassOf 'Rare genetic cardiac disease' 'Familial idiopathic dilatation of the right atrium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1675 Dihydropyrimidine dehydrogenase deficiency 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300530 Pseudohypoaldosteronism type 2E 'Pseudohypoaldosteronism type 2E' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2E' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1692 Mosaic trisomy 1 'Mosaic trisomy 1' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1699 Trisomy 12p 'Trisomy 12p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 12' 'Trisomy 12p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1698 Mosaic trisomy 12 'Mosaic trisomy 12' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 12' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1695 Non-distal trisomy 10q 'Non-distal trisomy 10q' SubClassOf 'Partial duplication of the long arm of chromosome 10' 'Non-distal trisomy 10q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1636 Distal monosomy 7q36 'Distal monosomy 7q36' SubClassOf 'Partial deletion of the long arm of chromosome 7' 'Distal monosomy 7q36' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33573 Gamma-glutamyl transpeptidase deficiency 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' 'Gamma-glutamyl transpeptidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33574 Gamma-glutamylcysteine synthetase deficiency 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206953 Muscular lipidosis 'Muscular lipidosis' SubClassOf 'Metabolic myopathy' 'Muscular lipidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1646 Partial chromosome Y deletion 'Partial chromosome Y deletion' SubClassOf 'Male infertility with spermatogenesis disorder' 'Partial chromosome Y deletion' SubClassOf 'Chromosome Y structural anomaly' 'Partial chromosome Y deletion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1647 Oculocerebrocutaneous syndrome 'Oculocerebrocutaneous syndrome' SubClassOf 'Epilepsy syndrome' 'Oculocerebrocutaneous syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrocutaneous syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206959 Muscular glycogenosis 'Muscular glycogenosis' SubClassOf 'Metabolic myopathy' 'Muscular glycogenosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1642 Distal monosomy 9p 'Distal monosomy 9p' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Distal monosomy 9p' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Distal monosomy 9p' SubClassOf 'Partial deletion of the short arm of chromosome 9' 'Distal monosomy 9p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1657 Dermatoosteolysis, Kirghizian type 'Dermatoosteolysis, Kirghizian type' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermatoosteolysis, Kirghizian type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1655 Müllerian derivatives - lymphangiectasia - polydactyly 'Müllerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'Syndromic lymphedema' 'Müllerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_1653 Dentin dysplasia 'Dentin dysplasia' SubClassOf 'Hereditary dentin defect' 'Dentin dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206966 Mitochondrial myopathy 'Mitochondrial myopathy' SubClassOf 'Muscular lipidosis' 'Mitochondrial myopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.ebi.ac.uk/efo/EFO_1000467 Peritoneal Mesothelioma 'Peritoneal Mesothelioma' SubClassOf 'peritoneal neoplasm' 'Peritoneal Mesothelioma' SubClassOf 'peritoneal neoplasm' http://www.orpha.net/ORDO/Orphanet_1941 Juvenile absence epilepsy 'Juvenile absence epilepsy' SubClassOf 'Familial partial epilepsy' 'Juvenile absence epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000465 Penile Carcinoma 'Penile Carcinoma' SubClassOf 'penile cancer' 'Penile Carcinoma' SubClassOf 'carcinoma' 'Penile Carcinoma' SubClassOf 'penile cancer' 'Penile Carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_1942 Myoclonic-astastic epilepsy 'Myoclonic-astastic epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Myoclonic-astastic epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000460 Parotid Gland Carcinoma 'Parotid Gland Carcinoma' SubClassOf 'parotid gland cancer' 'Parotid Gland Carcinoma' SubClassOf 'parotid gland cancer' http://www.orpha.net/ORDO/Orphanet_79147 Familial reactive perforating collagenosis 'Familial reactive perforating collagenosis' SubClassOf 'Genetic dermis elastic tissue disorder' 'Familial reactive perforating collagenosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79146 Familial progressive hyperpigmentation 'Familial progressive hyperpigmentation' SubClassOf 'Genetic hyperpigmentation of the skin' 'Familial progressive hyperpigmentation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79149 Dermochondrocorneal dystrophy 'Dermochondrocorneal dystrophy' SubClassOf 'inherited epidermolysis bullosa' 'Dermochondrocorneal dystrophy' SubClassOf 'Syndromic corneal dystrophy' 'Dermochondrocorneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1935 Early myoclonic encephalopathy 'Early myoclonic encephalopathy' SubClassOf 'Mitochondrial substrate carrier disorder' 'Early myoclonic encephalopathy' SubClassOf 'Neonatal epilepsy syndrome' 'Early myoclonic encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79142 Familial Dupuytren contracture 'Familial Dupuytren contracture' SubClassOf 'Other genetic epidermal disease' 'Familial Dupuytren contracture' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_157801 Mesoaxial synostotic syndactyly with phalangeal reduction 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'Syndactyly' 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79144 Congenital onychodysplasia 'Congenital onychodysplasia' SubClassOf 'Syndromic nail anomaly' http://www.orpha.net/ORDO/Orphanet_79141 Hereditary painful callosities 'Hereditary painful callosities' SubClassOf 'Isolated focal palmoplantar keratoderma' 'Hereditary painful callosities' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363700 Neurofibromatosis type 1 due to NF1mutation or intragenic deletion 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'Neurofibromatosis type 1' 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'Rare genetic renal disease' 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'Inherited cancer-predisposing syndrome' 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'Phakomatosis with eye involvement' 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_1954 Congenital lethal erythroderma 'Congenital lethal erythroderma' SubClassOf 'Unclassified genetic skin disorder' 'Congenital lethal erythroderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000478 Pituitary Gland Adenoma 'Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Pituitary Gland Adenoma' SubClassOf 'pituitary tumor' 'Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Pituitary Gland Adenoma' SubClassOf 'pituitary tumor' http://www.orpha.net/ORDO/Orphanet_1955 Spinocerebellar ataxia type 34 'Spinocerebellar ataxia type 34' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 34' SubClassOf 'Genetic erythrokeratoderma' 'Spinocerebellar ataxia type 34' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1952 Pacman dysplasia 'Pacman dysplasia' SubClassOf 'Primary osteolysis' 'Pacman dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000476 Pineocytoma 'Pineocytoma' SubClassOf 'benign endocrine neoplasm' 'Pineocytoma' SubClassOf 'Benign Brain Neoplasm' 'Pineocytoma' SubClassOf 'benign endocrine neoplasm' 'Pineocytoma' SubClassOf 'Benign Brain Neoplasm' http://www.orpha.net/ORDO/Orphanet_1951 Epilepsy telangiectasia 'Epilepsy telangiectasia' SubClassOf 'Epilepsy syndrome' 'Epilepsy telangiectasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Epilepsy telangiectasia' SubClassOf 'Rare genetic epilepsy' 'Epilepsy telangiectasia' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1949 Benign familial neonatal seizures 'Benign familial neonatal seizures' SubClassOf 'Neonatal epilepsy syndrome' 'Benign familial neonatal seizures' SubClassOf 'Familial partial epilepsy' 'Benign familial neonatal seizures' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Benign familial neonatal seizures' SubClassOf 'Channelopathy with epilepsy' 'Benign familial neonatal seizures' SubClassOf 'perinatal disease' http://www.orpha.net/ORDO/Orphanet_1947 Progressive epilepsy - intellectual disability, Finnish type 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Lysosomal disease' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_79136 Episodic ataxia type 4 'Episodic ataxia type 4' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1948 Epilepsy - microcephaly - skeletal dysplasia 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_79135 Episodic ataxia type 3 'Episodic ataxia type 3' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000479 Placental Choriocarcinoma 'Placental Choriocarcinoma' SubClassOf 'Gestational trophoblastic neoplasm' http://www.orpha.net/ORDO/Orphanet_1945 Rolandic epilepsy 'Rolandic epilepsy' SubClassOf 'Familial partial epilepsy' 'Rolandic epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Rolandic epilepsy' SubClassOf 'Channelopathy with epilepsy' http://www.orpha.net/ORDO/Orphanet_1946 Amelo-cerebro-hypohidrotic syndrome 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'Rare genetic skin disease' 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_79137 Generalized epilepsy - paroxysmal dyskinesia 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'Familial partial epilepsy' 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'Channelopathy with epilepsy' http://www.orpha.net/ORDO/Orphanet_79132 Sparse hair - short stature - skin anomalies 'Sparse hair - short stature - skin anomalies' SubClassOf 'Ectodermal dysplasia syndrome' 'Sparse hair - short stature - skin anomalies' SubClassOf 'Rare genetic skin disease' 'Sparse hair - short stature - skin anomalies' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_79133 Focal facial dermal dysplasia type I 'Focal facial dermal dysplasia type I' SubClassOf 'Focal facial dermal dysplasia' 'Focal facial dermal dysplasia type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000480 Placental Hemangioma 'Placental Hemangioma' SubClassOf 'Tuberculosis, Cutaneous' 'Placental Hemangioma' SubClassOf 'Tuberculosis, Cutaneous' http://www.orpha.net/ORDO/Orphanet_363710 Spinocerebellar ataxia type 37 'Spinocerebellar ataxia type 37' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 37' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169802 Severe hemophilia A 'Severe hemophilia A' SubClassOf 'Hemophilia A' 'Severe hemophilia A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000485 Pleural Mesothelioma 'Pleural Mesothelioma' SubClassOf 'pleural neoplasm' 'Pleural Mesothelioma' SubClassOf 'pleural neoplasm' http://www.orpha.net/ORDO/Orphanet_1962 Exostoses - anetodermia - brachydactyly type E 'Exostoses - anetodermia - brachydactyly type E' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Exostoses - anetodermia - brachydactyly type E' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_79129 Trichodysplasia - amelogenesis imperfecta 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1956 Erythromelalgia 'Erythromelalgia' SubClassOf 'Unclassified genetic skin disorder' 'Erythromelalgia' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Erythromelalgia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_157820 Cold-induced sweating syndrome 'Cold-induced sweating syndrome' SubClassOf 'Cold-induced sweating syndrome-hyperthermia spectrum' 'Cold-induced sweating syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363705 Craniofaciofrontodigital syndrome 'Craniofaciofrontodigital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Craniofaciofrontodigital syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Craniofaciofrontodigital syndrome' SubClassOf 'Cutis laxa' 'Craniofaciofrontodigital syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_157808 Congenital pseudoarthrosis of the limbs 'Congenital pseudoarthrosis of the limbs' SubClassOf 'Non-syndromic limb malformation' 'Congenital pseudoarthrosis of the limbs' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Congenital pseudoarthrosis of the limbs' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000499 Prostate Small Cell Carcinoma 'Prostate Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Prostate Small Cell Carcinoma' SubClassOf 'small cell carcinoma' http://www.orpha.net/ORDO/Orphanet_1974 Autosomal recessive facio-digito-genital syndrome 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_1972 Lethal faciocardiomelic dysplasia 'Lethal faciocardiomelic dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Lethal faciocardiomelic dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Lethal faciocardiomelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1973 Faciocardiorenal syndrome 'Faciocardiorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Faciocardiorenal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Faciocardiorenal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000493 Primary Melanocytic Lesion of Meninges 'Primary Melanocytic Lesion of Meninges' SubClassOf 'Meningioma' 'Primary Melanocytic Lesion of Meninges' SubClassOf 'meningeal neoplasm' 'Primary Melanocytic Lesion of Meninges' SubClassOf 'has_disease_location' some 'meninx' http://www.orpha.net/ORDO/Orphanet_1970 Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_79113 Mandibulofacial dysostosis-microcephaly syndrome 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Acrofacial dysostosis' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Orofacial clefting syndrome' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314721 Atypical dentin dysplasia due to SMOC2 deficiency 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'Dentin dysplasia' 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder-Zellweger syndrome spectrum 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Leukodystrophy' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Peroxisomal disease' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Neurometabolic disease' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'inborn errors of metabolism' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_79188 Peroxisomal beta-oxidation disorder 'Peroxisomal beta-oxidation disorder' SubClassOf 'Peroxisomal disease' 'Peroxisomal beta-oxidation disorder' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Peroxisomal beta-oxidation disorder' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Syndromic microphthalmia' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'anophthalmia-microphthalmia syndrome' http://www.orpha.net/ORDO/Orphanet_79178 Glucose transport disorder 'Glucose transport disorder' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Glucose transport disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79177 Gluconeogenesis disorder 'Gluconeogenesis disorder' SubClassOf 'Disorder of carbohydrate metabolism' 'Gluconeogenesis disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008706 Ackerman syndrome 'Ackerman syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Ackerman syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008705 lysosomal acid phosphatase deficiency 'lysosomal acid phosphatase deficiency' SubClassOf 'lysosomal storage disease' 'lysosomal acid phosphatase deficiency' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0008703 acromesomelic dysplasia 2A 'acromesomelic dysplasia 2A' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 2A' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008702 achondrogenesis type II 'achondrogenesis type II' SubClassOf 'hereditary disorder of connective tissue' 'achondrogenesis type II' SubClassOf 'type 2 collagenopathy' 'achondrogenesis type II' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0008701 achondrogenesis type IA 'achondrogenesis type IA' SubClassOf 'achondrogenesis' 'achondrogenesis type IA' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800080 'achondrogenesis type IA' SubClassOf 'achondrogenesis' http://www.orpha.net/ORDO/Orphanet_314701 Primary systemic amyloidosis 'Primary systemic amyloidosis' SubClassOf 'AL amyloidosis' 'Primary systemic amyloidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79168 Disorder of bile acid synthesis 'Disorder of bile acid synthesis' SubClassOf 'Sterol metabolism disorder' 'Disorder of bile acid synthesis' SubClassOf 'Disorder of lipid metabolism' http://www.orpha.net/ORDO/Orphanet_79161 Disorder of carbohydrate metabolism 'Disorder of carbohydrate metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of carbohydrate metabolism' SubClassOf 'inborn errors of metabolism' 'Disorder of carbohydrate metabolism' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_79163 Classic organic aciduria 'Classic organic aciduria' SubClassOf 'Organic aciduria' 'Classic organic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome 'acrocallosal syndrome' SubClassOf 'syndromic intellectual disability' 'acrocallosal syndrome' SubClassOf 'syndromic intellectual disability' 'acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0008714 acrofacial dysostosis Rodriguez type 'acrofacial dysostosis Rodriguez type' SubClassOf 'syndromic intellectual disability' 'acrofacial dysostosis Rodriguez type' SubClassOf 'syndromic intellectual disability' 'acrofacial dysostosis Rodriguez type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://purl.obolibrary.org/obo/MONDO_0008713 acrodermatitis enteropathica 'acrodermatitis enteropathica' SubClassOf 'disorder of zinc metabolism' 'acrodermatitis enteropathica' SubClassOf 'disorder of zinc metabolism' http://www.orpha.net/ORDO/Orphanet_314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1931 Frontal encephalocele 'Frontal encephalocele' SubClassOf 'Isolated encephalocele' 'Frontal encephalocele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1928 Congenital lobar emphysema 'Congenital lobar emphysema' SubClassOf 'Genetic respiratory malformation' 'Congenital lobar emphysema' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Congenital lobar emphysema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79158 Cerebral organic aciduria 'Cerebral organic aciduria' SubClassOf 'Organic aciduria' 'Cerebral organic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314709 Primary localized amyloidosis 'Primary localized amyloidosis' SubClassOf 'AL amyloidosis' 'Primary localized amyloidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79159 Isobutyryl-CoA dehydrogenase deficiency 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Classic organic aciduria' 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79155 Encephalopathy due to hydroxykynureninuria 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Disorder of tryptophan metabolism' 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to hydroxykynureninuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79150 Linear and whorled nevoid hypermelanosis 'Linear and whorled nevoid hypermelanosis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Linear and whorled nevoid hypermelanosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79152 Disseminated superficial actinic porokeratosis 'Disseminated superficial actinic porokeratosis' SubClassOf 'Genetic porokeratosis' 'Disseminated superficial actinic porokeratosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008725 congenital lipoid adrenal hyperplasia due to STAR deficency 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'congenital adrenal hyperplasia' 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008721 medium chain acyl-CoA dehydrogenase deficiency 'medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' 'medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_251038 3q29 microduplication '3q29 microduplication' SubClassOf 'Partial duplication of the long arm of chromosome 3' '3q29 microduplication' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://www.orpha.net/ORDO/Orphanet_263004 Partial duplication of the long arm of chromosome 22 'Partial duplication of the long arm of chromosome 22' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of the long arm of chromosome 22' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008747 oculocutaneous albinism type 3 'oculocutaneous albinism type 3' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 3' SubClassOf 'oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_251004 Paternal uniparental disomy of chromosome 1 'Paternal uniparental disomy of chromosome 1' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008743 Stimmler syndrome 'Stimmler syndrome' SubClassOf 'syndromic intellectual disability' 'Stimmler syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008740 agnathia-otocephaly complex 'agnathia-otocephaly complex' SubClassOf 'syndromic intellectual disability' 'agnathia-otocephaly complex' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008758 mitochondrial DNA depletion syndrome 4a 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'inherited neurodegenerative disorder' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0008756 alopecia - intellectual disability syndrome 'alopecia - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'alopecia - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008753 alkaptonuria 'alkaptonuria' SubClassOf 'disorder of tyrosine metabolism' 'alkaptonuria' SubClassOf 'disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0008752 Alexander disease 'Alexander disease' SubClassOf 'leukodystrophy' 'Alexander disease' SubClassOf 'leukodystrophy' http://www.ebi.ac.uk/efo/EFO_1000419 Ovarian Germ Cell Tumor 'Ovarian Germ Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Germ Cell Tumor' SubClassOf 'ovarian neoplasm' http://purl.obolibrary.org/obo/MONDO_0021718 polyneuritis 'polyneuritis' SubClassOf 'polyneuropathy' 'polyneuritis' SubClassOf 'polyneuropathy' http://www.ebi.ac.uk/efo/EFO_1000418 Ovarian Endometriosis 'Ovarian Endometriosis' SubClassOf 'endometriosis' 'Ovarian Endometriosis' SubClassOf 'ovarian disease' 'Ovarian Endometriosis' SubClassOf 'endometriosis' 'Ovarian Endometriosis' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_1000413 Ovarian Choriocarcinoma 'Ovarian Choriocarcinoma' SubClassOf 'malignant germ cell tumor of ovary' 'Ovarian Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Ovarian Choriocarcinoma' SubClassOf 'malignant germ cell tumor of ovary' 'Ovarian Choriocarcinoma' SubClassOf 'choriocarcinoma' http://www.orpha.net/ORDO/Orphanet_251009 Maternal uniparental disomy of chromosome 1 'Maternal uniparental disomy of chromosome 1' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79195 Sterol biosynthesis disorder 'Sterol biosynthesis disorder' SubClassOf 'Sterol metabolism disorder' 'Sterol biosynthesis disorder' SubClassOf 'Developmental anomaly of metabolic origin' 'Sterol biosynthesis disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008766 amaurosis-hypertrichosis syndrome 'amaurosis-hypertrichosis syndrome' SubClassOf 'inherited retinal dystrophy' 'amaurosis-hypertrichosis syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome 'Alstrom syndrome' SubClassOf 'autosomal recessive disease' 'Alstrom syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008762 autosomal recessive Alport syndrome 'autosomal recessive Alport syndrome' SubClassOf 'autosomal recessive disease' 'autosomal recessive Alport syndrome' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0000217 gastritis 'gastritis' SubClassOf 'stomach disease' 'gastritis' SubClassOf 'inflammatory disease' 'gastritis' SubClassOf 'stomach disease' 'gastritis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_289601 Hereditary arterial and articular multiple calcification syndrome 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'Rare genetic vascular disease' 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has_disease_location' some 'artery' 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251076 8p23.1 microduplication syndrome '8p23.1 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 8' '8p23.1 microduplication syndrome' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta type 1G 'amelogenesis imperfecta type 1G' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta type 1G' SubClassOf 'amelogenesis imperfecta' http://www.ebi.ac.uk/efo/EFO_1000437 Ovarian Yolk Sac Tumor 'Ovarian Yolk Sac Tumor' SubClassOf 'endodermal sinus tumor' 'Ovarian Yolk Sac Tumor' SubClassOf 'endodermal sinus tumor' http://www.orpha.net/ORDO/Orphanet_251043 Ring chromosome 5 'Ring chromosome 5' SubClassOf 'Ring chromosome' 'Ring chromosome 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002892 thyroid carcinoma 'thyroid carcinoma' SubClassOf 'carcinoma' 'thyroid carcinoma' SubClassOf 'thyroid cancer' 'thyroid carcinoma' SubClassOf 'carcinoma' 'thyroid carcinoma' SubClassOf 'thyroid cancer' http://www.ebi.ac.uk/efo/EFO_0000233 adenosquamous lung carcinoma 'adenosquamous lung carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'adenosquamous lung carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000449 Papillary Meningioma 'Papillary Meningioma' SubClassOf 'Meningioma' 'Papillary Meningioma' SubClassOf 'has_disease_location' some 'meninx' 'Papillary Meningioma' SubClassOf 'meningeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0018102 corneal dystrophy 'corneal dystrophy' SubClassOf 'corneal disease' 'corneal dystrophy' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0008797 anodontia 'anodontia' SubClassOf 'genetic disorder' 'anodontia' SubClassOf 'tooth disease' 'anodontia' SubClassOf 'genetic disorder' 'anodontia' SubClassOf 'tooth disease' http://www.ebi.ac.uk/efo/EFO_1000456 Parathyroid Gland Carcinoma 'Parathyroid Gland Carcinoma' SubClassOf 'malignant tumor of parathyroid gland' 'Parathyroid Gland Carcinoma' SubClassOf 'malignant tumor of parathyroid gland' http://www.ebi.ac.uk/efo/EFO_0000221 acute monocytic leukemia 'acute monocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute monocytic leukemia' SubClassOf 'monocytic leukemia' 'acute monocytic leukemia' SubClassOf 'inherited acute myeloid leukemia' 'acute monocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute monocytic leukemia' SubClassOf 'monocytic leukemia' http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia 'acute myeloid leukemia' SubClassOf 'myeloproliferative disorder' 'acute myeloid leukemia' SubClassOf 'hereditary disorder of connective tissue' 'acute myeloid leukemia' SubClassOf 'myeloid leukemia' 'acute myeloid leukemia' SubClassOf 'myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0000224 acute promyelocytic leukemia 'acute promyelocytic leukemia' SubClassOf 'inherited acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0000228 adenocarcinoma 'adenocarcinoma' SubClassOf 'carcinoma' 'adenocarcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia 'galactosemia' SubClassOf 'disorder of galactose metabolism' 'galactosemia' SubClassOf 'disorder of galactose metabolism' http://www.ebi.ac.uk/efo/EFO_1000457 Parathyroid Hyperplasia 'Parathyroid Hyperplasia' SubClassOf 'parathyroid disease' 'Parathyroid Hyperplasia' SubClassOf 'parathyroid disease' http://purl.obolibrary.org/obo/MONDO_0018150 Gaucher disease 'Gaucher disease' SubClassOf 'sphingolipidosis' 'Gaucher disease' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0018171 malignant germ cell tumor of ovary 'malignant germ cell tumor of ovary' SubClassOf 'Ovarian Germ Cell Tumor' 'malignant germ cell tumor of ovary' SubClassOf 'Ovarian Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0018163 autosomal recessive cutis laxa type 2A 'autosomal recessive cutis laxa type 2A' SubClassOf 'cerebral organic aciduria' 'autosomal recessive cutis laxa type 2A' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'autosomal recessive cutis laxa type 2A' SubClassOf 'defect in V-ATPase' 'autosomal recessive cutis laxa type 2A' SubClassOf 'congenital nervous system disorder' 'autosomal recessive cutis laxa type 2A' SubClassOf 'neurometabolic disease' 'autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://www.ebi.ac.uk/efo/EFO_0000191 MALT lymphoma 'MALT lymphoma' SubClassOf 'marginal zone B-cell lymphoma' 'MALT lymphoma' SubClassOf 'marginal zone B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_0000198 myelodysplastic syndrome 'myelodysplastic syndrome' SubClassOf 'myeloid hemopathy' 'myelodysplastic syndrome' SubClassOf 'myeloid hemopathy' http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma 'head and neck squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'head and neck squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_314802 Short stature due to partial GHR deficiency 'Short stature due to partial GHR deficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Short stature due to partial GHR deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314811 Short stature due to GHSR deficiency 'Short stature due to GHSR deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Short stature due to GHSR deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1980 Bilateral striopallidodentate calcinosis 'Bilateral striopallidodentate calcinosis' SubClassOf 'calcium metabolic disease' 'Bilateral striopallidodentate calcinosis' SubClassOf 'Genetic dementia' 'Bilateral striopallidodentate calcinosis' SubClassOf 'basal ganglia disease' 'Bilateral striopallidodentate calcinosis' SubClassOf 'inborn errors of metabolism' 'Bilateral striopallidodentate calcinosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Bilateral striopallidodentate calcinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1987 Femoral agenesis/hypoplasia 'Femoral agenesis/hypoplasia' SubClassOf 'Non-syndromic limb reduction defect' 'Femoral agenesis/hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169826 Congenital vitamin K-dependent coagulation factors deficiency 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1988 Femoral-facial syndrome 'Femoral-facial syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Femoral-facial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Femoral-facial syndrome' SubClassOf 'Orofacial clefting syndrome' 'Femoral-facial syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79224 Disorder of purine or pyrimidine metabolism 'Disorder of purine or pyrimidine metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of purine or pyrimidine metabolism' SubClassOf 'inborn errors of metabolism' 'Disorder of purine or pyrimidine metabolism' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_79226 Sterol metabolism disorder 'Sterol metabolism disorder' SubClassOf 'Disorder of lipid metabolism' 'Sterol metabolism disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79225 Sphingolipidosis 'Sphingolipidosis' SubClassOf 'Lipid storage disease' 'Sphingolipidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1979 Lipodystrophy due to peptidic growth factors deficiency 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'Genetic lipodystrophy' 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_157846 Neuroferritinopathy 'Neuroferritinopathy' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Neuroferritinopathy' SubClassOf 'Disorder of iron metabolism and transport' 'Neuroferritinopathy' SubClassOf 'Huntington disease-like syndrome' 'Neuroferritinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1997 Blepharo-cheilo-odontic syndrome 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Congenital ectropion' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Orofacial clefting syndrome' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Rare genetic skin disease' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Rare palpebral disease' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_1995 Cleft lip - retinopathy 'Cleft lip - retinopathy' SubClassOf 'Syndromic retinitis pigmentosa' 'Cleft lip - retinopathy' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip - retinopathy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cleft lip - retinopathy' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Cleft lip - retinopathy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_79219 Metabolic disease involving other neurotransmitter deficiency 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis 'Mucopolysaccharidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Mucopolysaccharidosis' SubClassOf 'Rare disease with glaucoma as a major feature' 'Mucopolysaccharidosis' SubClassOf 'Lysosomal disease' 'Mucopolysaccharidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169808 Mild hemophilia A 'Mild hemophilia A' SubClassOf 'Hemophilia A' 'Mild hemophilia A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79212 Mucolipidosis 'Mucolipidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Mucolipidosis' SubClassOf 'Glycoproteinosis' 'Mucolipidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79215 Oligosaccharidosis 'Oligosaccharidosis' SubClassOf 'Glycoproteinosis' 'Oligosaccharidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Oligosaccharidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169805 Moderately severe hemophilia A 'Moderately severe hemophilia A' SubClassOf 'Hemophilia A' 'Moderately severe hemophilia A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79214 Disorder of biogenic amine metabolism and transport 'Disorder of biogenic amine metabolism and transport' SubClassOf 'Inborn errors of metabolism' 'Disorder of biogenic amine metabolism and transport' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Disorder of biogenic amine metabolism and transport' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_79201 Glycogen storage disease 'Glycogen storage disease' SubClassOf 'Disorder of carbohydrate metabolism' 'Glycogen storage disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79200 Disorder of energy metabolism 'Disorder of energy metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of energy metabolism' SubClassOf 'inborn errors of metabolism' 'Disorder of energy metabolism' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_157850 Pantothenate kinase-associated neurodegeneration 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Neuroacanthocytosis' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'vitamin metabolic disorder' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Syndromic retinitis pigmentosa' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'participates_in' some ('pantothenate metabolic process' and ('has component' some 'abnormal')) 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_67036 Autosomal dominant optic atrophy and cataract 'Autosomal dominant optic atrophy and cataract' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy and cataract' SubClassOf 'hereditary optic atrophy' http://www.orpha.net/ORDO/Orphanet_1822 Dysplasia epiphysealis hemimelica 'Dysplasia epiphysealis hemimelica' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Dysplasia epiphysealis hemimelica' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314889 Autosomal dominant proximal renal tubular acidosis 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'Proximal renal tubular acidosis' 'Autosomal dominant proximal renal tubular acidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1818 Ectodermal dysplasia, trichoodontoonychial type 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_67044 Thrombocytopenia with congenital dyserythropoietic anemia 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'Congenital dyserythropoietic anemia' 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'Inherited giant platelet disorder' 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1834 Axial mesodermal dysplasia spectrum 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic renal or urinary tract malformation' 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic anorectal malformation' 'Axial mesodermal dysplasia spectrum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000596 Tibial Adamantinoma 'Tibial Adamantinoma' SubClassOf 'Adamantinoma' 'Tibial Adamantinoma' SubClassOf 'adamantinoma' 'Tibial Adamantinoma' SubClassOf 'adamantinoma' 'Tibial Adamantinoma' SubClassOf 'Genetic bone tumor' http://www.orpha.net/ORDO/Orphanet_67042 Late-onset retinal degeneration 'Late-onset retinal degeneration' SubClassOf 'Retinal dystrophy' 'Late-onset retinal degeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1832 Lethal osteosclerotic bone dysplasia 'Lethal osteosclerotic bone dysplasia' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Lethal osteosclerotic bone dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000595 Thyroid Gland Undifferentiated (Anaplastic) Carcinoma 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'thyroid carcinoma' http://www.orpha.net/ORDO/Orphanet_67041 Hyaluronidase deficiency 'Hyaluronidase deficiency' SubClassOf 'Mucopolysaccharidosis' 'Hyaluronidase deficiency' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Hyaluronidase deficiency' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Hyaluronidase deficiency' SubClassOf 'Lysosomal disease' 'Hyaluronidase deficiency' SubClassOf 'Rare genetic bone disease' 'Hyaluronidase deficiency' SubClassOf 'Rare disease with glaucoma as a major feature' http://www.orpha.net/ORDO/Orphanet_1826 Frontometaphyseal dysplasia 'Frontometaphyseal dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Frontometaphyseal dysplasia' SubClassOf 'otopalatodigital syndrome' 'Frontometaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1827 Acromelic frontonasal dysplasia 'Acromelic frontonasal dysplasia' SubClassOf 'Acrofacial dysostosis' 'Acromelic frontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Acromelic frontonasal dysplasia' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Acromelic frontonasal dysplasia' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_1825 Epiphyseal dysplasia - hearing loss - dysmorphism 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_1844 Bone dysplasia, Azouz type 'Bone dysplasia, Azouz type' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Bone dysplasia, Azouz type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1842 Bone dysplasia, lethal Holmgren type 'Bone dysplasia, lethal Holmgren type' SubClassOf 'Lethal chondrodysplasia' 'Bone dysplasia, lethal Holmgren type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1839 Hereditary mucoepithelial dysplasia 'Hereditary mucoepithelial dysplasia' SubClassOf 'Genetic immune deficiency with skin involvement' 'Hereditary mucoepithelial dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1837 Ulna metaphyseal dysplasia syndrome 'Ulna metaphyseal dysplasia syndrome' SubClassOf 'Multiple metaphyseal dysplasia' 'Ulna metaphyseal dysplasia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1836 Mesomelic dysplasia, Kantaputra type 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dysplasia, Kantaputra type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1851 Multicystic dysplastic kidney 'Multicystic dysplastic kidney' SubClassOf 'familial cystic renal disease' 'Multicystic dysplastic kidney' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Multicystic dysplastic kidney' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1850 Renal dysplasia - megalocystis - sirenomelia 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf 'Syndromic urogenital tract malformation' 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf 'Genetic renal or urinary tract malformation' 'Renal dysplasia - megalocystis - sirenomelia' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_1848 Bilateral renal agenesis 'Bilateral renal agenesis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Bilateral renal agenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1849 Infundibulopelvic stenosis - multicystic kidney 'Infundibulopelvic stenosis - multicystic kidney' SubClassOf 'Syndromic renal or urinary tract malformation' 'Infundibulopelvic stenosis - multicystic kidney' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder due to single gene mutation' 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_399808 Male infertility with teratozoospermia due to single gene mutation 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder due to single gene mutation' 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79062 Disorder of amino acid and other organic acid metabolism 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'inborn errors of metabolism' 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_1801 Kyphomelic dysplasia 'Kyphomelic dysplasia' SubClassOf 'Bent bone dysplasia' 'Kyphomelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0000535 Sparse and thin eyebrow 'Sparse and thin eyebrow' SubClassOf 'Abnormality of the face' 'Sparse and thin eyebrow' SubClassOf 'Abnormality of the integument' 'Sparse and thin eyebrow' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314822 Primary renal tubular acidosis 'Primary renal tubular acidosis' SubClassOf 'renal tubule disease' 'Primary renal tubular acidosis' SubClassOf 'Genetic renal tubular disease' 'Primary renal tubular acidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289586 Exfoliative ichthyosis 'Exfoliative ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Exfoliative ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1811 Odontomicronychial dysplasia 'Odontomicronychial dysplasia' SubClassOf 'Syndromic nail anomaly' 'Odontomicronychial dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1812 Ectodermal dysplasia - intellectual disability - central nervous system malformation 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'Rare genetic skin disease' 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_1810 Autosomal dominant hypohidrotic ectodermal dysplasia 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'Ectodermal dysplasia syndrome' 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1809 Hidrotic ectodermal dysplasia, Halal type 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'Ectodermal dysplasia syndrome' 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1806 Ectodermal dysplasia - blindness 'Ectodermal dysplasia - blindness' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - blindness' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ectodermal dysplasia - blindness' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1807 Focal facial dermal dysplasia type III 'Focal facial dermal dysplasia type III' SubClassOf 'Focal facial dermal dysplasia' 'Focal facial dermal dysplasia type III' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1804 Dyssegmental dysplasia - glaucoma 'Dyssegmental dysplasia - glaucoma' SubClassOf 'Non-syndromic developmental defect of the eye' 'Dyssegmental dysplasia - glaucoma' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1802 Ghosal hematodiaphyseal dysplasia 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system')) 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'hematologic disease' 'Ghosal hematodiaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1803 Thoracomelic dysplasia 'Thoracomelic dysplasia' SubClassOf 'Short rib dysplasia' 'Thoracomelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000500 Psammomatous Meningioma 'Psammomatous Meningioma' SubClassOf 'Meningioma' 'Psammomatous Meningioma' SubClassOf 'has_disease_location' some 'meninx' 'Psammomatous Meningioma' SubClassOf 'meningeal neoplasm' http://www.orpha.net/ORDO/Orphanet_324290 Early-onset Lafora body disease 'Early-onset Lafora body disease' SubClassOf 'Progressive myoclonic epilepsy' 'Early-onset Lafora body disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000505 Rectal Tubulovillous Adenoma 'Rectal Tubulovillous Adenoma' SubClassOf 'rectum adenoma' 'Rectal Tubulovillous Adenoma' SubClassOf 'rectum adenoma' http://www.ebi.ac.uk/efo/EFO_1000506 Rectal Villous Adenoma 'Rectal Villous Adenoma' SubClassOf 'rectum adenoma' 'Rectal Villous Adenoma' SubClassOf 'rectum adenoma' http://www.orpha.net/ORDO/Orphanet_289527 Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289522 Microtriplication 11q24.1 'Microtriplication 11q24.1' SubClassOf 'Partial duplication of the long arm of chromosome 11' 'Microtriplication 11q24.1' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microtriplication 11q24.1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79091 Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'Inclusion myopathy' 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'Genetic skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0008610 blue color blindness 'blue color blindness' SubClassOf 'color vision disorder' 'blue color blindness' SubClassOf 'color vision disorder' http://www.ebi.ac.uk/efo/EFO_1000511 Rhabdoid Meningioma 'Rhabdoid Meningioma' SubClassOf 'Meningioma' 'Rhabdoid Meningioma' SubClassOf 'meningeal neoplasm' 'Rhabdoid Meningioma' SubClassOf 'has_disease_location' some 'meninx' http://www.orpha.net/ORDO/Orphanet_79095 Congenital bile acid synthesis defect type 4 'Congenital bile acid synthesis defect type 4' SubClassOf 'Peroxisomal disease' 'Congenital bile acid synthesis defect type 4' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_79094 Grange syndrome 'Grange syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Grange syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Grange syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79097 Folinic acid-responsive seizures 'Folinic acid-responsive seizures' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Folinic acid-responsive seizures' SubClassOf 'Neurometabolic disease' 'Folinic acid-responsive seizures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79096 Pyridoxal phosphate-responsive seizures 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Neurometabolic disease' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Disorder of pyridoxine metabolism' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Pyridoxal phosphate-responsive seizures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008627 ureter cancer 'ureter cancer' SubClassOf 'ureteral neoplasm' 'ureter cancer' SubClassOf 'ureteral neoplasm' http://purl.obolibrary.org/obo/MONDO_0008622 tricho-retino-dento-digital syndrome 'tricho-retino-dento-digital syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'tricho-retino-dento-digital syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_1000522 Secretory Meningioma 'Secretory Meningioma' SubClassOf 'Meningioma' 'Secretory Meningioma' SubClassOf 'meningeal neoplasm' 'Secretory Meningioma' SubClassOf 'has_disease_location' some 'meninx' http://www.orpha.net/ORDO/Orphanet_180079 Pseudounicornuate uterus 'Pseudounicornuate uterus' SubClassOf 'Unilateral aplasia of the Müllerian ducts' 'Pseudounicornuate uterus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000525 Simple Endometrial Hyperplasia 'Simple Endometrial Hyperplasia' SubClassOf 'endometrial hyperplasia' 'Simple Endometrial Hyperplasia' SubClassOf 'endometrial hyperplasia' http://www.orpha.net/ORDO/Orphanet_79084 Familial partial lipodystrophy, Köbberling type 'Familial partial lipodystrophy, Köbberling type' SubClassOf 'Familial partial lipodystrophy' 'Familial partial lipodystrophy, Köbberling type' SubClassOf 'genetic lipodystrophy' 'Familial partial lipodystrophy, Köbberling type' SubClassOf 'Genetic subcutaneous tissue disorder' 'Familial partial lipodystrophy, Köbberling type' SubClassOf 'Rare genetic endocrine disease' http://purl.obolibrary.org/obo/MONDO_0021605 benign eyelid neoplasm 'benign eyelid neoplasm' SubClassOf 'eyelid neoplasm' 'benign eyelid neoplasm' SubClassOf 'eyelid neoplasm' http://www.orpha.net/ORDO/Orphanet_79085 Familial partial lipodystrophy due to AKT2 mutations 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'Familial partial lipodystrophy' 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'genetic lipodystrophy' 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'Genetic subcutaneous tissue disorder' 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'Rare genetic endocrine disease' http://purl.obolibrary.org/obo/MONDO_0008638 varicose disease 'varicose disease' SubClassOf 'vein disorder' 'varicose disease' SubClassOf 'vein disorder' http://www.ebi.ac.uk/efo/EFO_1000532 small intestinal adenocarcinoma 'small intestinal adenocarcinoma' SubClassOf 'adenocarcinoma' 'small intestinal adenocarcinoma' SubClassOf 'small intestine carcinoma' 'small intestinal adenocarcinoma' SubClassOf 'adenocarcinoma' 'small intestinal adenocarcinoma' SubClassOf 'small intestine carcinoma' http://www.orpha.net/ORDO/Orphanet_79076 Juvenile polyposis of infancy 'Juvenile polyposis of infancy' SubClassOf 'Juvenile polyposis syndrome' 'Juvenile polyposis of infancy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008648 ventricular tachycardia, familial 'ventricular tachycardia, familial' SubClassOf 'ventricular tachycardia' 'ventricular tachycardia, familial' SubClassOf 'ventricular tachycardia' http://www.ebi.ac.uk/efo/EFO_1000543 Spinal Chordoma 'Spinal Chordoma' SubClassOf 'Chordoma' 'Spinal Chordoma' SubClassOf 'Genetic bone tumor' http://www.ebi.ac.uk/efo/EFO_1000544 Spinal Cord Astrocytoma 'Spinal Cord Astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'Spinal Cord Astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'retinal vascular disorder' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'retinal vascular disorder' http://www.ebi.ac.uk/efo/EFO_1000540 Soft Tissue Chondroma 'Soft Tissue Chondroma' SubClassOf 'benign soft tissue neoplasm' 'Soft Tissue Chondroma' SubClassOf 'benign soft tissue neoplasm' http://www.ebi.ac.uk/efo/EFO_0002759 methylation profiling by array 'methylation profiling by array' SubClassOf 'assay by array' http://www.ebi.ac.uk/efo/EFO_1000546 Spindle Cell Melanoma 'Spindle Cell Melanoma' SubClassOf 'melanoma' 'Spindle Cell Melanoma' SubClassOf 'melanoma' http://www.ebi.ac.uk/efo/EFO_1000555 Submandibular Gland Adenoid Cystic Carcinoma 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'submandibular gland cancer' 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'submandibular gland cancer' http://www.orpha.net/ORDO/Orphanet_300298 Severe congenital hypochromic anemia with ringed sideroblasts 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'Constitutional sideroblastic anemia' 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_180074 True unicornuate uterus 'True unicornuate uterus' SubClassOf 'Unilateral aplasia of the Müllerian ducts' 'True unicornuate uterus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300293 Transient infantile hypertriglyceridemia and hepatosteatosis 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'Genetic parenchymatous liver disease' 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_92050 Intestinal epithelial dysplasia 'Intestinal epithelial dysplasia' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' http://www.ebi.ac.uk/efo/EFO_0002770 transcription profiling by high throughput sequencing 'transcription profiling by high throughput sequencing' SubClassOf 'RNA assay' 'transcription profiling by high throughput sequencing' SubClassOf 'assay by high throughput sequencer' http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease 'von Hippel-Lindau disease' SubClassOf 'eye disease' 'von Hippel-Lindau disease' SubClassOf 'genetic central nervous system and retinal vascular disease' 'von Hippel-Lindau disease' SubClassOf 'inherited renal cancer-predisposing syndrome' 'von Hippel-Lindau disease' SubClassOf 'developmental defect during embryogenesis' 'von Hippel-Lindau disease' SubClassOf 'multiple polyglandular tumor' 'von Hippel-Lindau disease' SubClassOf 'familial cystic renal disease' 'von Hippel-Lindau disease' SubClassOf 'neurocutaneous syndrome' 'von Hippel-Lindau disease' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'von Hippel-Lindau disease' SubClassOf 'neurocutaneous syndrome' 'von Hippel-Lindau disease' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000566 Testicular Germ Cell Tumor 'Testicular Germ Cell Tumor' SubClassOf 'neoplasm of testis' 'Testicular Germ Cell Tumor' SubClassOf 'neoplasm of testis' http://www.ebi.ac.uk/efo/EFO_0002771 genotyping by high throughput sequencing 'genotyping by high throughput sequencing' SubClassOf 'DNA assay' 'genotyping by high throughput sequencing' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0002774 assay by mass spectrometry 'assay by mass spectrometry' EquivalentTo 'has_participant' some 'mass spectrometer' http://www.ebi.ac.uk/efo/EFO_1000562 Tenosynovial Giant Cell Tumor 'Tenosynovial Giant Cell Tumor' DisjointWith 'pigmented villonodular synovitis' http://purl.obolibrary.org/obo/MONDO_0008660 autosomal dominant hypophosphatemic rickets 'autosomal dominant hypophosphatemic rickets' SubClassOf 'autosomal dominant disease' 'autosomal dominant hypophosphatemic rickets' SubClassOf 'autosomal dominant disease' 'autosomal dominant hypophosphatemic rickets' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800096 http://www.ebi.ac.uk/efo/EFO_1000560 T-Cell Prolymphocytic Leukemia 'T-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' 'T-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' http://www.orpha.net/ORDO/Orphanet_289504 Combined malonic and methylmalonic acidemia 'Combined malonic and methylmalonic acidemia' SubClassOf 'Classic organic aciduria' 'Combined malonic and methylmalonic acidemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021631 brain astrocytoma 'brain astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'brain astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' http://purl.obolibrary.org/obo/MONDO_0008679 Wilms tumor 1 'Wilms tumor 1' SubClassOf 'hereditary Wilms tumor' 'Wilms tumor 1' SubClassOf 'hereditary Wilms tumor' http://purl.obolibrary.org/obo/MONDO_0008678 Williams syndrome 'Williams syndrome' SubClassOf 'syndromic intellectual disability' 'Williams syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0002761 methylation profiling by high throughput sequencing 'methylation profiling by high throughput sequencing' SubClassOf 'assay by sequencer' 'methylation profiling by high throughput sequencing' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0002760 ChIP-chip by array 'ChIP-chip by array' SubClassOf 'assay by array' http://www.ebi.ac.uk/efo/EFO_0002762 ChIP-chip by tiling array 'ChIP-chip by tiling array' SubClassOf 'assay by array' http://purl.obolibrary.org/obo/MONDO_0008673 acrofacial dysostosis, Weyers type 'acrofacial dysostosis, Weyers type' SubClassOf 'ectodermal dysplasia syndrome' 'acrofacial dysostosis, Weyers type' SubClassOf 'ectodermal dysplasia syndrome' 'acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://www.ebi.ac.uk/efo/EFO_0002765 proteomic profiling by array 'proteomic profiling by array' SubClassOf 'assay by array' 'proteomic profiling by array' SubClassOf 'protein assay' http://www.ebi.ac.uk/efo/EFO_0002764 ChIP-chip by SNP array 'ChIP-chip by SNP array' SubClassOf 'assay by array' http://www.ebi.ac.uk/efo/EFO_0002767 genotyping by array 'genotyping by array' SubClassOf 'assay by array' 'genotyping by array' SubClassOf 'DNA assay' http://www.ebi.ac.uk/efo/EFO_0002766 proteomic profiling by mass spectrometer 'proteomic profiling by mass spectrometer' SubClassOf 'protein assay' 'proteomic profiling by mass spectrometer' SubClassOf 'assay by mass spectrometry' http://www.ebi.ac.uk/efo/EFO_0002769 transcription profiling by tiling array 'transcription profiling by tiling array' SubClassOf 'assay by array' 'transcription profiling by tiling array' SubClassOf 'RNA assay' http://www.ebi.ac.uk/efo/EFO_0002768 transcription profiling by array 'transcription profiling by array' SubClassOf 'RNA assay' 'transcription profiling by array' SubClassOf 'assay by array' http://purl.obolibrary.org/obo/MONDO_0021633 cerebral astrocytoma 'cerebral astrocytoma' SubClassOf 'brain astrocytoma' 'cerebral astrocytoma' SubClassOf 'neoplasm of cerebral hemisphere' 'cerebral astrocytoma' SubClassOf 'brain astrocytoma' 'cerebral astrocytoma' SubClassOf 'neoplasm of cerebral hemisphere' http://purl.obolibrary.org/obo/MONDO_0021661 coronary atherosclerosis 'coronary atherosclerosis' SubClassOf 'atherosclerosis' 'coronary atherosclerosis' SubClassOf 'coronary artery disease' 'coronary atherosclerosis' SubClassOf 'atherosclerosis' 'coronary atherosclerosis' SubClassOf 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0021663 sarcomatoid squamous cell carcinoma 'sarcomatoid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'sarcomatoid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0008688 WT limb-blood syndrome 'WT limb-blood syndrome' SubClassOf 'inherited aplastic anemia' 'WT limb-blood syndrome' SubClassOf 'inherited aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0008684 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic intellectual disability' 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0021653 cutaneous focal mucinosis 'cutaneous focal mucinosis' SubClassOf 'cutaneous mucinosis' 'cutaneous focal mucinosis' SubClassOf 'cutaneous mucinosis' http://purl.obolibrary.org/obo/MONDO_0008699 achalasia microcephaly syndrome 'achalasia microcephaly syndrome' SubClassOf 'autosomal recessive disease' 'achalasia microcephaly syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0006037 hydrolethalus syndrome 'hydrolethalus syndrome' SubClassOf 'autosomal recessive disease' 'hydrolethalus syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008694 pseudoprogeria syndrome 'pseudoprogeria syndrome' SubClassOf 'syndromic intellectual disability' 'pseudoprogeria syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0021659 combined carcinoid and adenocarcinoma 'combined carcinoid and adenocarcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease 'sexually transmitted disease' SubClassOf 'infectious disease' 'sexually transmitted disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0002690 systemic lupus erythematosus 'systemic lupus erythematosus' SubClassOf 'lupus erythematosus' 'systemic lupus erythematosus' SubClassOf 'lupus erythematosus' http://www.ebi.ac.uk/efo/EFO_0002697 assay by high throughput sequencer 'assay by high throughput sequencer' EquivalentTo 'has_participant' some 'high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0002696 assay by array 'assay by array' EquivalentTo 'has_participant' some 'array' http://www.ebi.ac.uk/efo/EFO_0002686 atopy 'atopy' SubClassOf 'allergic disease' 'atopy' SubClassOf 'allergic disease' http://www.ebi.ac.uk/efo/EFO_0002689 antiphospholipid syndrome 'antiphospholipid syndrome' SubClassOf 'hypersensitivity reaction disease' 'antiphospholipid syndrome' SubClassOf 'syndromic disease' 'antiphospholipid syndrome' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0021678 gram-negative bacterial infections 'gram-negative bacterial infections' SubClassOf 'bacterial disease' 'gram-negative bacterial infections' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0021679 gram-positive bacterial infections 'gram-positive bacterial infections' SubClassOf 'bacterial disease' 'gram-positive bacterial infections' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0018052 hypoplastic tibiae-postaxial polydactyly syndrome 'hypoplastic tibiae-postaxial polydactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'hypoplastic tibiae-postaxial polydactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0018044 idiopathic hypersomnia 'idiopathic hypersomnia' SubClassOf 'hypersomnia' 'idiopathic hypersomnia' SubClassOf 'hypersomnia' http://www.orpha.net/ORDO/Orphanet_157794 Hereditary mixed polyposis syndrome 'Hereditary mixed polyposis syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Hereditary mixed polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Hereditary mixed polyposis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018054 familial atrial fibrillation 'familial atrial fibrillation' SubClassOf 'atrial fibrillation' 'familial atrial fibrillation' SubClassOf 'atrial fibrillation' http://www.orpha.net/ORDO/Orphanet_157798 Hyperplastic polyposis syndrome 'Hyperplastic polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Hyperplastic polyposis syndrome' SubClassOf 'hyperplasia' 'Hyperplastic polyposis syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Hyperplastic polyposis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018070 familial multiple fibrofolliculoma 'familial multiple fibrofolliculoma' SubClassOf 'inherited skin tumor' 'familial multiple fibrofolliculoma' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0018067 triploidy 'triploidy' SubClassOf 'polyploidy' 'triploidy' SubClassOf 'polyploidy' http://www.orpha.net/ORDO/Orphanet_169796 Moderately severe hemophilia B 'Moderately severe hemophilia B' SubClassOf 'Hemophilia B' 'Moderately severe hemophilia B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169793 Severe hemophilia B 'Severe hemophilia B' SubClassOf 'Hemophilia B' 'Severe hemophilia B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169799 Mild hemophilia B 'Mild hemophilia B' SubClassOf 'Hemophilia B' 'Mild hemophilia B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018096 Weill-Marchesani syndrome 'Weill-Marchesani syndrome' SubClassOf 'syndromic disease' 'Weill-Marchesani syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_69735 Hypotrichosis - lymphedema - telangiectasia 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'Syndromic lymphedema' 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0018095 Weaver-Williams syndrome 'Weaver-Williams syndrome' SubClassOf 'syndromic intellectual disability' 'Weaver-Williams syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000094 B-cell acute lymphoblastic leukemia 'B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_314918 Mild Canavan disease 'Mild Canavan disease' SubClassOf 'Canavan disease' 'Mild Canavan disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_157769 Situs ambiguus 'Situs ambiguus' SubClassOf 'Genetic cardiac anomaly' 'Situs ambiguus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Metabolic myopathy' 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Exercise intolerance with lactic acidosis' 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_31112 Dermatofibrosarcoma protuberans 'Dermatofibrosarcoma protuberans' SubClassOf 'Skin Sarcoma' 'Dermatofibrosarcoma protuberans' SubClassOf 'genetic skin disease' 'Dermatofibrosarcoma protuberans' SubClassOf 'inherited soft tissue tumor' 'Dermatofibrosarcoma protuberans' SubClassOf 'Genetic soft tissue tumor' 'Dermatofibrosarcoma protuberans' SubClassOf 'Genetic skin tumor' 'Dermatofibrosarcoma protuberans' SubClassOf 'fibrosarcoma' 'Dermatofibrosarcoma protuberans' SubClassOf 'hereditary disorder of connective tissue' 'Dermatofibrosarcoma protuberans' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69723 Tyrosinemia type 3 'Tyrosinemia type 3' SubClassOf 'Disorder of tyrosine metabolism' 'Tyrosinemia type 3' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' http://www.orpha.net/ORDO/Orphanet_314911 Severe Canavan disease 'Severe Canavan disease' SubClassOf 'Canavan disease' 'Severe Canavan disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_157719 Juvenile or adult CACH syndrome 'Juvenile or adult CACH syndrome' SubClassOf 'CACH syndrome' 'Juvenile or adult CACH syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_157716 Late infantile CACH syndrome 'Late infantile CACH syndrome' SubClassOf 'CACH syndrome' 'Late infantile CACH syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1866 Focal, segmental or multifocal dystonia 'Focal, segmental or multifocal dystonia' SubClassOf 'Isolated dystonia' 'Focal, segmental or multifocal dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1867 Bullous dystrophy, macular type 'Bullous dystrophy, macular type' SubClassOf 'X-linked syndromic intellectual disability' 'Bullous dystrophy, macular type' SubClassOf 'Other genetic epidermal disease' 'Bullous dystrophy, macular type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1865 Dyssegmental dysplasia, Silverman-Handmaker type 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Perlecan-related bone disorder' 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_1860 Thanatophoric dysplasia type 1 'Thanatophoric dysplasia type 1' SubClassOf 'Thanatophoric dysplasia' 'Thanatophoric dysplasia type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79107 Developmental malformations - deafness - dystonia 'Developmental malformations - deafness - dystonia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Developmental malformations - deafness - dystonia' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_79102 Thyrotoxic periodic paralysis 'Thyrotoxic periodic paralysis' SubClassOf 'peripheral neuropathy' 'Thyrotoxic periodic paralysis' SubClassOf 'myopathy' 'Thyrotoxic periodic paralysis' SubClassOf 'has_disease_location' some 'skeletal muscle organ' 'Thyrotoxic periodic paralysis' SubClassOf 'skeletal system disease' 'Thyrotoxic periodic paralysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79101 Hyperprolinemia type 2 'Hyperprolinemia type 2' SubClassOf 'Disorder of proline metabolism' 'Hyperprolinemia type 2' SubClassOf 'Neurometabolic disease' 'Hyperprolinemia type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79100 Atrophoderma vermiculata 'Atrophoderma vermiculata' SubClassOf 'Keratosis pilaris atrophicans' 'Atrophoderma vermiculata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_31154 Hypobetalipoproteinemia 'Hypobetalipoproteinemia' SubClassOf 'Rare hypolipidemia' 'Hypobetalipoproteinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1878 Autosomal recessive limb-girdle muscular dystrophy type 2H 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'Qualitative or quantitative defects of TRIM32' 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_31153 Hypoalphalipoproteinemia 'Hypoalphalipoproteinemia' SubClassOf 'Rare hypolipidemia' 'Hypoalphalipoproteinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1875 Congenital muscular dystrophy - infantile cataract - hypogonadism 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_1876 Oculogastrointestinal muscular dystrophy 'Oculogastrointestinal muscular dystrophy' SubClassOf 'Ptosis' 'Oculogastrointestinal muscular dystrophy' SubClassOf 'Congenital intestinal motility disorder' 'Oculogastrointestinal muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1871 Progressive cone dystrophy 'Progressive cone dystrophy' SubClassOf 'Genetic macular dystrophy' 'Progressive cone dystrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_157713 Congenital or early infantile CACH syndrome 'Congenital or early infantile CACH syndrome' SubClassOf 'CACH syndrome' 'Congenital or early infantile CACH syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1884 Ectopia lentis - chorioretinal dystrophy - myopia 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Lens position anomaly' 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Genetic lens and zonula anomaly' http://www.orpha.net/ORDO/Orphanet_1885 Isolated ectopia lentis 'Isolated ectopia lentis' SubClassOf 'Marfan and Marfan-related disorder' 'Isolated ectopia lentis' SubClassOf 'Lens position anomaly' 'Isolated ectopia lentis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1882 Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Syndromic hypothyroidism' 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Rare hypothyroidism' 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1883 Ectodermal dysplasia - sensorineural deafness 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1879 Melorheostosis with osteopoikilosis 'Melorheostosis with osteopoikilosis' SubClassOf 'Osteopetrosis' 'Melorheostosis with osteopoikilosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002342 chondromalacia 'chondromalacia' SubClassOf 'articular cartilage disorder' 'chondromalacia' SubClassOf 'articular cartilage disorder' http://purl.obolibrary.org/obo/MONDO_0002345 cervicitis 'cervicitis' SubClassOf 'cervix disorder' 'cervicitis' SubClassOf 'cervix disorder' http://www.ebi.ac.uk/efo/EFO_0005268 serum zinc measurement 'serum zinc measurement' SubClassOf (('is_about' some 'liver disease') or ('is_about' some 'kidney disease') or ('is_about' some 'Disorder of zinc metabolism')) or ('is_about' some 'Zinc deficiency') http://purl.obolibrary.org/obo/MONDO_0002358 laryngeal carcinoma 'laryngeal carcinoma' SubClassOf 'carcinoma' 'laryngeal carcinoma' SubClassOf 'Malignant Laryngeal Neoplasm' 'laryngeal carcinoma' SubClassOf 'carcinoma' 'laryngeal carcinoma' SubClassOf 'Malignant Laryngeal Neoplasm' http://www.ebi.ac.uk/efo/EFO_0005252 orthostatic hypotension 'orthostatic hypotension' SubClassOf 'hypotension' 'orthostatic hypotension' SubClassOf 'hypotension' http://purl.obolibrary.org/obo/MONDO_0002353 glottis neoplasm 'glottis neoplasm' SubClassOf 'laryngeal neoplasm' 'glottis neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002354 benign laryngeal neoplasm 'benign laryngeal neoplasm' SubClassOf 'laryngeal neoplasm' 'benign laryngeal neoplasm' SubClassOf 'respiratory system benign neoplasm' 'benign laryngeal neoplasm' SubClassOf 'laryngeal neoplasm' 'benign laryngeal neoplasm' SubClassOf 'respiratory system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002355 glottis carcinoma 'glottis carcinoma' SubClassOf 'glottis cancer' 'glottis carcinoma' SubClassOf 'laryngeal carcinoma' 'glottis carcinoma' SubClassOf 'glottis cancer' 'glottis carcinoma' SubClassOf 'laryngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome 'familial nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'familial nephrotic syndrome' SubClassOf 'nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0002351 glottis cancer 'glottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' 'glottis cancer' SubClassOf 'glottis neoplasm' 'glottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' 'glottis cancer' SubClassOf 'glottis neoplasm' http://purl.obolibrary.org/obo/MONDO_0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 'intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'syndromic intellectual disability' 'intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014347 short stature with microcephaly and distinctive facies 'short stature with microcephaly and distinctive facies' SubClassOf 'genetic disorder' 'short stature with microcephaly and distinctive facies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800063 http://purl.obolibrary.org/obo/MONDO_0002376 spleen angiosarcoma 'spleen angiosarcoma' SubClassOf 'spleen cancer' 'spleen angiosarcoma' SubClassOf 'angiosarcoma' 'spleen angiosarcoma' SubClassOf 'spleen cancer' 'spleen angiosarcoma' SubClassOf 'angiosarcoma' http://www.ebi.ac.uk/efo/EFO_0005279 temporomandibular joint disorder 'temporomandibular joint disorder' SubClassOf 'joint disease' 'temporomandibular joint disorder' SubClassOf 'head disorder' 'temporomandibular joint disorder' SubClassOf 'joint disease' 'temporomandibular joint disorder' SubClassOf 'head disorder' http://purl.obolibrary.org/obo/MONDO_0014368 melanoma, cutaneous malignant, susceptibility to, 10 'melanoma, cutaneous malignant, susceptibility to, 10' SubClassOf 'familial melanoma' 'melanoma, cutaneous malignant, susceptibility to, 10' SubClassOf 'familial 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 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0002397 liver sarcoma 'liver sarcoma' SubClassOf 'liver cancer' 'liver sarcoma' SubClassOf 'liver cancer' http://www.ebi.ac.uk/efo/EFO_0005297 Granulomatosis with Polyangiitis 'Granulomatosis with Polyangiitis' SubClassOf 'glomerulonephritis' 'Granulomatosis with Polyangiitis' SubClassOf 'glomerulonephritis' 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 'syndromic intellectual disability' 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014382 tall stature-intellectual disability-facial dysmorphism syndrome 'tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 'tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014386 platelet-type bleeding disorder 18 'platelet-type bleeding disorder 18' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 18' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_207107 Qualitative or quantitative defects of TRIM32 'Qualitative or quantitative defects of TRIM32' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of TRIM32' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207101 Qualitative or quantitative defects of perlecan 'Qualitative or quantitative defects of perlecan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of perlecan' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207104 Qualitative or quantitative defects of calpain 'Qualitative or quantitative defects of calpain' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of calpain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207119 Qualitative or quantitative defects of FKRP 'Qualitative or quantitative defects of FKRP' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of FKRP' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative defects of alpha-dystroglycan' 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207110 Qualitative or quantitative defects of myotubularin 'Qualitative or quantitative defects of myotubularin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of myotubularin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207122 Qualitative or quantitative defects of fukutin 'Qualitative or quantitative defects of fukutin' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of fukutin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_281082 Inherited non-syndromic ichthyosis 'Inherited non-syndromic ichthyosis' SubClassOf 'Inherited ichthyosis' 'Inherited non-syndromic ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_281085 Inherited ichthyosis syndromic form 'Inherited ichthyosis syndromic form' SubClassOf 'Inherited ichthyosis' 'Inherited ichthyosis syndromic form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_281097 Autosomal recessive congenital ichthyosis 'Autosomal recessive congenital ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Autosomal recessive congenital ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163927 Pustulosis palmaris et plantaris 'Pustulosis palmaris et plantaris' SubClassOf 'Unclassified genetic skin disorder' 'Pustulosis palmaris et plantaris' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53689 Congenital chloride diarrhea 'Congenital chloride diarrhea' SubClassOf 'Congenital intestinal transport defect' 'Congenital chloride diarrhea' SubClassOf 'Genetic intestinal disease' http://www.orpha.net/ORDO/Orphanet_53698 Hyaline body myopathy 'Hyaline body myopathy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'Hyaline body myopathy' SubClassOf 'Congenital myopathy' 'Hyaline body myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53696 Lethal arthrogryposis - anterior horn cell disease 'Lethal arthrogryposis - anterior horn cell disease' SubClassOf 'Arthrogryposis multiplex congenita' 'Lethal arthrogryposis - anterior horn cell disease' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_53697 Gnathodiaphyseal dysplasia 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Gnathodiaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53690 Congenital lactase deficiency 'Congenital lactase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Congenital lactase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Congenital lactase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53691 Congenital cornea plana 'Congenital cornea plana' SubClassOf 'Rare hyperopia and astigmatism' 'Congenital cornea plana' SubClassOf 'corneal disease' 'Congenital cornea plana' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65683 Isolated focal cortical dysplasia 'Isolated focal cortical dysplasia' SubClassOf 'Cerebral cortical dysplasia' 'Isolated focal cortical dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65682 Benign recurrent intrahepatic cholestasis 'Benign recurrent intrahepatic cholestasis' SubClassOf 'Familial intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Benign recurrent intrahepatic cholestasis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_364055 Severe early-childhood-onset retinal dystrophy 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'Retinal dystrophy' 'Severe early-childhood-onset retinal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90695 Panhypopituitarism 'Panhypopituitarism' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Panhypopituitarism' SubClassOf 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' 'Panhypopituitarism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect 'Double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'Double outlet right ventricle' 'Double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99045 Double outlet right ventricle with subpulmonary ventricular septal defect 'Double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'Double outlet right ventricle' 'Double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99047 Double outlet right ventricle with doubly committed ventricular septal defect 'Double outlet right ventricle with doubly committed ventricular septal defect' SubClassOf 'Double outlet right ventricle' 'Double outlet right ventricle with doubly committed ventricular septal defect' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_99042 Congenitally uncorrected transposition of the great arteries with coarctation 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'Congenitally uncorrected transposition of the great arteries' 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99044 Double outlet right ventricle with subaortic ventricular septal defect 'Double outlet right ventricle with subaortic ventricular septal defect' SubClassOf 'Double outlet right ventricle' 'Double outlet right ventricle with subaortic ventricular septal defect' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0002404 liver hemangioma 'liver hemangioma' SubClassOf 'intra-abdominal hemangioma' 'liver hemangioma' SubClassOf 'intra-abdominal hemangioma' http://www.ebi.ac.uk/efo/EFO_0005204 bulimia nervosa 'bulimia nervosa' SubClassOf 'eating disorder' 'bulimia nervosa' SubClassOf 'eating disorder' http://www.ebi.ac.uk/efo/EFO_0005207 congenital heart disease 'congenital heart disease' SubClassOf 'congenital anomaly of cardiovascular system' 'congenital heart disease' SubClassOf 'heart disease' 'congenital heart disease' SubClassOf 'congenital anomaly of cardiovascular system' 'congenital heart disease' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0002405 hepatic vascular disorder 'hepatic vascular disorder' SubClassOf 'vascular disease' 'hepatic vascular disorder' SubClassOf 'liver disease' 'hepatic vascular disorder' SubClassOf 'vascular disease' 'hepatic vascular disorder' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0002406 dermatitis 'dermatitis' SubClassOf 'skin disease' 'dermatitis' SubClassOf 'inflammatory disease' 'dermatitis' SubClassOf 'skin disease' 'dermatitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0002407 capillary hemangioma 'capillary hemangioma' SubClassOf 'hemangioma' 'capillary hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I 'glycogen storage disease I' SubClassOf 'glycogen storage disease' 'glycogen storage disease I' SubClassOf 'glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_51084 Torsade-de-pointes syndrome with short coupling interval 'Torsade-de-pointes syndrome with short coupling interval' SubClassOf 'Genetic cardiac rhythm disease' 'Torsade-de-pointes syndrome with short coupling interval' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_51083 Familial short QT syndrome 'Familial short QT syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Familial short QT syndrome' SubClassOf 'Rare genetic cardiac disease' http://purl.obolibrary.org/obo/MONDO_0002416 ethmoid sinus squamous cell carcinoma 'ethmoid sinus squamous cell carcinoma' SubClassOf 'ethmoid sinus cancer' 'ethmoid sinus squamous cell carcinoma' SubClassOf 'ethmoid sinus cancer' http://purl.obolibrary.org/obo/MONDO_0002423 rectosigmoid junction neoplasm 'rectosigmoid junction neoplasm' SubClassOf 'sigmoid neoplasm' 'rectosigmoid junction neoplasm' SubClassOf 'sigmoid neoplasm' http://www.orpha.net/ORDO/Orphanet_90650 Otopalatodigital syndrome type 1 'Otopalatodigital syndrome type 1' SubClassOf 'otopalatodigital syndrome' 'Otopalatodigital syndrome type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005223 acute stress reaction 'acute stress reaction' SubClassOf 'anxiety disorder' 'acute stress reaction' SubClassOf 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_0005220 pulmonary neuroendocrine tumor 'pulmonary neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'pulmonary neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_90652 Otopalatodigital syndrome type 2 'Otopalatodigital syndrome type 2' SubClassOf 'otopalatodigital syndrome' 'Otopalatodigital syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0020858 spastic paraplegia 84, autosomal recessive 'spastic paraplegia 84, autosomal recessive' SubClassOf 'Hereditary spastic paraplegia' 'spastic paraplegia 84, autosomal recessive' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0005225 human african trypanosomiasis 'human african trypanosomiasis' SubClassOf 'trypanosomiasis' 'human african trypanosomiasis' SubClassOf 'trypanosomiasis' http://purl.obolibrary.org/obo/MONDO_0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome 'tall stature-scoliosis-macrodactyly of the great toes syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 http://purl.obolibrary.org/obo/MONDO_0002427 cerebellar disorder 'cerebellar disorder' SubClassOf 'brain disease' 'cerebellar disorder' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0002429 idiopathic interstitial pneumonia 'idiopathic interstitial pneumonia' SubClassOf 'pneumonia' 'idiopathic interstitial pneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0005219 TraDIS sequencing 'TraDIS sequencing' SubClassOf 'experimental process' 'TraDIS sequencing' SubClassOf 'assay by high throughput sequencer' 'TraDIS sequencing' SubClassOf 'DNA assay' http://www.ebi.ac.uk/efo/EFO_0005217 cervical adenocarcinoma cell line 'cervical adenocarcinoma cell line' SubClassOf 'cervical cancer cell line' http://www.ebi.ac.uk/efo/EFO_0005218 cervical carcinoma cell line 'cervical carcinoma cell line' SubClassOf 'cancer cell line' 'cervical carcinoma cell line' SubClassOf 'cervical cancer cell line' http://www.orpha.net/ORDO/Orphanet_99002 Reticular dystrophy of the retinal pigment epithelium 'Reticular dystrophy of the retinal pigment epithelium' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Reticular dystrophy of the retinal pigment epithelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99001 Butterfly-shaped pigment dystrophy 'Butterfly-shaped pigment dystrophy' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Butterfly-shaped pigment dystrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_99004 Fundus pulverulentus 'Fundus pulverulentus' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Fundus pulverulentus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99003 Multifocal pattern dystrophy simulating fundus flavimaculatus 'Multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014413 orofaciodigital syndrome type 14 'orofaciodigital syndrome type 14' SubClassOf 'syndromic intellectual disability' 'orofaciodigital syndrome type 14' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'Genetic macular dystrophy' 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005240 rhegmatogenous retinal detachment 'rhegmatogenous retinal detachment' SubClassOf 'retinal detachment' 'rhegmatogenous retinal detachment' SubClassOf 'retinal detachment' http://www.orpha.net/ORDO/Orphanet_90674 Isolated thyroid-stimulating hormone deficiency 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'Central congenital hypothyroidism' 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Isolated thyroid-stimulating hormone deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90673 Hypothyroidism due to TSH receptor mutations 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'Primary congenital hypothyroidism without thyroid developmental anomaly' 'Hypothyroidism due to TSH receptor mutations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005246 hypersomnia 'hypersomnia' SubClassOf 'sleep-wake disorder' 'hypersomnia' SubClassOf 'sleep-wake disorder' http://www.orpha.net/ORDO/Orphanet_99013 Autosomal recessive spastic paraplegia type 7 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_99015 Spastic paraplegia type 2 'Spastic paraplegia type 2' SubClassOf 'Pure or complex X-linked spastic paraplegia' 'Spastic paraplegia type 2' SubClassOf 'Leukodystrophy' 'Spastic paraplegia type 2' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'autosomal dominant disease' 'Treacher-Collins syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0002459 type IV hypersensitivity disease 'type IV hypersensitivity disease' SubClassOf 'hypersensitivity reaction disease' 'type IV hypersensitivity disease' SubClassOf 'hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0002454 thyroid adenoma 'thyroid adenoma' SubClassOf 'adenoma' 'thyroid adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0002450 prostatic adenoma 'prostatic adenoma' SubClassOf 'adenoma' 'prostatic adenoma' SubClassOf 'benign neoplasm of prostate' 'prostatic adenoma' SubClassOf 'adenoma' 'prostatic adenoma' SubClassOf 'benign neoplasm of prostate' http://www.orpha.net/ORDO/Orphanet_99027 Adult-onset autosomal dominant leukodystrophy 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Leukodystrophy' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Partial trisomy of the long arm of chromosome 5' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Rare genetic neurological disorder' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0002225 ovarian sarcoma 'ovarian sarcoma' SubClassOf 'ovarian cancer' 'ovarian sarcoma' SubClassOf 'ovarian cancer' http://purl.obolibrary.org/obo/MONDO_0004884 eye degenerative disorder 'eye degenerative disorder' SubClassOf 'eye disease' 'eye degenerative disorder' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0004885 choroidal sclerosis 'choroidal sclerosis' SubClassOf 'eye degenerative disorder' 'choroidal sclerosis' SubClassOf 'optic choroid disorder' 'choroidal sclerosis' SubClassOf 'eye degenerative disorder' 'choroidal sclerosis' SubClassOf 'optic choroid disorder' http://purl.obolibrary.org/obo/MONDO_0004880 bowel dysfunction 'bowel dysfunction' SubClassOf 'intestinal disease' 'bowel dysfunction' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease 'tooth hard tissue disease' SubClassOf 'tooth disease' 'tooth hard tissue disease' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 'severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome' SubClassOf 'syndromic intellectual disability' 'severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0002229 ovarian epithelial tumor 'ovarian epithelial tumor' SubClassOf 'ovarian neoplasm' 'ovarian epithelial tumor' SubClassOf 'ovarian neoplasm' http://purl.obolibrary.org/obo/MONDO_0002232 nasal cavity disorder 'nasal cavity disorder' SubClassOf 'upper respiratory tract disorder' 'nasal cavity disorder' SubClassOf 'nasal disorder' 'nasal cavity disorder' SubClassOf 'upper respiratory tract disorder' 'nasal cavity disorder' SubClassOf 'nasal disorder' http://purl.obolibrary.org/obo/MONDO_0002233 enamel caries 'enamel caries' SubClassOf 'dental caries' 'enamel caries' SubClassOf 'dental caries' http://purl.obolibrary.org/obo/MONDO_0002234 vaginitis 'vaginitis' SubClassOf 'vaginal disorder' 'vaginitis' SubClassOf 'vaginal disorder' http://purl.obolibrary.org/obo/MONDO_0004891 hyperopia 'hyperopia' SubClassOf 'refractive error' 'hyperopia' SubClassOf 'refractive error' http://purl.obolibrary.org/obo/MONDO_0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0002249 thrombocytosis disease 'thrombocytosis disease' SubClassOf 'blood platelet disease' 'thrombocytosis disease' SubClassOf 'blood platelet disease' http://purl.obolibrary.org/obo/MONDO_0002245 blood platelet disease 'blood platelet disease' SubClassOf 'hematologic disease' 'blood platelet disease' SubClassOf 'hematologic disease' http://www.orpha.net/ORDO/Orphanet_207049 Qualitative or quantitative protein defects in neuromuscular diseases 'Qualitative or quantitative protein defects in neuromuscular diseases' SubClassOf 'Genetic neuromuscular disease' 'Qualitative or quantitative protein defects in neuromuscular diseases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014225 hemochromatosis type 5 'hemochromatosis type 5' SubClassOf 'hereditary hemochromatosis' 'hemochromatosis type 5' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0002258 pharyngitis 'pharyngitis' SubClassOf 'inflammatory disease' 'pharyngitis' SubClassOf 'upper respiratory tract disorder' 'pharyngitis' SubClassOf 'inflammatory disease' 'pharyngitis' SubClassOf 'upper respiratory tract disorder' http://purl.obolibrary.org/obo/MONDO_0002256 cervix disorder 'cervix disorder' SubClassOf 'uterine disorder' 'cervix disorder' SubClassOf 'uterine disorder' http://purl.obolibrary.org/obo/MONDO_0002257 ankylosis 'ankylosis' SubClassOf 'joint disease' 'ankylosis' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 'severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_207052 Qualitative or quantitative defects of sarcoglycan 'Qualitative or quantitative defects of sarcoglycan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of sarcoglycan' SubClassOf 'Genetic neuromuscular disease' http://www.ebi.ac.uk/efo/EFO_0005187 C-peptide measurement 'C-peptide measurement' SubClassOf 'is_about' some ('Multiple endocrine neoplasia' and ('has_role' some 'biomarker')) http://purl.obolibrary.org/obo/MONDO_0002260 hidradenitis 'hidradenitis' SubClassOf 'inflammatory disease' 'hidradenitis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_207067 Qualitative or quantitative defects of gamma-sarcoglycan 'Qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207060 Qualitative or quantitative defects of alpha-sarcoglycan 'Qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207063 Qualitative or quantitative defects of beta-sarcoglycan 'Qualitative or quantitative defects of beta-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of beta-sarcoglycan' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002277 arteriosclerosis disorder 'arteriosclerosis disorder' SubClassOf 'arterial disorder' 'arteriosclerosis disorder' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0002278 benign colon neoplasm 'benign colon neoplasm' SubClassOf 'benign neoplasm of large intestine' 'benign colon neoplasm' SubClassOf 'benign neoplasm of large intestine' http://purl.obolibrary.org/obo/MONDO_0002279 iron metabolism disease 'iron metabolism disease' SubClassOf 'mineral metabolism disease' 'iron metabolism disease' SubClassOf 'mineral metabolism disease' http://www.orpha.net/ORDO/Orphanet_207070 Qualitative or quantitative defects of delta-sarcoglycan 'Qualitative or quantitative defects of delta-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of delta-sarcoglycan' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207078 Qualitative or quantitative defects of caveolin-3 'Qualitative or quantitative defects of caveolin-3' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of caveolin-3' SubClassOf 'Genetic neuromuscular disease' http://www.orpha.net/ORDO/Orphanet_207073 Qualitative or quantitative defects of dysferlin 'Qualitative or quantitative defects of dysferlin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of dysferlin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002289 iris disorder 'iris disorder' SubClassOf 'uveal disorder' 'iris disorder' SubClassOf 'uveal disorder' http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy 'neuroaxonal dystrophy' SubClassOf 'neurodegenerative disease' 'neuroaxonal dystrophy' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease 'renal artery disease' SubClassOf 'kidney disease' 'renal artery disease' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0002280 anemia 'anemia' SubClassOf 'hematologic disease' 'anemia' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0002281 macrocytic anemia 'macrocytic anemia' SubClassOf 'anemia' 'macrocytic anemia' SubClassOf 'anemia' http://www.orpha.net/ORDO/Orphanet_207085 Qualitative or quantitative defects of dystrophin 'Qualitative or quantitative defects of dystrophin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of dystrophin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002297 epidermal appendage tumor 'epidermal appendage tumor' SubClassOf 'skin neoplasm' 'epidermal appendage tumor' SubClassOf 'skin neoplasm' http://www.orpha.net/ORDO/Orphanet_207090 Qualitative or quantitative defects of collagen 6 'Qualitative or quantitative defects of collagen 6' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of collagen 6' SubClassOf 'Genetic neuromuscular disease' http://www.orpha.net/ORDO/Orphanet_207098 Qualitative or quantitative defects of integrin alpha-7 'Qualitative or quantitative defects of integrin alpha-7' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of integrin alpha-7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207094 Qualitative or quantitative defects of merosin 'Qualitative or quantitative defects of merosin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of merosin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014273 microcephaly-thin corpus callosum-intellectual disability syndrome 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_364063 Infantile epileptic-dyskinetic encephalopathy 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'ARX-related epileptic encephalopathy' 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'Persistent combined dystonia' 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014289 macrocephaly-developmental delay syndrome 'macrocephaly-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' 'macrocephaly-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_163746 Neurologic Waardenburg-Shah syndrome 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Syndromic intestinal malformation' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Leukodystrophy' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Rare genetic neurological disorder' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_391665 Homozygous familial hypercholesterolemia 'Homozygous familial hypercholesterolemia' SubClassOf 'Rare hyperlipidemia' 'Homozygous familial hypercholesterolemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163721 Rolandic epilepsy - speech dyspraxia 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'Childhood-onset epilepsy syndrome' 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'Rare genetic epilepsy' http://www.orpha.net/ORDO/Orphanet_163717 Benign familial mesial temporal lobe epilepsy 'Benign familial mesial temporal lobe epilepsy' SubClassOf 'Familial partial epilepsy' 'Benign familial mesial temporal lobe epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163708 Cryptogenic late-onset epileptic spasms 'Cryptogenic late-onset epileptic spasms' SubClassOf 'Childhood-onset epilepsy syndrome' 'Cryptogenic late-onset epileptic spasms' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207015 Rare hereditary disease with peripheral neuropathy 'Rare hereditary disease with peripheral neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Rare hereditary disease with peripheral neuropathy' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_222628 Hereditary poikiloderma 'Hereditary poikiloderma' SubClassOf 'Genetic epidermal disorder' 'Hereditary poikiloderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163727 Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'Childhood-onset epilepsy syndrome' 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'Rare genetic epilepsy' http://www.orpha.net/ORDO/Orphanet_207012 Spinal muscular atrophy associated with central nervous system anomaly 'Spinal muscular atrophy associated with central nervous system anomaly' SubClassOf 'Bulbospinal muscular atrophy' 'Spinal muscular atrophy associated with central nervous system anomaly' SubClassOf 'Genetic motor neuron disease' http://www.orpha.net/ORDO/Orphanet_391711 Persistent combined dystonia 'Persistent combined dystonia' SubClassOf 'Combined dystonia' 'Persistent combined dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf 'Paroxysmal dystonia' 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf 'Rare genetic dystonia' 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf 'Rare paroxysmal movement disorder' http://purl.obolibrary.org/obo/MONDO_0004917 internal hordeolum 'internal hordeolum' SubClassOf 'hordeolum' 'internal hordeolum' SubClassOf 'hordeolum' http://purl.obolibrary.org/obo/MONDO_0004928 lymph node disorder 'lymph node disorder' SubClassOf 'lymphatic system disease' 'lymph node disorder' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/MONDO_0004943 orbit sarcoma 'orbit sarcoma' SubClassOf 'sarcoma' 'orbit sarcoma' SubClassOf 'orbital cancer' 'orbit sarcoma' SubClassOf 'sarcoma' 'orbit sarcoma' SubClassOf 'orbital cancer' http://purl.obolibrary.org/obo/MONDO_0004944 neurosyphilis 'neurosyphilis' SubClassOf 'tertiary syphilis' 'neurosyphilis' SubClassOf 'tertiary syphilis' http://purl.obolibrary.org/obo/MONDO_0002304 protein S deficiency 'protein S deficiency' SubClassOf 'thrombophilia' 'protein S deficiency' SubClassOf 'thrombophilia' http://purl.obolibrary.org/obo/MONDO_0002314 chronic conjunctivitis 'chronic conjunctivitis' SubClassOf 'conjunctivitis' 'chronic conjunctivitis' SubClassOf 'conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0004975 Alzheimer disease 'Alzheimer disease' SubClassOf 'dementia' 'Alzheimer disease' SubClassOf 'dementia' http://purl.obolibrary.org/obo/MONDO_0002316 motor peripheral neuropathy 'motor peripheral neuropathy' SubClassOf 'peripheral neuropathy' 'motor peripheral neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0002311 retinal vascular disorder 'retinal vascular disorder' SubClassOf 'retinopathy' 'retinal vascular disorder' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0002312 opportunistic mycosis 'opportunistic mycosis' SubClassOf 'fungal infectious disease' 'opportunistic mycosis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0002317 central nervous system origin vertigo 'central nervous system origin vertigo' SubClassOf 'brain disease' 'central nervous system origin vertigo' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0002319 phosphorus metabolism disease 'phosphorus metabolism disease' SubClassOf 'mineral metabolism disease' 'phosphorus metabolism disease' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0004986 urinary bladder carcinoma 'urinary bladder carcinoma' SubClassOf 'urinary bladder cancer' 'urinary bladder carcinoma' SubClassOf 'carcinoma' 'urinary bladder carcinoma' SubClassOf 'urinary bladder cancer' 'urinary bladder carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0002321 sensory peripheral neuropathy 'sensory peripheral neuropathy' SubClassOf 'peripheral neuropathy' 'sensory peripheral neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0002336 inflammatory and toxic neuropathy 'inflammatory and toxic neuropathy' SubClassOf 'peripheral neuropathy' 'inflammatory and toxic neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0002337 intra-abdominal hemangioma 'intra-abdominal hemangioma' SubClassOf 'hemangioma' 'intra-abdominal hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm 'hematopoietic and lymphoid system neoplasm' SubClassOf 'neoplasm' 'hematopoietic and lymphoid system neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0004768 keratoconjunctivitis 'keratoconjunctivitis' SubClassOf 'conjunctivitis' 'keratoconjunctivitis' SubClassOf 'keratitis' 'keratoconjunctivitis' SubClassOf 'conjunctivitis' 'keratoconjunctivitis' SubClassOf 'keratitis' http://purl.obolibrary.org/obo/MONDO_0002102 cheilitis 'cheilitis' SubClassOf 'lip disorder' 'cheilitis' SubClassOf 'lip disorder' http://purl.obolibrary.org/obo/MONDO_0002108 thyroid cancer 'thyroid cancer' SubClassOf 'thyroid neoplasm' 'thyroid cancer' SubClassOf 'thyroid neoplasm' http://purl.obolibrary.org/obo/MONDO_0002116 malignant exocrine pancreas neoplasm 'malignant exocrine pancreas neoplasm' SubClassOf 'pancreatic exocrine neoplasm' 'malignant exocrine pancreas neoplasm' SubClassOf 'pancreatic exocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0004777 acute laryngitis 'acute laryngitis' SubClassOf 'laryngitis' 'acute laryngitis' SubClassOf 'laryngitis' http://purl.obolibrary.org/obo/MONDO_0016757 malignant triton tumor 'malignant triton tumor' SubClassOf 'malignant peripheral nerve sheath tumor' 'malignant triton tumor' SubClassOf 'malignant peripheral nerve sheath tumor' http://purl.obolibrary.org/obo/MONDO_0016759 pontocerebellar hypoplasia type 2 'pontocerebellar hypoplasia type 2' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 2' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0016750 microcephaly-cleft palate syndrome 'microcephaly-cleft palate syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-cleft palate syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0004789 cholangitis 'cholangitis' SubClassOf 'inflammatory disease' 'cholangitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0002122 neuritis 'neuritis' SubClassOf 'peripheral neuropathy' 'neuritis' SubClassOf 'peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_391389 Familial episodic pain syndrome with predominantly upper body involvement 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'Familial episodic pain syndrome' 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002120 neuroendocrine carcinoma 'neuroendocrine carcinoma' SubClassOf 'neuroendocrine neoplasm' 'neuroendocrine carcinoma' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0014109 NGLY1-deficiency 'NGLY1-deficiency' SubClassOf 'inborn carbohydrate metabolic disorder' 'NGLY1-deficiency' SubClassOf 'genetic nervous system disorder' 'NGLY1-deficiency' SubClassOf 'glycoprotein metabolism disease' 'NGLY1-deficiency' SubClassOf 'syndromic intellectual disability' 'NGLY1-deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016763 spondylometaphyseal dysplasia 'spondylometaphyseal dysplasia' SubClassOf 'primary bone dysplasia' 'spondylometaphyseal dysplasia' SubClassOf 'genetic disorder' 'spondylometaphyseal dysplasia' SubClassOf 'primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_220386 Semilobar holoprosencephaly 'Semilobar holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Semilobar holoprosencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016760 microcephaly-microcornea syndrome, Seemanova type 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'syndromic intellectual disability' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'developmental defect of the eye' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'syndromic intellectual disability' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0016761 spondyloepiphyseal dysplasia 'spondyloepiphyseal dysplasia' SubClassOf 'primary bone dysplasia' 'spondyloepiphyseal dysplasia' SubClassOf 'primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_391397 Hereditary sensory and autonomic neuropathy type 7 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391392 Familial episodic pain syndrome with predominantly lower limb involvement 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'Familial episodic pain syndrome' 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002135 optic nerve disorder 'optic nerve disorder' SubClassOf 'cranial nerve neuropathy' 'optic nerve disorder' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0004790 fatty liver disease 'fatty liver disease' SubClassOf 'liver disease' 'fatty liver disease' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'syndromic intellectual disability' 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014128 TCF12-related craniosynostosis 'TCF12-related craniosynostosis' SubClassOf 'isolated brachycephaly' 'TCF12-related craniosynostosis' SubClassOf 'isolated plagiocephaly' 'TCF12-related craniosynostosis' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0014127 oculocutaneous albinism type 5 'oculocutaneous albinism type 5' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 5' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0016784 gestational trophoblastic disease 'gestational trophoblastic disease' EquivalentTo 'gestational trophoblastic neoplasm' or 'Hydatidiform Mole' 'gestational trophoblastic disease' SubClassOf 'trophoblastic neoplasm' 'gestational trophoblastic disease' SubClassOf 'pregnancy disorder' 'gestational trophoblastic disease' SubClassOf 'pregnancy disorder' http://purl.obolibrary.org/obo/MONDO_0002158 fallopian tube cancer 'fallopian tube cancer' SubClassOf 'fallopian tube neoplasm' 'fallopian tube cancer' SubClassOf 'Genital neoplasm, female' 'fallopian tube cancer' SubClassOf 'fallopian tube neoplasm' 'fallopian tube cancer' SubClassOf 'Genital neoplasm, female' http://www.orpha.net/ORDO/Orphanet_268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002165 rectal neoplasm 'rectal neoplasm' SubClassOf 'rectal disease' 'rectal neoplasm' SubClassOf 'rectal disease' http://www.orpha.net/ORDO/Orphanet_268322 Hereditary thrombocytopenia with normal platelets 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Hereditary thrombocytopenia with normal platelets' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002177 hyperinsulinism 'hyperinsulinism' SubClassOf 'endocrine pancreas disorder' 'hyperinsulinism' SubClassOf 'endocrine pancreas disorder' http://purl.obolibrary.org/obo/MONDO_0002175 degeneration of macula and posterior pole 'degeneration of macula and posterior pole' SubClassOf 'macular degeneration' 'degeneration of macula and posterior pole' SubClassOf 'macular degeneration' http://purl.obolibrary.org/obo/MONDO_0002171 giant cell tumor 'giant cell tumor' SubClassOf 'neoplasm' 'giant cell tumor' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0002172 otosalpingitis 'otosalpingitis' SubClassOf 'eustachian tube disease' 'otosalpingitis' SubClassOf 'eustachian tube disease' http://www.orpha.net/ORDO/Orphanet_209967 Episodic ataxia type 6 'Episodic ataxia type 6' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002187 vulvar disease 'vulvar disease' SubClassOf 'female reproductive system disease' 'vulvar disease' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0002181 exostosis 'exostosis' SubClassOf 'hyperostosis' 'exostosis' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'syndromic intellectual disability' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_209978 Alternating hemiplegia 'Alternating hemiplegia' SubClassOf 'Rare genetic neurological disorder' 'Alternating hemiplegia' SubClassOf 'hemiplegia' 'Alternating hemiplegia' SubClassOf 'genetic nervous system disorder' 'Alternating hemiplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209973 Benign familial nocturnal alternating hemiplegia of childhood 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'Alternating hemiplegia' 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209970 Episodic ataxia type 7 'Episodic ataxia type 7' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391343 Fatal post-viral neurodegenerative disorder 'Fatal post-viral neurodegenerative disorder' SubClassOf 'Genetic neurodegenerative disease' 'Fatal post-viral neurodegenerative disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'syndromic intellectual disability' 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 'mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive' SubClassOf 'mitochondrial DNA depletion syndrome' http://www.orpha.net/ORDO/Orphanet_391307 Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'Monogenic disease with epilepsy' 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'Infantile epilepsy syndrome' 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014196 Hartsfield-Bixler-Demyer syndrome 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'syndromic intellectual disability' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'syndromic intellectual disability' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800090 http://www.orpha.net/ORDO/Orphanet_51208 Formiminoglutamic aciduria 'Formiminoglutamic aciduria' SubClassOf 'Disorder of folate metabolism and transport' 'Formiminoglutamic aciduria' SubClassOf 'participates_in' some ('folic acid metabolic process' and ('has component' some 'abnormal')) 'Formiminoglutamic aciduria' SubClassOf 'vitamin metabolic disorder' 'Formiminoglutamic aciduria' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Formiminoglutamic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Neurometabolic disease' 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Disorder of asparagine metabolism' 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'Genetic renal tubular disease' 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391384 Familial episodic pain syndrome 'Familial episodic pain syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Familial episodic pain syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391381 Disorder of asparagine metabolism 'Disorder of asparagine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of asparagine metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'Neurometabolic disease' 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'Genetic parenchymatous liver disease' 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_317473 Pancytopenia due to IKZF1 mutations 'Pancytopenia due to IKZF1 mutations' SubClassOf 'Combined T and B cell immunodeficiency' 'Pancytopenia due to IKZF1 mutations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329466 Autosomal dominant focal dystonia, DYT25 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'Focal, segmental or multifocal dystonia' 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_329457 Distal arthrogryposis type 5D 'Distal arthrogryposis type 5D' SubClassOf 'Distal arthrogryposis' 'Distal arthrogryposis type 5D' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_89841 Centripetalis recessive dystrophic epidermolysis bullosa 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'Rare hyperlipidemia' 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'Disorder of bile acid synthesis' 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_89840 Junctional epidermolysis bullosa, non-Herlitz type 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Syndromic lymphedema' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Microlissencephaly' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_89843 Dystrophic epidermolysis bullosa pruriginosa 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_89842 Recessive dystrophic epidermolysis bullosa-generalized other 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'Dystrophic epidermolysis bullosa' 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209908 Childhood apraxia of speech 'Childhood apraxia of speech' SubClassOf 'Rare genetic neurological disorder' 'Childhood apraxia of speech' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209905 Brain-lung-thyroid syndrome 'Brain-lung-thyroid syndrome' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' 'Brain-lung-thyroid syndrome' SubClassOf 'Neurodegenerative disease with chorea' 'Brain-lung-thyroid syndrome' SubClassOf 'inherited epidermolysis bullosa' 'Brain-lung-thyroid syndrome' SubClassOf 'Syndromic hypothyroidism' 'Brain-lung-thyroid syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_89839 Epidermolysis bullosa simplex superficialis 'Epidermolysis bullosa simplex superficialis' SubClassOf 'Suprabasal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex superficialis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_89832 Syndromic lymphedema 'Syndromic lymphedema' SubClassOf 'Lymphedema' 'Syndromic lymphedema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99226 Monosomy X 'Monosomy X' SubClassOf 'Turner syndrome' 'Monosomy X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99228 Mosaic monosomy X 'Mosaic monosomy X' SubClassOf 'Turner syndrome' 'Mosaic monosomy X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_63273 Distal myopathy with posterior leg and anterior hand involvement 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_317430 Combined immunodeficiency due to STIM1 deficiency 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'Combined immunodeficiency due to CRAC channel dysfunction' 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391417 HSD10 disease 'HSD10 disease' SubClassOf 'Cerebral organic aciduria' 'HSD10 disease' SubClassOf 'Neurometabolic disease' 'HSD10 disease' SubClassOf 'Rare genetic neurological disorder' 'HSD10 disease' SubClassOf 'Organic aciduria' http://www.orpha.net/ORDO/Orphanet_209932 Cone dystrophy with supernormal rod response 'Cone dystrophy with supernormal rod response' SubClassOf 'Retinal dystrophy' 'Cone dystrophy with supernormal rod response' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391411 Atypical juvenile parkinsonism 'Atypical juvenile parkinsonism' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Atypical juvenile parkinsonism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75249 Familial isolated restrictive cardiomyopathy 'Familial isolated restrictive cardiomyopathy' SubClassOf 'Familial restrictive cardiomyopathy' 'Familial isolated restrictive cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005400 chemotherapy-induced alopecia 'chemotherapy-induced alopecia' SubClassOf 'Alopecia' 'chemotherapy-induced alopecia' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'Phenylketonuria' 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005407 psychosis 'psychosis' SubClassOf 'mental or behavioural disorder' 'psychosis' SubClassOf 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_317428 Combined immunodeficiency due to ORAI1 deficiency 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'Combined immunodeficiency due to CRAC channel dysfunction' 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209951 Autosomal recessive spastic paraplegia type 18 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_63260 Craniorachischisis 'Craniorachischisis' SubClassOf 'Neural tube closure defect' 'Craniorachischisis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_63261 HERNS syndrome 'HERNS syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'HERNS syndrome' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_317425 Severe combined immunodeficiency due to DNA-PKcs deficiency 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75234 Cholesteryl ester storage disease 'Cholesteryl ester storage disease' SubClassOf 'Lysosomal acid lipase deficiency' 'Cholesteryl ester storage disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_63259 Iniencephaly 'Iniencephaly' SubClassOf 'Neural tube closure defect' 'Iniencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004800 chronic dacryoadenitis 'chronic dacryoadenitis' SubClassOf 'dacryoadenitis' 'chronic dacryoadenitis' SubClassOf 'dacryoadenitis' http://www.orpha.net/ORDO/Orphanet_281238 Autosomal ichthyosis syndrome with prominent neurologics signs 'Autosomal ichthyosis syndrome with prominent neurologics signs' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with prominent neurologics signs' SubClassOf 'Genetic epidermal disorder' http://www.ebi.ac.uk/efo/EFO_0005425 language impairment 'language impairment' SubClassOf 'genetic nervous system disorder' 'language impairment' SubClassOf 'language disorder' http://www.orpha.net/ORDO/Orphanet_281241 Autosomal ichthyosis syndrome with fatal disease course 'Autosomal ichthyosis syndrome with fatal disease course' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with fatal disease course' SubClassOf 'Genetic epidermal disorder' http://www.orpha.net/ORDO/Orphanet_268261 21q22.13q22.2 microdeletion syndrome '21q22.13q22.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 21' '21q22.13q22.2 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0004804 dacryoadenitis 'dacryoadenitis' SubClassOf 'inflammatory disease' 'dacryoadenitis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_281244 Autosomal ichthyosis syndrome with other associated signs 'Autosomal ichthyosis syndrome with other associated signs' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with other associated signs' SubClassOf 'Genetic epidermal disorder' http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disorder 'leukocyte disorder' SubClassOf 'hematologic disease' 'leukocyte disorder' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0004812 acute dacryoadenitis 'acute dacryoadenitis' SubClassOf 'dacryoadenitis' 'acute dacryoadenitis' SubClassOf 'dacryoadenitis' http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis 'tooth agenesis' SubClassOf 'tooth disease' 'tooth agenesis' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0004822 bronchiectasis 'bronchiectasis' SubClassOf 'bronchial disease' 'bronchiectasis' SubClassOf 'bronchial disease' http://purl.obolibrary.org/obo/MONDO_0004821 nasopharyngeal disorder 'nasopharyngeal disorder' SubClassOf 'upper respiratory tract disorder' 'nasopharyngeal disorder' SubClassOf 'upper respiratory tract disorder' http://purl.obolibrary.org/obo/MONDO_0004830 fasciitis 'fasciitis' SubClassOf 'connective tissue disease' 'fasciitis' SubClassOf 'connective tissue disease' http://purl.obolibrary.org/obo/MONDO_0016814 maternally-inherited Leigh syndrome 'maternally-inherited Leigh syndrome' SubClassOf 'Leigh syndrome' 'maternally-inherited Leigh syndrome' SubClassOf 'Leigh syndrome' http://purl.obolibrary.org/obo/MONDO_0016828 autosomal recessive sideroblastic anemia 'autosomal recessive sideroblastic anemia' SubClassOf 'autosomal recessive disease' 'autosomal recessive sideroblastic anemia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis 'infantile myofibromatosis' SubClassOf 'inherited skin tumor' 'infantile myofibromatosis' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0004848 ulcerative stomatitis 'ulcerative stomatitis' SubClassOf 'stomatitis' 'ulcerative stomatitis' SubClassOf 'stomatitis' http://www.orpha.net/ORDO/Orphanet_281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004847 senile cataract 'senile cataract' SubClassOf 'cataract' 'senile cataract' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0041806 drug-resistant tuberculosis 'drug-resistant tuberculosis' SubClassOf 'tuberculosis' 'drug-resistant tuberculosis' SubClassOf 'tuberculosis' http://purl.obolibrary.org/obo/MONDO_0004867 upper respiratory tract disorder 'upper respiratory tract disorder' SubClassOf 'respiratory system disease' 'upper respiratory tract disorder' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0004863 purulent endophthalmitis 'purulent endophthalmitis' SubClassOf 'endophthalmitis' 'purulent endophthalmitis' SubClassOf 'endophthalmitis' http://www.orpha.net/ORDO/Orphanet_281217 Autosomal ichthyosis syndrome 'Autosomal ichthyosis syndrome' SubClassOf 'Inherited ichthyosis syndromic form' 'Autosomal ichthyosis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329481 Lipoprotein glomerulopathy 'Lipoprotein glomerulopathy' SubClassOf 'Primary glomerular disease' 'Lipoprotein glomerulopathy' SubClassOf 'Rare syndromic dyslipidemia' 'Lipoprotein glomerulopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004869 pelvic varices 'pelvic varices' SubClassOf 'varicose disease' 'pelvic varices' SubClassOf 'varicose disease' http://www.orpha.net/ORDO/Orphanet_281222 Autosomal ichthyosis syndrome with prominent hair abnormalities 'Autosomal ichthyosis syndrome with prominent hair abnormalities' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with prominent hair abnormalities' SubClassOf 'Genetic epidermal disorder' http://www.orpha.net/ORDO/Orphanet_329475 Spastic paraplegia - Paget disease of bone 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Primary bone dysplasia' 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_329478 Adult-onset distal myopathy due to VCP mutation 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'Autosomal dominant distal myopathy' 'Adult-onset distal myopathy due to VCP mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004647 in situ carcinoma 'in situ carcinoma' SubClassOf 'precancerous condition' 'in situ carcinoma' SubClassOf 'precancerous condition' http://purl.obolibrary.org/obo/MONDO_0004641 skin carcinoma in situ 'skin carcinoma in situ' SubClassOf 'in situ carcinoma' 'skin carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004643 myeloid leukemia 'myeloid leukemia' SubClassOf 'leukemia' 'myeloid leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0004640 alcoholic gastritis 'alcoholic gastritis' SubClassOf 'gastritis' 'alcoholic gastritis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0016621 juvenile Huntington disease 'juvenile Huntington disease' SubClassOf 'Huntington disease' 'juvenile Huntington disease' SubClassOf 'Huntington disease' http://purl.obolibrary.org/obo/MONDO_0004649 anaerobic pneumonia 'anaerobic pneumonia' SubClassOf 'bacterial pneumonia' 'anaerobic pneumonia' SubClassOf 'bacterial pneumonia' http://purl.obolibrary.org/obo/MONDO_0004657 disseminated chorioretinitis 'disseminated chorioretinitis' SubClassOf 'chorioretinitis' 'disseminated chorioretinitis' SubClassOf 'chorioretinitis' http://purl.obolibrary.org/obo/MONDO_0004658 breast carcinoma in situ 'breast carcinoma in situ' SubClassOf 'in situ carcinoma' 'breast carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004669 salivary gland cancer 'salivary gland cancer' SubClassOf 'Mixed Tumor of the Salivary Gland' 'salivary gland cancer' SubClassOf 'Mixed Tumor of the Salivary Gland' http://purl.obolibrary.org/obo/MONDO_0004663 colon carcinoma in situ 'colon carcinoma in situ' SubClassOf 'intestine carcinoma in situ' 'colon carcinoma in situ' SubClassOf 'intestine carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0002003 papilledema 'papilledema' SubClassOf 'optic nerve disorder' 'papilledema' SubClassOf 'optic nerve disorder' http://purl.obolibrary.org/obo/MONDO_0002000 anaerobic meningitis 'anaerobic meningitis' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic meningitis' SubClassOf 'bacterial meningitis' 'anaerobic meningitis' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic meningitis' SubClassOf 'bacterial meningitis' http://purl.obolibrary.org/obo/MONDO_0016648 multiple epiphyseal dysplasia 'multiple epiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' 'multiple epiphyseal dysplasia' SubClassOf 'genetic disorder' 'multiple epiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0016642 meningioma 'meningioma' SubClassOf 'meningeal neoplasm' 'meningioma' SubClassOf 'meningeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002009 major depressive disorder 'major depressive disorder' SubClassOf 'depressive disorder' 'major depressive disorder' SubClassOf 'depressive disorder' http://purl.obolibrary.org/obo/MONDO_0004678 dermatophytosis 'dermatophytosis' SubClassOf 'superficial mycosis' 'dermatophytosis' SubClassOf 'superficial mycosis' http://purl.obolibrary.org/obo/MONDO_0002012 methylmalonic acidemia 'methylmalonic acidemia' SubClassOf 'inherited organic acidemia' 'methylmalonic acidemia' SubClassOf 'inherited organic acidemia' http://purl.obolibrary.org/obo/MONDO_0004674 chorioretinitis 'chorioretinitis' SubClassOf 'uveitis' 'chorioretinitis' SubClassOf 'uveitis' http://purl.obolibrary.org/obo/MONDO_0004670 lupus erythematosus 'lupus erythematosus' SubClassOf 'type II hypersensitivity reaction disease' 'lupus erythematosus' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0004686 lattice corneal dystrophy 'lattice corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'lattice corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0014006 Schuurs-Hoeijmakers syndrome 'Schuurs-Hoeijmakers syndrome' SubClassOf 'syndromic intellectual disability' 'Schuurs-Hoeijmakers syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0004697 esophageal leukoplakia 'esophageal leukoplakia' SubClassOf 'leukoplakia' 'esophageal leukoplakia' SubClassOf 'esophageal disease' 'esophageal leukoplakia' SubClassOf 'leukoplakia' 'esophageal leukoplakia' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0002035 colon lymphoma 'colon lymphoma' SubClassOf 'malignant colon neoplasm' 'colon lymphoma' SubClassOf 'malignant colon neoplasm' http://purl.obolibrary.org/obo/MONDO_0004699 gastrointestinal lymphoma 'gastrointestinal lymphoma' SubClassOf 'lymphoma' 'gastrointestinal lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0002036 penile disorder 'penile disorder' SubClassOf 'male reproductive system disease' 'penile disorder' SubClassOf 'male reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0002037 pleural disorder 'pleural disorder' SubClassOf 'lower respiratory tract disease' 'pleural disorder' SubClassOf 'lower respiratory tract disease' http://purl.obolibrary.org/obo/MONDO_0004698 intestine carcinoma in situ 'intestine carcinoma in situ' SubClassOf 'in situ carcinoma' 'intestine carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004693 squamous carcinoma in situ 'squamous carcinoma in situ' SubClassOf 'in situ carcinoma' 'squamous carcinoma in situ' SubClassOf 'in situ carcinoma' http://www.orpha.net/ORDO/Orphanet_271853 Genetic cardiac anomaly 'Genetic cardiac anomaly' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Genetic cardiac anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002046 alcohol abuse 'alcohol abuse' SubClassOf 'substance abuse' 'alcohol abuse' SubClassOf 'substance abuse' http://www.orpha.net/ORDO/Orphanet_232288 Alpha-thalassemia-related diseases 'Alpha-thalassemia-related diseases' SubClassOf 'Alpha-thalassemia and related diseases' 'Alpha-thalassemia-related diseases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002041 fungal infectious disease 'fungal infectious disease' SubClassOf 'infectious disease' 'fungal infectious disease' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0002043 ectropion 'ectropion' SubClassOf 'eyelid disease' 'ectropion' SubClassOf 'eyelid disease' http://www.orpha.net/ORDO/Orphanet_99092 Interventricular septum aneurysm 'Interventricular septum aneurysm' SubClassOf 'Ventricular septal defect' 'Interventricular septum aneurysm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99095 Gerbode defect 'Gerbode defect' SubClassOf 'Ventricular septal defect' 'Gerbode defect' SubClassOf 'heart disease' 'Gerbode defect' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_99097 Single ventricular septal defect 'Single ventricular septal defect' SubClassOf 'Ventricular septal defect' 'Single ventricular septal defect' SubClassOf 'heart disease' 'Single ventricular septal defect' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_99096 Multiple ventricular septal defects 'Multiple ventricular septal defects' SubClassOf 'Ventricular septal defect' 'Multiple ventricular septal defects' SubClassOf 'heart disease' 'Multiple ventricular septal defects' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0002052 lymphadenitis 'lymphadenitis' SubClassOf 'lymph node disorder' 'lymphadenitis' SubClassOf 'inflammatory disease' 'lymphadenitis' SubClassOf 'lymph node disorder' 'lymphadenitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0002050 depressive disorder 'depressive disorder' SubClassOf 'mood disorder' 'depressive disorder' SubClassOf 'mood disorder' 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 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_220295 Xeroderma pigmentosum-Cockayne syndrome complex 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Syndromic retinitis pigmentosa' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Syndromic genetic deafness' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002078 heart septal defect 'heart septal defect' SubClassOf 'congenital heart disease' 'heart septal defect' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0002070 ventricular septal defect 'ventricular septal defect' SubClassOf 'heart septal defect' 'ventricular septal defect' SubClassOf 'heart septal defect' http://www.orpha.net/ORDO/Orphanet_209867 Autosomal dominant rhegmatogenous retinal detachment 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'has_disease_location' some 'retina' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'genetic nervous system disorder' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'Vitreoretinal degeneration' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'retinopathy' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002089 retinal vascular occlusion 'retinal vascular occlusion' SubClassOf 'retinal vascular disorder' 'retinal vascular occlusion' SubClassOf 'retinal vascular disorder' http://purl.obolibrary.org/obo/MONDO_0014070 oculocutaneous albinism type 7 'oculocutaneous albinism type 7' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 7' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0002087 peritoneum cancer 'peritoneum cancer' SubClassOf 'cancer' 'peritoneum cancer' SubClassOf 'peritoneal neoplasm' 'peritoneum cancer' SubClassOf 'cancer' 'peritoneum cancer' SubClassOf 'peritoneal neoplasm' http://purl.obolibrary.org/obo/MONDO_0014061 Steel syndrome 'Steel syndrome' SubClassOf 'genetic disorder' 'Steel syndrome' SubClassOf 'bone disease' 'Steel syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome 'short ulna-dysmorphism-hypotonia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'short ulna-dysmorphism-hypotonia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014080 osteosclerotic metaphyseal dysplasia 'osteosclerotic metaphyseal dysplasia' SubClassOf 'osteopetrosis' 'osteosclerotic metaphyseal dysplasia' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0014072 D,L-2-hydroxyglutaric aciduria 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://purl.obolibrary.org/obo/MONDO_0014078 platelet-type bleeding disorder 15 'platelet-type bleeding disorder 15' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 15' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_209886 Familial juvenile hyperuricemic nephropathy type 1 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'Disorder of purine metabolism' 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'Familial cystic renal disease' 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_41751 Bietti crystalline dystrophy 'Bietti crystalline dystrophy' SubClassOf 'Familial flecked retinopathy' 'Bietti crystalline dystrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_65743 Autosomal dominant multiple pterygium syndrome 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_163976 X-linked intellectual disability, Van Esch type 'X-linked intellectual disability, Van Esch type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Van Esch type' SubClassOf 'Rare disorder with hypergonadotropic hypogonadism' 'X-linked intellectual disability, Van Esch type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391474 Frontorhiny 'Frontorhiny' SubClassOf 'Frontonasal dysplasia' 'Frontorhiny' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65720 Arthrogryposis - severe scoliosis 'Arthrogryposis - severe scoliosis' SubClassOf 'Distal arthrogryposis' 'Arthrogryposis - severe scoliosis' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_53739 Distal hereditary motor neuropathy 'Distal hereditary motor neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Distal hereditary motor neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293181 Malignant migrating partial seizures of infancy 'Malignant migrating partial seizures of infancy' SubClassOf 'Channelopathy with epilepsy' 'Malignant migrating partial seizures of infancy' SubClassOf 'Neonatal epilepsy syndrome' 'Malignant migrating partial seizures of infancy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99103 Atrial septal defect, ostium secundum type 'Atrial septal defect, ostium secundum type' SubClassOf 'atrial septal defect 1' 'Atrial septal defect, ostium secundum type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99105 Atrial septal defect, sinus venosus type 'Atrial septal defect, sinus venosus type' SubClassOf 'atrial septal defect 1' 'Atrial septal defect, sinus venosus type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99104 Atrial septal defect, coronary sinus type 'Atrial septal defect, coronary sinus type' SubClassOf 'atrial septal defect 1' 'Atrial septal defect, coronary sinus type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99106 Atrial septal defect, ostium primum type 'Atrial septal defect, ostium primum type' SubClassOf 'atrial septal defect 1' 'Atrial septal defect, ostium primum type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293144 Familial clubfoot due to 5q31 microdeletion 'Familial clubfoot due to 5q31 microdeletion' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' 'Familial clubfoot due to 5q31 microdeletion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293150 Familial clubfoot due to PITX1 point mutation 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'Patellar dysostosis' 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' 'Familial clubfoot due to PITX1 point mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_51188 Ethylmalonic encephalopathy 'Ethylmalonic encephalopathy' SubClassOf 'Unspecified mitochondrial disorder' 'Ethylmalonic encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293168 Infantile-onset ascending hereditary spastic paralysis 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'Genetic motor neuron disease' 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_281190 Congenital reticular ichthyosiform erythroderma 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'Inherited non-syndromic ichthyosis' 'Congenital reticular ichthyosiform erythroderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005307 torsades de pointes 'torsades de pointes' SubClassOf 'ventricular tachycardia' 'torsades de pointes' SubClassOf 'ventricular tachycardia' http://www.ebi.ac.uk/efo/EFO_0005308 atrial tachycardia 'atrial tachycardia' SubClassOf 'cardiac rhythm disease' 'atrial tachycardia' SubClassOf 'cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_281122 Self-healing collodion baby 'Self-healing collodion baby' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Self-healing collodion baby' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268145 Classic maple syrup urine disease 'Classic maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Classic maple syrup urine disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_281127 Acral self-healing collodion baby 'Acral self-healing collodion baby' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Acral self-healing collodion baby' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0020926 noninfective encephalitis 'noninfective encephalitis' SubClassOf 'infectious encephalitis' http://www.orpha.net/ORDO/Orphanet_99169 Epiblepharon 'Epiblepharon' SubClassOf 'Eyelids malposition disorder' 'Epiblepharon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_281139 Annular epidermolytic ichthyosis 'Annular epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' 'Annular epidermolytic ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004700 parotid gland cancer 'parotid gland cancer' SubClassOf 'parotid neoplasm' 'parotid gland cancer' SubClassOf 'parotid neoplasm' http://www.ebi.ac.uk/efo/EFO_0005321 molar-incisor hypomineralization 'molar-incisor hypomineralization' SubClassOf 'head disorder' 'molar-incisor hypomineralization' SubClassOf 'head disorder' http://www.ebi.ac.uk/efo/EFO_0005320 contact dermatitis due to nickel 'contact dermatitis due to nickel' SubClassOf 'contact dermatitis' 'contact dermatitis due to nickel' SubClassOf 'contact dermatitis' http://www.orpha.net/ORDO/Orphanet_268129 Spheroid body myopathy 'Spheroid body myopathy' SubClassOf 'Myofibrillar myopathy' 'Spheroid body myopathy' SubClassOf 'Qualitative or quantitative defects of myotilin' 'Spheroid body myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99170 Tarsal kink syndrome 'Tarsal kink syndrome' SubClassOf 'Congenital entropion' 'Tarsal kink syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99172 Euryblepharon 'Euryblepharon' SubClassOf 'Congenital ectropion' 'Euryblepharon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99171 Isolated congenital ectropion 'Isolated congenital ectropion' SubClassOf 'Congenital ectropion' 'Isolated congenital ectropion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99176 Congenital eyelid retraction 'Congenital eyelid retraction' SubClassOf 'Congenital upper palpebral retraction' 'Congenital eyelid retraction' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004710 uterus carcinoma in situ 'uterus carcinoma in situ' SubClassOf 'in situ carcinoma' 'uterus carcinoma in situ' SubClassOf 'in situ carcinoma' http://www.orpha.net/ORDO/Orphanet_268114 RAS-associated autoimmune leukoproliferative disease 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'Inherited cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0004724 submandibular gland cancer 'submandibular gland cancer' SubClassOf 'submandibular gland neoplasm' 'submandibular gland cancer' SubClassOf 'submandibular gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0016707 astroblastoma 'astroblastoma' SubClassOf 'glioma' 'astroblastoma' SubClassOf 'glioma' http://www.orpha.net/ORDO/Orphanet_268184 Thiamine-responsive maple syrup urine disease 'Thiamine-responsive maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Thiamine-responsive maple syrup urine disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004727 vestibule of mouth cancer 'vestibule of mouth cancer' SubClassOf 'oral cavity cancer' 'vestibule of mouth cancer' SubClassOf 'oral cavity cancer' http://purl.obolibrary.org/obo/MONDO_0004730 speech disorder 'speech disorder' SubClassOf 'communication disorder' 'speech disorder' SubClassOf 'communication disorder' http://purl.obolibrary.org/obo/MONDO_0004731 central sleep apnea syndrome 'central sleep apnea syndrome' SubClassOf 'sleep apnea' 'central sleep apnea syndrome' SubClassOf 'sleep apnea' http://purl.obolibrary.org/obo/MONDO_0016719 microcephaly-seizures-intellectual disability-heart disease syndrome 'microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016712 classic medulloblastoma 'classic medulloblastoma' SubClassOf 'medulloblastoma' 'classic medulloblastoma' SubClassOf 'medulloblastoma' http://www.orpha.net/ORDO/Orphanet_268173 Intermittent maple syrup urine disease 'Intermittent maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Intermittent maple syrup urine disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90790 Congenital lipoid adrenal hyperplasia due to STAR deficency 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Non-acquired premature ovarian failure' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90797 Partial androgen insensitivity syndrome 'Partial androgen insensitivity syndrome' SubClassOf 'Androgen insensitivity syndrome' 'Partial androgen insensitivity syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004746 myopathy of extraocular muscle 'myopathy of extraocular muscle' SubClassOf 'myopathy' 'myopathy of extraocular muscle' SubClassOf 'skeletal muscle disorder' 'myopathy of extraocular muscle' SubClassOf 'myopathy' 'myopathy of extraocular muscle' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0004741 tyrosinemia 'tyrosinemia' SubClassOf 'disorder of tyrosine metabolism' 'tyrosinemia' SubClassOf 'disorder of tyrosine metabolism' http://www.orpha.net/ORDO/Orphanet_90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Rare male infertility due to adrenal disorder of genetic origin' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Non-acquired premature ovarian failure' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Rare male infertility due to adrenal disorder of genetic origin' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'Disorder of purine metabolism' 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268162 Intermediate maple syrup urine disease 'Intermediate maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Intermediate maple syrup urine disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004748 lip disorder 'lip disorder' SubClassOf 'mouth disease' 'lip disorder' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0004756 nasal cavity neoplasm 'nasal cavity neoplasm' SubClassOf 'nasal cavity disorder' 'nasal cavity neoplasm' SubClassOf 'head and neck neoplasia' 'nasal cavity neoplasm' SubClassOf 'nasal cavity disorder' 'nasal cavity neoplasm' SubClassOf 'head and neck neoplasia' http://www.orpha.net/ORDO/Orphanet_281103 Keratinopathic ichthyosis 'Keratinopathic ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratinopathic ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003083 pleomorphic liposarcoma 'pleomorphic liposarcoma' SubClassOf 'liposarcoma' 'pleomorphic liposarcoma' SubClassOf 'liposarcoma' http://www.ebi.ac.uk/efo/EFO_0003085 dedifferentiated liposarcoma 'dedifferentiated liposarcoma' SubClassOf 'liposarcoma' 'dedifferentiated liposarcoma' SubClassOf 'liposarcoma' http://www.ebi.ac.uk/efo/EFO_0003086 kidney disease 'kidney disease' SubClassOf 'urinary system disease' 'kidney disease' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0016516 Kenny-Caffey syndrome 'Kenny-Caffey syndrome' SubClassOf 'genetic disorder' 'Kenny-Caffey syndrome' SubClassOf 'syndromic disease' 'Kenny-Caffey syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016512 Kabuki syndrome 'Kabuki syndrome' SubClassOf 'syndromic intellectual disability' 'Kabuki syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0004557 congenital fibrosarcoma 'congenital fibrosarcoma' SubClassOf 'conventional fibrosarcoma' 'congenital fibrosarcoma' SubClassOf 'conventional fibrosarcoma' http://www.ebi.ac.uk/efo/EFO_0003095 non-alcoholic fatty liver disease 'non-alcoholic fatty liver disease' SubClassOf 'fatty liver disease' 'non-alcoholic fatty liver disease' SubClassOf 'fatty liver disease' http://purl.obolibrary.org/obo/MONDO_0016535 hypohidrotic ectodermal dysplasia 'hypohidrotic ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'hypohidrotic ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0004565 intestinal obstruction 'intestinal obstruction' SubClassOf 'intestinal disease' 'intestinal obstruction' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0004567 ileus 'ileus' SubClassOf 'intestinal obstruction' 'ileus' SubClassOf 'intestinal obstruction' http://purl.obolibrary.org/obo/MONDO_0004566 postgastrectomy syndrome 'postgastrectomy syndrome' SubClassOf 'functional gastric disease' 'postgastrectomy syndrome' SubClassOf 'functional gastric disease' http://purl.obolibrary.org/obo/MONDO_0004579 retinoschisis 'retinoschisis' SubClassOf 'retinal degeneration' 'retinoschisis' SubClassOf 'retinal degeneration' http://purl.obolibrary.org/obo/MONDO_0004573 ariboflavinosis 'ariboflavinosis' SubClassOf 'nutritional deficiency disease' 'ariboflavinosis' SubClassOf 'nutritional deficiency disease' http://purl.obolibrary.org/obo/MONDO_0016558 familial congenital mirror movements 'familial congenital mirror movements' SubClassOf 'movement disorder' 'familial congenital mirror movements' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_90153 Mandibuloacral dysplasia with type A lipodystrophy 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'Mandibuloacral dysplasia' 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004587 hereditary night blindness 'hereditary night blindness' SubClassOf 'night blindness' 'hereditary night blindness' SubClassOf 'night blindness' http://purl.obolibrary.org/obo/MONDO_0004586 rheumatoid lung disease 'rheumatoid lung disease' SubClassOf 'lung disease' 'rheumatoid lung disease' SubClassOf 'lung disease' http://www.orpha.net/ORDO/Orphanet_90154 Mandibuloacral dysplasia with type B lipodystrophy 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'Mandibuloacral dysplasia' 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004588 night blindness 'night blindness' SubClassOf 'retinopathy' 'night blindness' SubClassOf 'blindness (disorder)' 'night blindness' SubClassOf 'retinopathy' 'night blindness' SubClassOf 'blindness (disorder)' http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration 'retinal degeneration' SubClassOf 'retinopathy' 'retinal degeneration' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0016560 ptosis-syndactyly-learning difficulties syndrome 'ptosis-syndactyly-learning difficulties syndrome' SubClassOf 'syndromic intellectual disability' 'ptosis-syndactyly-learning difficulties syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0004593 Bartholin duct cyst 'Bartholin duct cyst' SubClassOf 'female reproductive system disease' 'Bartholin duct cyst' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0100390 acute myeloid leukemia, der12p 'acute myeloid leukemia, der12p' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100391 acute myeloid leukemia, t(2;12) 'acute myeloid leukemia, t(2;12)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100392 acute myeloid leukemia, t(11;17) 'acute myeloid leukemia, t(11;17)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100393 acute myeloid leukemia, t(8;16) 'acute myeloid leukemia, t(8;16)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100394 acute myeloid leukemia, t(1;22) 'acute myeloid leukemia, t(1;22)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100395 acute myeloid leukemia, t(5;11)(q35;p15) 'acute myeloid leukemia, t(5;11)(q35;p15)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100396 acute myeloid leukemia, t(7;12)(q36;p13) 'acute myeloid leukemia, t(7;12)(q36;p13)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100397 acute myeloid leukemia, t(9;22)(q34.1;q11.2) 'acute myeloid leukemia, t(9;22)(q34.1;q11.2)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100398 acute myeloid leukemia, inv(3)(q21.3;q26.2) 'acute myeloid leukemia, inv(3)(q21.3;q26.2)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100399 acute myeloid leukemia, t(3;3)(q21.3;q26.2) 'acute myeloid leukemia, t(3;3)(q21.3;q26.2)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100373 acute myeloid leukemia, inv(16)(p13.1;q22) 'acute myeloid leukemia, inv(16)(p13.1;q22)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100374 acute myeloid leukemia, t(16;16)(p13.1;q22) 'acute myeloid leukemia, t(16;16)(p13.1;q22)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100375 acute myeloid leukemia, t(15;17)(q24;q21) 'acute myeloid leukemia, t(15;17)(q24;q21)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100376 acute myeloid leukemia, t(9;11)(p21.3;q23.3) 'acute myeloid leukemia, t(9;11)(p21.3;q23.3)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100377 acute myeloid leukemia, t(10;11)(p12;q23) 'acute myeloid leukemia, t(10;11)(p12;q23)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100378 acute myeloid leukemia, t(10;11)(p11.2;q23) 'acute myeloid leukemia, t(10;11)(p11.2;q23)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100379 acute myeloid leukemia, t(1;11)(q21;q23) 'acute myeloid leukemia, t(1;11)(q21;q23)' SubClassOf 'inherited acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_31837 Pulmonary venoocclusive disease 'Pulmonary venoocclusive disease' SubClassOf 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' 'Pulmonary venoocclusive disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100380 acute myeloid leukemia, t(4;11)(q21;q23) 'acute myeloid leukemia, t(4;11)(q21;q23)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100381 acute myeloid leukemia, t(6;11)(q27;q23) 'acute myeloid leukemia, t(6;11)(q27;q23)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100382 acute myeloid leukemia, t(6;9)(p23;q34.1) 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100383 acute myeloid leukemia, t(11;19)(q23;p13) 'acute myeloid leukemia, t(11;19)(q23;p13)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100384 acute myeloid leukemia, t(11;19)(q23;p13.1) 'acute myeloid leukemia, t(11;19)(q23;p13.1)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100385 acute myeloid leukemia, t(11;19)(q23.3;p13.3) 'acute myeloid leukemia, t(11;19)(q23.3;p13.3)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100386 acute myeloid leukemia, t(v;11q23.3) 'acute myeloid leukemia, t(v;11q23.3)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100387 acute myeloid leukemia, Monosomy 7 'acute myeloid leukemia, Monosomy 7' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100388 acute myeloid leukemia, Monosomy 5 'acute myeloid leukemia, Monosomy 5' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100389 acute myeloid leukemia, Trisomy 8 'acute myeloid leukemia, Trisomy 8' SubClassOf 'inherited acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_158029 Sea-blue histiocytosis 'Sea-blue histiocytosis' SubClassOf 'Sphingolipidosis' 'Sea-blue histiocytosis' SubClassOf 'Lipid storage disease' http://www.orpha.net/ORDO/Orphanet_401859 Lipoic acid synthetase deficiency 'Lipoic acid synthetase deficiency' SubClassOf 'Lipoic acid biosynthesis defect' 'Lipoic acid synthetase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401854 Lipoic acid biosynthesis defect 'Lipoic acid biosynthesis defect' SubClassOf 'Mitochondrial disease' 'Lipoic acid biosynthesis defect' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Lipoic acid biosynthesis defect' SubClassOf 'Disorder of energy metabolism' http://www.orpha.net/ORDO/Orphanet_401849 Autosomal recessive spastic paraplegia type 72 'Autosomal recessive spastic paraplegia type 72' SubClassOf 'Autosomal recessive pure spastic paraplegia' 'Autosomal recessive spastic paraplegia type 72' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_401840 Autosomal recessive spastic paraplegia type 71 'Autosomal recessive spastic paraplegia type 71' SubClassOf 'Autosomal recessive pure spastic paraplegia' 'Autosomal recessive spastic paraplegia type 71' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352490 Autism spectrum disorder due to AUTS2 deficiency 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'Rare disease with autism' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401835 Autosomal recessive spastic paraplegia type 70 'Autosomal recessive spastic paraplegia type 70' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 70' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401830 Autosomal recessive spastic paraplegia type 69 'Autosomal recessive spastic paraplegia type 69' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 69' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401825 Autosomal recessive spastic paraplegia type 68 'Autosomal recessive spastic paraplegia type 68' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 68' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401820 Autosomal recessive spastic paraplegia type 67 'Autosomal recessive spastic paraplegia type 67' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 67' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100410 acute myeloid leukemia, t(16;21)(p11;q22) 'acute myeloid leukemia, t(16;21)(p11;q22)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100412 acute myeloid leukemia, monoallelic CEBPA gene mutation 'acute myeloid leukemia, monoallelic CEBPA gene mutation' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100413 acute myeloid leukemia, biallelic CEBPA gene mutation 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100414 acute myeloid leukemia, CEBPA gene mutation 'acute myeloid leukemia, CEBPA gene mutation' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100415 acute myeloid leukemia, FLT3 internal tandem duplication 'acute myeloid leukemia, FLT3 internal tandem duplication' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100416 acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation 'acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100417 acute myeloid leukemia, WT1 gene mutation 'acute myeloid leukemia, WT1 gene mutation' SubClassOf 'inherited acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005628 proctitis 'proctitis' SubClassOf 'inflammatory disease' 'proctitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0100418 acute myeloid leukemia, KIT exon 17 mutation 'acute myeloid leukemia, KIT exon 17 mutation' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100419 acute myeloid leukemia, KIT exon 8 mutation 'acute myeloid leukemia, KIT exon 8 mutation' SubClassOf 'inherited acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005611 opioid dependence 'opioid dependence' SubClassOf 'drug dependence' 'opioid dependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0005612 morphine dependence 'morphine dependence' SubClassOf 'opioid dependence' 'morphine dependence' SubClassOf 'opioid dependence' http://purl.obolibrary.org/obo/MONDO_0100420 acute myeloid leukemia, KIT gene mutation 'acute myeloid leukemia, KIT gene mutation' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100421 acute myeloid leukemia, GATA1 gene mutation 'acute myeloid leukemia, GATA1 gene mutation' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100422 acute myeloid leukemia, RUNX1 gene mutation 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100423 acute myeloid leukemia, PTPN11 gene mutation 'acute myeloid leukemia, PTPN11 gene mutation' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100424 acute myeloid leukemia, NRAS gene mutation 'acute myeloid leukemia, NRAS gene mutation' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100425 acute myeloid leukemia, KRAS gene mutation 'acute myeloid leukemia, KRAS gene mutation' SubClassOf 'inherited acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_401866 Spasticity-ataxia-gait anomalies syndrome 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Spastic ataxia' 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Lipoic acid biosynthesis defect' 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005631 rectal adenocarcinoma 'rectal adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'rectal adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_401862 Lipoyl transferase 1 deficiency 'Lipoyl transferase 1 deficiency' SubClassOf 'Lipoic acid biosynthesis defect' 'Lipoyl transferase 1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100400 acute myeloid leukemia, t(3;12)(q23;p12.3) 'acute myeloid leukemia, t(3;12)(q23;p12.3)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100401 acute myeloid leukemia, del(5q31-q32) 'acute myeloid leukemia, del(5q31-q32)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100402 acute myeloid leukemia, del(13q14-q21) 'acute myeloid leukemia, del(13q14-q21)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100403 acute myeloid leukemia, loss of chromosome 17p 'acute myeloid leukemia, loss of chromosome 17p' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100404 acute myeloid leukemia, MLL gene rearrangement 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100405 acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive 'acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100406 acute myeloid leukemia, inv(16)(p13.3;q24.3) 'acute myeloid leukemia, inv(16)(p13.3;q24.3)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100407 acute myeloid leukemia, t(11;15)(p15;q35) 'acute myeloid leukemia, t(11;15)(p15;q35)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100408 acute myeloid leukemia, t(16;21)(q24;q22) 'acute myeloid leukemia, t(16;21)(q24;q22)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100409 acute myeloid leukemia, t(3;5)(q25;q34) 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'inherited acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_55881 Adamantinoma 'Adamantinoma' SubClassOf 'carcinoma' 'Adamantinoma' SubClassOf 'Genetic bone tumor' 'Adamantinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293462 Pre-Descemet corneal dystrophy 'Pre-Descemet corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Pre-Descemet corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352403 Spectrin-associated autosomal recessive cerebellar ataxia 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'Early-onset ataxia with dementia' 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'Rare hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_77240 Primary lymphedema 'Primary lymphedema' SubClassOf 'Lymphedema' 'Primary lymphedema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005681 Staphylococcus aureus infection 'Staphylococcus aureus infection' SubClassOf 'staphylococcal skin infections' 'Staphylococcus aureus infection' SubClassOf 'staphylococcal skin infections' http://www.ebi.ac.uk/efo/EFO_0005672 acute coronary syndrome 'acute coronary syndrome' SubClassOf 'Myocardial Ischemia' 'acute coronary syndrome' SubClassOf 'Myocardial Ischemia' http://purl.obolibrary.org/obo/MONDO_0004600 monocytic leukemia 'monocytic leukemia' SubClassOf 'leukemia' 'monocytic leukemia' SubClassOf 'leukemia' http://www.ebi.ac.uk/efo/EFO_0003047 hepatitis C virus infection 'hepatitis C virus infection' SubClassOf 'viral human hepatitis infection' 'hepatitis C virus infection' SubClassOf 'viral human hepatitis infection' http://www.orpha.net/ORDO/Orphanet_352447 Progressive external ophthalmoplegia - myopathy - emaciation 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'Mitochondrial DNA maintenance syndrome' 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.ebi.ac.uk/efo/EFO_0003030 abscess 'abscess' SubClassOf 'infectious disease' 'abscess' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_352456 Mitochondrial DNA maintenance syndrome 'Mitochondrial DNA maintenance syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial DNA maintenance syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004617 recurrent hypersomnia 'recurrent hypersomnia' SubClassOf 'sleep-wake disorder' 'recurrent hypersomnia' SubClassOf 'sleep-wake disorder' http://purl.obolibrary.org/obo/MONDO_0004618 diplegia of upper limb 'diplegia of upper limb' SubClassOf 'nervous system disease' 'diplegia of upper limb' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0016607 odontohypophosphatasia 'odontohypophosphatasia' SubClassOf 'hypophosphatasia' 'odontohypophosphatasia' SubClassOf 'hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0016603 citrullinemia type II 'citrullinemia type II' SubClassOf 'citrin deficiency' 'citrullinemia type II' SubClassOf 'citrin deficiency' http://www.orpha.net/ORDO/Orphanet_53296 Familial cutaneous collagenoma 'Familial cutaneous collagenoma' SubClassOf 'Genetic dermis elastic tissue disorder' 'Familial cutaneous collagenoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_77261 Gaucher disease type 3 'Gaucher disease type 3' SubClassOf 'Neurometabolic disease' 'Gaucher disease type 3' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0004627 duodenitis 'duodenitis' SubClassOf 'duodenal disorder' 'duodenitis' SubClassOf 'duodenal disorder' http://www.orpha.net/ORDO/Orphanet_77260 Gaucher disease type 2 'Gaucher disease type 2' SubClassOf 'Neurometabolic disease' 'Gaucher disease type 2' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0004634 vein disorder 'vein disorder' SubClassOf 'vascular disease' 'vein disorder' SubClassOf 'vascular disease' http://www.orpha.net/ORDO/Orphanet_65287 Beta-ureidopropionase deficiency 'Beta-ureidopropionase deficiency' SubClassOf 'Neurometabolic disease' 'Beta-ureidopropionase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' 'Beta-ureidopropionase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65286 3q29 microdeletion syndrome '3q29 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' '3q29 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_65288 Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Neonatal diabetes mellitus' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Rare genetic diabetes mellitus' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'perinatal disease' http://www.orpha.net/ORDO/Orphanet_65284 Biotin-responsive basal ganglia disease 'Biotin-responsive basal ganglia disease' SubClassOf 'Neurometabolic disease' 'Biotin-responsive basal ganglia disease' SubClassOf 'genetic nervous system disorder' 'Biotin-responsive basal ganglia disease' SubClassOf 'Disorder of thiamine metabolism and transport' 'Biotin-responsive basal ganglia disease' SubClassOf 'basal ganglia disease' 'Biotin-responsive basal ganglia disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_77258 Trichorhinophalangeal syndrome type 1 and 3 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'Trichorhinophalangeal syndrome' 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'Rare genetic skin disease' 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_352479 Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'inborn errors of metabolism' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Genetic skeletal muscle disease' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_352470 Mitochondrial DNA deletion syndrome with progressive myopathy 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004403 childhood precursor T-lymphoblastic lymphoma/leukemia 'childhood precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'childhood cancer' 'childhood precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'childhood cancer' http://www.orpha.net/ORDO/Orphanet_220489 Rare hereditary hemochromatosis 'Rare hereditary hemochromatosis' SubClassOf 'Disorder of iron metabolism and transport' 'Rare hereditary hemochromatosis' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Rare hereditary hemochromatosis' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0004427 supraglottis neoplasm 'supraglottis neoplasm' SubClassOf 'laryngeal neoplasm' 'supraglottis neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma 'hereditary breast carcinoma' SubClassOf 'genetic disorder' 'hereditary breast carcinoma' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_90026 Primary erythermalgia 'Primary erythermalgia' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Primary erythermalgia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90023 Primary immunodeficiency syndrome due to p14 deficiency 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90025 Syndactyly 'Syndactyly' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'Syndactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90024 Deafness with labyrinthine aplasia, microtia, and microdontia 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'Syndromic genetic deafness' 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome 'dysmorphism-short stature-deafness-disorder of sex development syndrome' SubClassOf 'syndromic intellectual disability' 'dysmorphism-short stature-deafness-disorder of sex development syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_90030 Hemolytic anemia due to glutathione reductase deficiency 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90039 Hemoglobin D disease 'Hemoglobin D disease' SubClassOf 'Hemoglobinopathy' 'Hemoglobin D disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016446 acquired cutis laxa 'acquired cutis laxa' SubClassOf 'cutis laxa' 'acquired cutis laxa' SubClassOf 'cutis laxa' http://www.orpha.net/ORDO/Orphanet_90045 Hereditary folate malabsorption 'Hereditary folate malabsorption' SubClassOf 'Intestinal disease due to vitamin absorption anomaly' 'Hereditary folate malabsorption' SubClassOf 'participates_in' some ('folic acid transport' and ('has component' some 'abnormal')) 'Hereditary folate malabsorption' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Hereditary folate malabsorption' SubClassOf 'Disorder of folate metabolism and transport' 'Hereditary folate malabsorption' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90044 Familial pseudohyperkalemia 'Familial pseudohyperkalemia' SubClassOf 'Hereditary stomatocytosis' 'Familial pseudohyperkalemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016469 Ehlers-Danlos syndrome, vascular-like type 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'vascular disease' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'vascular disease' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0004497 tertiary syphilis 'tertiary syphilis' SubClassOf 'syphilis' 'tertiary syphilis' SubClassOf 'syphilis' http://purl.obolibrary.org/obo/MONDO_0016474 drug-induced lupus erythematosus 'drug-induced lupus erythematosus' SubClassOf 'lupus erythematosus' 'drug-induced lupus erythematosus' SubClassOf 'lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0100253 Roberts-SC phocomelia syndrome 'Roberts-SC phocomelia syndrome' SubClassOf 'non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_220443 Bleeding diathesis due to thromboxane synthesis deficiency 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_31709 Infantile convulsions and choreoathetosis 'Infantile convulsions and choreoathetosis' SubClassOf 'Benign partial infantile seizures' 'Infantile convulsions and choreoathetosis' SubClassOf 'Paroxysmal dyskinesia' 'Infantile convulsions and choreoathetosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_220460 Attenuated familial adenomatous polyposis 'Attenuated familial adenomatous polyposis' SubClassOf 'Genetic digestive tract tumor' 'Attenuated familial adenomatous polyposis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type 'Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type' SubClassOf 'Spondylodysplastic dysplasia' 'Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401953 Episodic ataxia with slurred speech 'Episodic ataxia with slurred speech' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia with slurred speech' SubClassOf 'Rare hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'Disorder of branched-chain amino acid metabolism' 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'Gluconeogenesis disorder' 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401942 Familial median cleft of the upper and lower lips 'Familial median cleft of the upper and lower lips' SubClassOf 'Genetic head and neck malformation' 'Familial median cleft of the upper and lower lips' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_109011 Non-syndromic limb malformation 'Non-syndromic limb malformation' SubClassOf 'Genetic congenital limb malformation' 'Non-syndromic limb malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100326 Glanzmann thrombasthenia 'Glanzmann thrombasthenia' SubClassOf 'inherited bleeding disorder, platelet-type' 'Glanzmann thrombasthenia' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_293381 Epithelial recurrent erosion dystrophy 'Epithelial recurrent erosion dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Epithelial recurrent erosion dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401996 Karyomegalic interstitial nephritis 'Karyomegalic interstitial nephritis' SubClassOf 'hereditary nephritis' 'Karyomegalic interstitial nephritis' SubClassOf 'Familial cystic renal disease' 'Karyomegalic interstitial nephritis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401993 Cold-induced sweating syndrome-hyperthermia spectrum 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0005517 RIP-Chip by array 'RIP-Chip by array' SubClassOf 'assay by array' http://www.ebi.ac.uk/efo/EFO_0005541 bone development disease 'bone development disease' SubClassOf 'bone disease' 'bone development disease' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0005547 dengue disease 'dengue disease' SubClassOf 'Flaviviridae infectious disease' 'dengue disease' SubClassOf 'Flaviviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0005548 developmental disorder of mental health 'developmental disorder of mental health' SubClassOf 'mental or behavioural disorder' 'developmental disorder of mental health' SubClassOf 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_268384 Thoracolumbosacral spina bifida aperta 'Thoracolumbosacral spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Thoracolumbosacral spina bifida aperta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268388 Lumbosacral spina bifida aperta 'Lumbosacral spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Lumbosacral spina bifida aperta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90103 Charcot-Marie-Tooth disease - deafness - intellectual disability 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'has_disease_location' some 'motor neuron' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'hereditary motor neuron disease' http://www.ebi.ac.uk/efo/EFO_0005532 angioedema 'angioedema' SubClassOf 'urticaria' 'angioedema' SubClassOf 'urticaria' http://www.orpha.net/ORDO/Orphanet_293355 Methylmalonic acidemia without homocystinuria 'Methylmalonic acidemia without homocystinuria' SubClassOf 'Classic organic aciduria' 'Methylmalonic acidemia without homocystinuria' SubClassOf 'Organic aciduria' http://www.ebi.ac.uk/efo/EFO_0005539 adrenal gland disease 'adrenal gland disease' SubClassOf 'endocrine system disease' 'adrenal gland disease' SubClassOf 'endocrine system disease' http://www.orpha.net/ORDO/Orphanet_268377 Total spina bifida aperta 'Total spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Total spina bifida aperta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90117 Hereditary motor and sensory neuropathy, Okinawa type 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'Charcot-Marie-Tooth disease' 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005562 hydronephrosis 'hydronephrosis' SubClassOf 'kidney disease' 'hydronephrosis' SubClassOf 'urinary tract obstruction' 'hydronephrosis' SubClassOf 'kidney disease' 'hydronephrosis' SubClassOf 'urinary tract obstruction' http://www.orpha.net/ORDO/Orphanet_90119 Axonal Charcot-Marie-Tooth disease with acrodystrophy 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'Hereditary motor and sensory neuropathy' 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'Rare genetic neurological disorder' 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'has_disease_location' some 'motor neuron' 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'hereditary motor neuron disease' http://www.orpha.net/ORDO/Orphanet_90118 Severe early-onset axonal neuropathy due to MFN2 deficiency 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'Charcot-Marie-Tooth disease' 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'Hereditary motor and sensory neuropathy' 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005569 microphthalmia 'microphthalmia' SubClassOf 'eye disease' 'microphthalmia' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_268369 Spina bifida aperta 'Spina bifida aperta' SubClassOf 'Isolated spina bifida' 'Spina bifida aperta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268363 Open iniencephaly 'Open iniencephaly' SubClassOf 'Iniencephaly' 'Open iniencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90120 Hereditary motor and sensory neuropathy type 6 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'Charcot-Marie-Tooth disease' 'Hereditary motor and sensory neuropathy type 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268366 Closed iniencephaly 'Closed iniencephaly' SubClassOf 'Iniencephaly' 'Closed iniencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268357 Neural tube closure defect 'Neural tube closure defect' SubClassOf 'Neural tube defect' 'Neural tube closure defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005580 red color blindness 'red color blindness' SubClassOf 'eye disease' 'red color blindness' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0005585 shigellosis 'shigellosis' SubClassOf 'dysentery' 'shigellosis' SubClassOf 'dysentery' http://www.orpha.net/ORDO/Orphanet_109007 Arthrogryposis syndrome 'Arthrogryposis syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Arthrogryposis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005570 oral cavity cancer 'oral cavity cancer' SubClassOf 'mouth neoplasm' 'oral cavity cancer' SubClassOf 'mouth neoplasm' http://www.ebi.ac.uk/efo/EFO_0005578 pituitary cancer 'pituitary cancer' SubClassOf 'pituitary tumor' 'pituitary cancer' SubClassOf 'pituitary tumor' http://www.ebi.ac.uk/efo/EFO_0005579 pseudohermaphroditism 'pseudohermaphroditism' SubClassOf 'indeterminate sex and/or pseudohermaphroditism' 'pseudohermaphroditism' SubClassOf 'indeterminate sex and/or pseudohermaphroditism' http://www.ebi.ac.uk/efo/EFO_0005576 pernicious anemia 'pernicious anemia' SubClassOf 'nutritional deficiency disease' 'pernicious anemia' SubClassOf 'megaloblastic anemia' 'pernicious anemia' SubClassOf 'nutritional deficiency disease' 'pernicious anemia' SubClassOf 'megaloblastic anemia' http://www.orpha.net/ORDO/Orphanet_352577 Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_352582 Familial infantile myoclonic epilepsy 'Familial infantile myoclonic epilepsy' SubClassOf 'Monogenic disease with epilepsy' 'Familial infantile myoclonic epilepsy' SubClassOf 'Infantile epilepsy syndrome' 'Familial infantile myoclonic epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004514 chronic rhinitis 'chronic rhinitis' SubClassOf 'rhinitis' 'chronic rhinitis' SubClassOf 'rhinitis' http://www.orpha.net/ORDO/Orphanet_364574 Acrofacial dysostosis 'Acrofacial dysostosis' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Acrofacial dysostosis' SubClassOf 'Syndrome with brachydactyly' 'Acrofacial dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268392 Cervical spina bifida aperta 'Cervical spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Cervical spina bifida aperta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_364577 Intellectual disability-brachydactyly-Pierre Robin syndrome 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Syndrome associated with Pierre Robin syndrome' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Syndrome with brachydactyly' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005595 toxic encephalopathy 'toxic encephalopathy' SubClassOf 'nervous system disease' 'toxic encephalopathy' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_352596 Progressive myoclonic epilepsy with dystonia 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'Infantile epilepsy syndrome' 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'Monogenic disease with epilepsy' 'Progressive myoclonic epilepsy with dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268397 Cervicothoracic spina bifida aperta 'Cervicothoracic spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Cervicothoracic spina bifida aperta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine 'familial or sporadic hemiplegic migraine' SubClassOf 'migraine with aura' 'familial or sporadic hemiplegic migraine' SubClassOf 'migraine with aura' http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome 'Meckel syndrome' SubClassOf 'syndromic disease' 'Meckel syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018937 mucopolysaccharidosis type 3 'mucopolysaccharidosis type 3' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 3' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0018931 mucolipidosis type III 'mucolipidosis type III' SubClassOf 'has modifier' some 'rare' 'mucolipidosis type III' SubClassOf 'bone disease' 'mucolipidosis type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://www.orpha.net/ORDO/Orphanet_268770 Upper thoracic spina bifida cystica 'Upper thoracic spina bifida cystica' SubClassOf 'Myelomeningocele' 'Upper thoracic spina bifida cystica' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018949 distal myopathy 'distal myopathy' SubClassOf 'muscular dystrophy' 'distal myopathy' SubClassOf 'muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_268766 Cervicothoracic spina bifida cystica 'Cervicothoracic spina bifida cystica' SubClassOf 'Myelomeningocele' 'Cervicothoracic spina bifida cystica' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018945 McLeod neuroacanthocytosis syndrome 'McLeod neuroacanthocytosis syndrome' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0018944 gestational trophoblastic neoplasm 'gestational trophoblastic neoplasm' SubClassOf 'female reproductive system neoplasm' 'gestational trophoblastic neoplasm' SubClassOf 'pregnancy disorder' 'gestational trophoblastic neoplasm' SubClassOf 'gestational trophoblastic disease' 'gestational trophoblastic neoplasm' SubClassOf 'gestational trophoblastic disease' http://purl.obolibrary.org/obo/MONDO_0018940 congenital myasthenic syndrome 'congenital myasthenic syndrome' SubClassOf 'neuromuscular junction disease' 'congenital myasthenic syndrome' SubClassOf 'neuromuscular junction disease' http://www.orpha.net/ORDO/Orphanet_268762 Cervical spina bifida cystica 'Cervical spina bifida cystica' SubClassOf 'Myelomeningocele' 'Cervical spina bifida cystica' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018956 idiopathic bronchiectasis 'idiopathic bronchiectasis' SubClassOf 'bronchiectasis' 'idiopathic bronchiectasis' SubClassOf 'bronchiectasis' http://purl.obolibrary.org/obo/MONDO_0018954 Loeys-Dietz syndrome 'Loeys-Dietz syndrome' SubClassOf 'autosomal dominant disease' 'Loeys-Dietz syndrome' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_268758 Lumbosacral spina bifida cystica 'Lumbosacral spina bifida cystica' SubClassOf 'Myelomeningocele' 'Lumbosacral spina bifida cystica' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268752 Thoracolumbosacral spina bifida cystica 'Thoracolumbosacral spina bifida cystica' SubClassOf 'Myelomeningocele' 'Thoracolumbosacral spina bifida cystica' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018969 craniorachischisis 'craniorachischisis' SubClassOf 'congenital nervous system disorder' 'craniorachischisis' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria 'homocystinuria without methylmalonic aciduria' SubClassOf 'homocystinuria' 'homocystinuria without methylmalonic aciduria' SubClassOf 'autosomal recessive disease' 'homocystinuria without methylmalonic aciduria' SubClassOf 'autosomal recessive disease' 'homocystinuria without methylmalonic aciduria' SubClassOf 'homocystinuria' http://purl.obolibrary.org/obo/MONDO_0018963 hereditary methemoglobinemia 'hereditary methemoglobinemia' SubClassOf 'inherited hemoglobinopathy' 'hereditary methemoglobinemia' SubClassOf 'methemoglobinemia' 'hereditary methemoglobinemia' SubClassOf 'inherited hemoglobinopathy' 'hereditary methemoglobinemia' SubClassOf 'methemoglobinemia' http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 'neurofibromatosis type 1' SubClassOf 'neurofibromatosis' 'neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 'neurofibromatosis type 1' SubClassOf 'neurofibromatosis' http://purl.obolibrary.org/obo/MONDO_0016315 mucopolysaccharidosis type 2, severe form 'mucopolysaccharidosis type 2, severe form' SubClassOf 'mucopolysaccharidosis type 2' 'mucopolysaccharidosis type 2, severe form' SubClassOf 'mucopolysaccharidosis type 2' http://purl.obolibrary.org/obo/MONDO_0004348 retinal telangiectasia 'retinal telangiectasia' SubClassOf 'retinal vascular disorder' 'retinal telangiectasia' SubClassOf 'retinal vascular disorder' http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C 'Niemann-Pick disease type C' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type C' SubClassOf 'Niemann-Pick disease' http://purl.obolibrary.org/obo/MONDO_0018983 Tolosa-Hunt syndrome 'Tolosa-Hunt syndrome' SubClassOf 'ocular motility disease' 'Tolosa-Hunt syndrome' SubClassOf 'ocular motility disease' http://www.orpha.net/ORDO/Orphanet_100932 Nuclear oculomotor paralysis 'Nuclear oculomotor paralysis' SubClassOf 'Oculomotor palsy' 'Nuclear oculomotor paralysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004357 carcinoma of supraglottis 'carcinoma of supraglottis' SubClassOf 'laryngeal carcinoma' 'carcinoma of supraglottis' SubClassOf 'supraglottis cancer' 'carcinoma of supraglottis' SubClassOf 'laryngeal carcinoma' 'carcinoma of supraglottis' SubClassOf 'supraglottis cancer' http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis 'Leber congenital amaurosis' SubClassOf 'inherited retinal dystrophy' 'Leber congenital amaurosis' SubClassOf 'inherited retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_100924 Porphyria due to ALA dehydratase deficiency 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'Acute hepatic porphyria' 'Porphyria due to ALA dehydratase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus 'congenital hydrocephalus' SubClassOf 'congenital nervous system disorder' 'congenital hydrocephalus' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016340 familial restrictive cardiomyopathy 'familial restrictive cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' 'familial restrictive cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0004379 female breast carcinoma 'female breast carcinoma' SubClassOf 'breast carcinoma' 'female breast carcinoma' SubClassOf 'breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' http://www.orpha.net/ORDO/Orphanet_364198 Bipartite talus 'Bipartite talus' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Bipartite talus' SubClassOf 'Non-syndromic limb malformation' 'Bipartite talus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016357 dysplastic cortical hyperostosis 'dysplastic cortical hyperostosis' SubClassOf 'primary bone dysplasia' 'dysplastic cortical hyperostosis' SubClassOf 'neonatal osteosclerotic dysplasia' http://purl.obolibrary.org/obo/MONDO_0043953 burkholderia infectious disease 'burkholderia infectious disease' SubClassOf 'gram-negative bacterial infections' 'burkholderia infectious disease' SubClassOf 'gram-negative bacterial infections' http://purl.obolibrary.org/obo/MONDO_0016374 cranial neuralgia 'cranial neuralgia' SubClassOf 'cranial nerve neuropathy' 'cranial neuralgia' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0016377 Pitt-Hopkins-like syndrome 'Pitt-Hopkins-like syndrome' SubClassOf 'syndromic intellectual disability' 'Pitt-Hopkins-like syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_268744 Spina bifida cystica 'Spina bifida cystica' SubClassOf 'Isolated spina bifida' 'Spina bifida cystica' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268748 Total spina bifida cystica 'Total spina bifida cystica' SubClassOf 'Myelomeningocele' 'Total spina bifida cystica' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016381 hypertrichosis lanuginosa congenita 'hypertrichosis lanuginosa congenita' SubClassOf 'hypertrichosis' 'hypertrichosis lanuginosa congenita' SubClassOf 'hypertrichosis' http://www.orpha.net/ORDO/Orphanet_268740 Upper thoracic spina bifida aperta 'Upper thoracic spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Upper thoracic spina bifida aperta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus 'nephrogenic diabetes insipidus' SubClassOf 'diabetes insipidus' 'nephrogenic diabetes insipidus' SubClassOf 'diabetes insipidus' http://www.orpha.net/ORDO/Orphanet_329813 Mosaic genome-wide paternal uniparental disomy 'Mosaic genome-wide paternal uniparental disomy' SubClassOf 'Autosomal uniparental disomy' 'Mosaic genome-wide paternal uniparental disomy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016396 pontocerebellar hypoplasia type 1 'pontocerebellar hypoplasia type 1' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 1' SubClassOf 'pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_171208 Intermediate anorectal malformation 'Intermediate anorectal malformation' SubClassOf 'Isolated anorectal malformation' 'Intermediate anorectal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005924 binge eating 'binge eating' SubClassOf 'eating disorder' 'binge eating' SubClassOf 'eating disorder' http://www.ebi.ac.uk/efo/EFO_0005922 esophageal squamous cell carcinoma 'esophageal squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'esophageal carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'esophageal carcinoma' http://www.orpha.net/ORDO/Orphanet_329802 5p13 microduplication syndrome '5p13 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '5p13 microduplication syndrome' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' '5p13 microduplication syndrome' SubClassOf 'Partial autosomal trisomy/tetrasomy' '5p13 microduplication syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_28455 Pancreatic beta cell agenesis with neonatal diabetes mellitus 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'Rare genetic diabetes mellitus' 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171215 Low anorectal malformation 'Low anorectal malformation' SubClassOf 'Isolated anorectal malformation' 'Low anorectal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy 'generalised epilepsy' SubClassOf 'epilepsy' 'generalised epilepsy' SubClassOf 'epilepsy' http://www.orpha.net/ORDO/Orphanet_171220 Rectal duplication 'Rectal duplication' SubClassOf 'Anorectal malformation' 'Rectal duplication' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100214 Rajab interstitial lung disease with brain calcifications 'Rajab interstitial lung disease with brain calcifications' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy 'collagen 6-related myopathy' SubClassOf 'myopathy' http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer 'colorectal cancer' SubClassOf 'intestinal cancer' 'colorectal cancer' SubClassOf 'intestinal cancer' http://www.ebi.ac.uk/efo/EFO_0005840 Pyruvate kinase hyperactivity 'Pyruvate kinase hyperactivity' SubClassOf 'Pyruvate metabolism disorder' 'Pyruvate kinase hyperactivity' SubClassOf 'Disorder of energy metabolism' http://www.ebi.ac.uk/efo/EFO_0005845 hemoglobin A2 measurement 'hemoglobin A2 measurement' SubClassOf 'is_about' some 'Beta-thalassemia and related diseases' http://www.ebi.ac.uk/efo/EFO_0005849 serum lipase activity measurement 'serum lipase activity measurement' SubClassOf ('is_about' some 'pancreatitis') or ('is_about' some 'Crohn's disease') or ('is_about' some 'celiac disease') or ('is_about' some 'pancreatic carcinoma') or ('is_about' some 'Cystic fibrosis') http://www.ebi.ac.uk/efo/EFO_0005854 allergic rhinitis 'allergic rhinitis' SubClassOf 'rhinitis' 'allergic rhinitis' SubClassOf 'rhinitis' http://www.ebi.ac.uk/efo/EFO_0005855 narcolepsy without cataplexy 'narcolepsy without cataplexy' SubClassOf 'narcolepsy' 'narcolepsy without cataplexy' SubClassOf 'narcolepsy' http://www.ebi.ac.uk/efo/EFO_0005856 arthritis 'arthritis' SubClassOf 'joint disease' 'arthritis' SubClassOf 'inflammatory disease' 'arthritis' SubClassOf 'joint disease' 'arthritis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_100986 Autosomal recessive spastic paraplegia type 5A 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100985 Autosomal dominant spastic paraplegia type 4 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100988 Autosomal dominant spastic paraplegia type 6 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100982 Autosomal recessive pure spastic paraplegia 'Autosomal recessive pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' 'Autosomal recessive pure spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100981 Autosomal recessive complex spastic paraplegia 'Autosomal recessive complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'Autosomal recessive complex spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100984 Autosomal dominant spastic paraplegia type 3 'Autosomal dominant spastic paraplegia type 3' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 3' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100980 Autosomal dominant pure spastic paraplegia 'Autosomal dominant pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' 'Autosomal dominant pure spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100979 Autosomal dominant complex spastic paraplegia 'Autosomal dominant complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'Autosomal dominant complex spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100978 Cloverleaf skull - asphyxiating thoracic dysplasia 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf 'Genetic cranial malformation' 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf 'Rare genetic bone disease' 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf 'Rare genetic bone development disorder' http://www.orpha.net/ORDO/Orphanet_100997 X-linked spastic paraplegia type 16 'X-linked spastic paraplegia type 16' SubClassOf 'Pure or complex X-linked spastic paraplegia' 'X-linked spastic paraplegia type 16' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100996 Autosomal recessive spastic paraplegia type 15 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100999 Autosomal dominant spastic paraplegia type 19 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100998 Autosomal dominant spastic paraplegia type 17 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100993 Autosomal dominant spastic paraplegia type 12 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100995 Autosomal recessive spastic paraplegia type 14 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100994 Autosomal dominant spastic paraplegia type 13 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100991 Autosomal dominant spastic paraplegia type 10 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100990 Autosomal dominant spastic paraplegia type 9 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 9' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100989 Autosomal dominant spastic paraplegia type 8 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_100976 Bathing suit ichthyosis 'Bathing suit ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Bathing suit ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018800 Kallmann syndrome 'Kallmann syndrome' SubClassOf 'hypogonadotropic hypogonadism' 'Kallmann syndrome' SubClassOf 'hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Primary membranoproliferative glomerulonephritis' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217093 Mucopolysaccharidosis type 2, attenuated form 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'Mucopolysaccharidosis type 2' 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293642 Blepharophimosis-intellectual disability syndrome 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_293633 PYCR1-related De Barsy syndrome 'PYCR1-related De Barsy syndrome' SubClassOf 'De Barsy syndrome' 'PYCR1-related De Barsy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217085 Mucopolysaccharidosis type 2, severe form 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'Mucopolysaccharidosis type 2' 'Mucopolysaccharidosis type 2, severe form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_77298 Anophthalmia/microphthalmia - esophageal atresia 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Syndromic microphthalmia' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'anophthalmia-microphthalmia syndrome' http://www.orpha.net/ORDO/Orphanet_77299 Microphthalmia - brain atrophy 'Microphthalmia - brain atrophy' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia - brain atrophy' SubClassOf 'anophthalmia-microphthalmia syndrome' http://www.orpha.net/ORDO/Orphanet_77295 Odontoleukodystrophy 'Odontoleukodystrophy' SubClassOf 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' 'Odontoleukodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018853 transgrediens et progrediens palmoplantar keratoderma 'transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'autosomal dominant isolated diffuse palmoplantar keratoderma' 'transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'autosomal dominant isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0018855 keratosis pilaris atrophicans 'keratosis pilaris atrophicans' SubClassOf 'keratosis pilaris' 'keratosis pilaris atrophicans' SubClassOf 'keratosis pilaris' http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia 'achromatopsia' SubClassOf 'color vision disorder' 'achromatopsia' SubClassOf 'color vision disorder' http://purl.obolibrary.org/obo/MONDO_0018851 familial keratoacanthoma 'familial keratoacanthoma' SubClassOf 'inherited skin tumor' 'familial keratoacanthoma' SubClassOf 'keratoacanthoma' 'familial keratoacanthoma' SubClassOf 'inherited skin tumor' 'familial keratoacanthoma' SubClassOf 'keratoacanthoma' http://purl.obolibrary.org/obo/MONDO_0018869 cobblestone lissencephaly 'cobblestone lissencephaly' SubClassOf 'lissencephaly spectrum disorders' 'cobblestone lissencephaly' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy 'metachromatic leukodystrophy' SubClassOf 'sphingolipidosis' 'metachromatic leukodystrophy' SubClassOf 'sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_90280 Chilblain lupus 'Chilblain lupus' SubClassOf 'Genetic skin vascular disorder' 'Chilblain lupus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018875 Li-Fraumeni syndrome 'Li-Fraumeni syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Li-Fraumeni syndrome' SubClassOf 'autosomal dominant disease' 'Li-Fraumeni syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Li-Fraumeni syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0016210 alternating hemiplegia 'alternating hemiplegia' SubClassOf 'neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0004245 ependymal tumor of brain 'ependymal tumor of brain' SubClassOf 'brain glioma' 'ependymal tumor of brain' SubClassOf 'brain glioma' http://purl.obolibrary.org/obo/MONDO_0004247 peptic ulcer disease 'peptic ulcer disease' SubClassOf 'ulcer disease' 'peptic ulcer disease' SubClassOf 'digestive system disease' 'peptic ulcer disease' SubClassOf 'ulcer disease' 'peptic ulcer disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0016223 infantile hemangioma of rare localization 'infantile hemangioma of rare localization' SubClassOf 'hemangioma' 'infantile hemangioma of rare localization' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0100061 PRPS1 deficiency disorder 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some 'Arts syndrome' 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some 'Arts syndrome' http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy 'developmental and epileptic encephalopathy' SubClassOf 'generalised epilepsy' 'developmental and epileptic encephalopathy' SubClassOf 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0004259 endocervical carcinoma 'endocervical carcinoma' SubClassOf 'malignant neoplasm of endocervix' 'endocervical carcinoma' SubClassOf 'cervical carcinoma' 'endocervical carcinoma' SubClassOf 'malignant neoplasm of endocervix' 'endocervical carcinoma' SubClassOf 'cervical carcinoma' http://purl.obolibrary.org/obo/MONDO_0004251 small intestine neoplasm 'small intestine neoplasm' SubClassOf 'intestinal neoplasm' 'small intestine neoplasm' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/MONDO_0018898 primary cutaneous lymphoma 'primary cutaneous lymphoma' SubClassOf 'skin cancer' 'primary cutaneous lymphoma' SubClassOf 'skin cancer' http://purl.obolibrary.org/obo/MONDO_0016236 kaposiform hemangioendothelioma 'kaposiform hemangioendothelioma' SubClassOf 'hemangioendothelioma' 'kaposiform hemangioendothelioma' SubClassOf 'hemangioendothelioma' http://www.orpha.net/ORDO/Orphanet_329971 Generalized juvenile polyposis/juvenile polyposis coli 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'Juvenile polyposis syndrome' 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura 'thrombotic thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' 'thrombotic thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' http://purl.obolibrary.org/obo/MONDO_0018892 Wyburn-Mason syndrome 'Wyburn-Mason syndrome' SubClassOf 'cerebrofacial arteriovenous metameric syndrome' 'Wyburn-Mason syndrome' SubClassOf 'neurocutaneous syndrome' 'Wyburn-Mason syndrome' SubClassOf 'cerebrofacial arteriovenous metameric syndrome' 'Wyburn-Mason syndrome' SubClassOf 'neurocutaneous syndrome' http://www.orpha.net/ORDO/Orphanet_315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329967 Intermittent hydrarthrosis 'Intermittent hydrarthrosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Intermittent hydrarthrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217012 Spinocerebellar ataxia type 31 'Spinocerebellar ataxia type 31' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 31' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016242 hemoglobin C disease 'hemoglobin C disease' SubClassOf 'inherited hemoglobinopathy' 'hemoglobin C disease' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016243 hemoglobin E disease 'hemoglobin E disease' SubClassOf 'inherited hemoglobinopathy' 'hemoglobin E disease' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome 'atypical hemolytic-uremic syndrome' SubClassOf 'syndromic disease' 'atypical hemolytic-uremic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016241 alternating hemiplegia of childhood 'alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' 'alternating hemiplegia of childhood' SubClassOf 'neurodevelopmental disorder' 'alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'syndromic intellectual disability' 'Hennekam syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_401815 Autosomal recessive spastic paraplegia type 66 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 66' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401810 Autosomal recessive spastic paraplegia type 64 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_217031 Obesity due to MC3R deficiency 'Obesity due to MC3R deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to MC3R deficiency' SubClassOf 'Genetic obesity' http://www.orpha.net/ORDO/Orphanet_329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401805 Autosomal recessive spastic paraplegia type 63 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_401800 Autosomal recessive spastic paraplegia type 60 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 60' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217026 Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_158124 Genetic dementia 'Genetic dementia' SubClassOf 'central nervous system disease' 'Genetic dementia' SubClassOf 'has_disease_location' some 'brain' 'Genetic dementia' SubClassOf 'Rare genetic neurological disorder' 'Genetic dementia' SubClassOf 'genetic nervous system disorder' 'Genetic dementia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217023 Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016290 Hernández-Aguirre Negrete syndrome 'Hernández-Aguirre Negrete syndrome' SubClassOf 'syndromic intellectual disability' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Rare genetic neurological disorder' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'hereditary motor neuron disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_disease_location' some 'motor neuron' http://www.ebi.ac.uk/efo/EFO_0005801 cholesterol embolism 'cholesterol embolism' SubClassOf 'vascular disease' 'cholesterol embolism' SubClassOf 'vascular disease' http://www.orpha.net/ORDO/Orphanet_217052 Early-onset non-syndromic cataract 'Early-onset non-syndromic cataract' SubClassOf 'Rare non-syndromic cataract' 'Early-onset non-syndromic cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217059 Isolated congenital digital clubbing 'Isolated congenital digital clubbing' SubClassOf 'Isolated nail anomaly' 'Isolated congenital digital clubbing' SubClassOf 'Joint formation defects' 'Isolated congenital digital clubbing' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0043878 hereditary optic atrophy 'hereditary optic atrophy' SubClassOf 'primary optic atrophy' 'hereditary optic atrophy' SubClassOf 'primary optic atrophy' http://www.ebi.ac.uk/efo/EFO_0005809 type II hypersensitivity reaction disease 'type II hypersensitivity reaction disease' SubClassOf 'immune system disease' 'type II hypersensitivity reaction disease' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0043885 eye infectious disorder 'eye infectious disorder' SubClassOf 'eye disease' 'eye infectious disorder' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_329918 Non-immunoglobulin-mediated membranoproliferative glomerulonephritis 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Primary membranoproliferative glomerulonephritis' 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly 'holoprosencephaly' SubClassOf 'syndromic intellectual disability' 'holoprosencephaly' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_171201 High anorectal malformation 'High anorectal malformation' SubClassOf 'Isolated anorectal malformation' 'High anorectal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_28378 Tyrosinemia type 2 'Tyrosinemia type 2' SubClassOf 'Disorder of tyrosine metabolism' 'Tyrosinemia type 2' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' http://www.ebi.ac.uk/efo/EFO_0005716 retinal cancer 'retinal cancer' SubClassOf 'ocular cancer' 'retinal cancer' SubClassOf 'ocular cancer' http://www.orpha.net/ORDO/Orphanet_401768 Proximal myopathy with extrapyramidal signs 'Proximal myopathy with extrapyramidal signs' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Proximal myopathy with extrapyramidal signs' SubClassOf 'Non-dystrophic myopathy' 'Proximal myopathy with extrapyramidal signs' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401764 Pancytopenia-developmental delay syndrome 'Pancytopenia-developmental delay syndrome' SubClassOf 'Rare constitutional medullar aplasia' 'Pancytopenia-developmental delay syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005761 lupus nephritis 'lupus nephritis' SubClassOf 'glomerulonephritis' 'lupus nephritis' SubClassOf 'glomerulonephritis' http://www.ebi.ac.uk/efo/EFO_0003102 osteomyelitis 'osteomyelitis' SubClassOf 'bone inflammation disease' 'osteomyelitis' SubClassOf 'bone inflammation disease' http://www.ebi.ac.uk/efo/EFO_0003101 testicular seminoma 'testicular seminoma' SubClassOf 'seminoma' 'testicular seminoma' SubClassOf 'malignant testicular germ cell tumor' 'testicular seminoma' SubClassOf 'seminoma' 'testicular seminoma' SubClassOf 'malignant testicular germ cell tumor' http://www.ebi.ac.uk/efo/EFO_0003104 adrenocortical adenoma 'adrenocortical adenoma' SubClassOf 'adenoma' 'adrenocortical adenoma' SubClassOf 'benign neoplasm of adrenal gland' 'adrenocortical adenoma' SubClassOf 'adenoma' 'adrenocortical adenoma' SubClassOf 'benign neoplasm of adrenal gland' http://www.ebi.ac.uk/efo/EFO_0005769 calcium metabolic disease 'calcium metabolic disease' SubClassOf 'mineral metabolism disease' 'calcium metabolic disease' SubClassOf 'mineral metabolism disease' http://www.ebi.ac.uk/efo/EFO_0003105 spina bifida 'spina bifida' SubClassOf 'congenital nervous system disorder' 'spina bifida' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0003108 essential tremor 'essential tremor' SubClassOf 'movement disorder' 'essential tremor' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_77302 Oculo-oto-facial dysplasia 'Oculo-oto-facial dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Oculo-oto-facial dysplasia' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_77304 Not NOTCH3-related small vessel disease of the brain 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_77300 Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'Orofacial clefting syndrome' 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_77301 Monosomy 9q22.3 'Monosomy 9q22.3' SubClassOf 'Partial monosomy of the long arm of chromosome 9' 'Monosomy 9q22.3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005754 parathyroid disease 'parathyroid disease' SubClassOf 'endocrine system disease' 'parathyroid disease' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0005758 cycloplegia 'cycloplegia' SubClassOf 'eye accommodation disease' 'cycloplegia' SubClassOf 'eye accommodation disease' http://www.orpha.net/ORDO/Orphanet_90348 Autosomal dominant cutis laxa 'Autosomal dominant cutis laxa' SubClassOf 'Cutis laxa' 'Autosomal dominant cutis laxa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90342 Xeroderma pigmentosum variant 'Xeroderma pigmentosum variant' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum variant' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum variant' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum variant' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum variant' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.ebi.ac.uk/efo/EFO_0005773 retinal detachment 'retinal detachment' SubClassOf 'retinopathy' 'retinal detachment' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_0005771 ovarian disease 'ovarian disease' SubClassOf 'female reproductive system disease' 'ovarian disease' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0005774 brain disease 'brain disease' SubClassOf 'central nervous system disease' 'brain disease' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0005775 aortic disease 'aortic disease' SubClassOf 'arterial disorder' 'aortic disease' SubClassOf 'arterial disorder' http://www.orpha.net/ORDO/Orphanet_90349 Autosomal recessive cutis laxa type 1 'Autosomal recessive cutis laxa type 1' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Autosomal recessive cutis laxa type 1' SubClassOf 'Cutis laxa' 'Autosomal recessive cutis laxa type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90350 Autosomal recessive cutis laxa type 2 'Autosomal recessive cutis laxa type 2' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Disorder of proline metabolism' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Cutis laxa' 'Autosomal recessive cutis laxa type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003144 heart failure 'heart failure' SubClassOf 'heart disease' 'heart failure' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_90354 Brittle cornea syndrome 'Brittle cornea syndrome' SubClassOf 'corneal disease' 'Brittle cornea syndrome' SubClassOf 'Connective tissue disease with eye involvement' 'Brittle cornea syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Brittle cornea syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003145 high output heart failure 'high output heart failure' SubClassOf 'heart failure' 'high output heart failure' SubClassOf 'heart failure' http://www.orpha.net/ORDO/Orphanet_401795 Autosomal recessive spastic paraplegia type 59 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 59' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'Disorder of lipid metabolism' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53372 Hereditary geniospasm 'Hereditary geniospasm' SubClassOf 'Rare genetic tremor disorder' 'Hereditary geniospasm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90362 Primary intestinal lymphangiectasia 'Primary intestinal lymphangiectasia' SubClassOf 'Genetic intestinal disease' 'Primary intestinal lymphangiectasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90368 Hypotrichosis simplex of the scalp 'Hypotrichosis simplex of the scalp' SubClassOf 'Alopecia' 'Hypotrichosis simplex of the scalp' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401785 Autosomal recessive spastic paraplegia type 62 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'Autosomal recessive pure spastic paraplegia' 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' SubClassOf 'Disorder of lipid metabolism' http://www.orpha.net/ORDO/Orphanet_401780 Autosomal recessive spastic paraplegia type 61 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' SubClassOf 'Disorder of lipid metabolism' http://www.orpha.net/ORDO/Orphanet_352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' SubClassOf 'Disorder of lipid metabolism' http://www.orpha.net/ORDO/Orphanet_352328 MEGDEL syndrome 'MEGDEL syndrome' SubClassOf 'Neurometabolic disease' 'MEGDEL syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_90308 Klippel-Trénaunay syndrome 'Klippel-Trénaunay syndrome' SubClassOf 'Angioosteohypertrophic syndrome' 'Klippel-Trénaunay syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Klippel-Trénaunay syndrome' SubClassOf 'Rare genetic bone disease' 'Klippel-Trénaunay syndrome' SubClassOf 'Genetic skin vascular disorder' 'Klippel-Trénaunay syndrome' SubClassOf 'Genetic overgrowth/obesity syndrome' http://www.orpha.net/ORDO/Orphanet_352333 Congenital ichthyosis - intellectual disability - spastic quadriplegia 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Neurometabolic disease' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis 'primary membranoproliferative glomerulonephritis' SubClassOf 'glomerulonephritis' 'primary membranoproliferative glomerulonephritis' SubClassOf 'glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0018919 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf 'genetic disorder' 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://purl.obolibrary.org/obo/MONDO_0018911 maturity-onset diabetes of the young 'maturity-onset diabetes of the young' SubClassOf 'diabetes mellitus' 'maturity-onset diabetes of the young' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_138041 Pierre Robin syndrome associated with collagen disease 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.ebi.ac.uk/efo/EFO_0009626 pyloric stenosis 'pyloric stenosis' SubClassOf 'stomach disease' 'pyloric stenosis' SubClassOf 'stomach disease' http://www.orpha.net/ORDO/Orphanet_165658 Genetic gastro-esophageal disease 'Genetic gastro-esophageal disease' SubClassOf 'has_disease_location' some 'esophagus' 'Genetic gastro-esophageal disease' SubClassOf 'esophageal disease' 'Genetic gastro-esophageal disease' SubClassOf 'Rare genetic gastroenterological disease' 'Genetic gastro-esophageal disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_138047 Pierre Robin syndrome associated with a chromosomal anomaly 'Pierre Robin syndrome associated with a chromosomal anomaly' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with a chromosomal anomaly' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_138050 Pierre Robin syndrome associated with branchial archs anomalies 'Pierre Robin syndrome associated with branchial archs anomalies' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with branchial archs anomalies' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_138055 Pierre Robin syndrome associated with bone disease 'Pierre Robin syndrome associated with bone disease' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with bone disease' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_138063 Syndrome associated with Pierre Robin syndrome 'Syndrome associated with Pierre Robin syndrome' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Syndrome associated with Pierre Robin syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.ebi.ac.uk/efo/EFO_0009646 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'inherited bleeding disorder, platelet-type' 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_138066 Pierre Robin syndrome associated with miscellaneous anomalies 'Pierre Robin syndrome associated with miscellaneous anomalies' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with miscellaneous anomalies' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.ebi.ac.uk/efo/EFO_0009666 enthesopathy 'enthesopathy' SubClassOf 'musculoskeletal system disease' 'enthesopathy' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_38874 Dihydropyrimidinuria 'Dihydropyrimidinuria' SubClassOf 'Disorder of pyrimidine metabolism' 'Dihydropyrimidinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3087 Retinohepatoendocrinologic syndrome 'Retinohepatoendocrinologic syndrome' SubClassOf 'Genetic polyendocrinopathy' 'Retinohepatoendocrinologic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009661 bronchitis 'bronchitis' SubClassOf 'bronchial disease' 'bronchitis' SubClassOf 'bronchial disease' http://www.orpha.net/ORDO/Orphanet_3086 Autosomal dominant vitreoretinochoroidopathy 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'Vitreoretinal degeneration' 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009662 common wart 'common wart' SubClassOf 'viral disease' 'common wart' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_3085 Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Syndromic retinitis pigmentosa' 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_0009668 external ear disease 'external ear disease' SubClassOf 'auditory system disease' 'external ear disease' SubClassOf 'disorder of ear' 'external ear disease' SubClassOf 'auditory system disease' 'external ear disease' SubClassOf 'disorder of ear' http://www.orpha.net/ORDO/Orphanet_3082 Intellectual disability - polydactyly - uncombable hair 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_3080 Intellectual disability, Wolff type 'Intellectual disability, Wolff type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability, Wolff type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability, Wolff type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009654 reference sample 'reference sample' SubClassOf 'has_quality' some 'normal' 'reference sample' SubClassOf 'case control design' http://www.ebi.ac.uk/efo/EFO_0009655 abnormal sample 'abnormal sample' SubClassOf 'case control design' http://www.orpha.net/ORDO/Orphanet_3098 Rhizomelic syndrome, Urbach type 'Rhizomelic syndrome, Urbach type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Rhizomelic syndrome, Urbach type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3095 Atypical Rett syndrome 'Atypical Rett syndrome' SubClassOf 'Rare pervasive developmental disorder' 'Atypical Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Atypical Rett syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Atypical Rett syndrome' SubClassOf 'Motor stereotypies' 'Atypical Rett syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0010646 genetic non-acquired premature ovarian failure 'genetic non-acquired premature ovarian failure' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'genetic non-acquired premature ovarian failure' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009689 urethral disease 'urethral disease' SubClassOf 'urinary system disease' 'urethral disease' SubClassOf 'urinary system disease' http://www.orpha.net/ORDO/Orphanet_320391 Autosomal recessive spastic paraplegia type 46 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_320396 Autosomal recessive spastic paraplegia type 45 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0009677 occlusion precerebral artery 'occlusion precerebral artery' SubClassOf 'cerebrovascular disorder' 'occlusion precerebral artery' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0009672 inner ear disease 'inner ear disease' SubClassOf 'auditory system disease' 'inner ear disease' SubClassOf 'disorder of ear' 'inner ear disease' SubClassOf 'auditory system disease' 'inner ear disease' SubClassOf 'disorder of ear' http://www.ebi.ac.uk/efo/EFO_0009673 laryngeal disease 'laryngeal disease' SubClassOf 'upper respiratory tract disorder' 'laryngeal disease' SubClassOf 'upper respiratory tract disorder' http://www.ebi.ac.uk/efo/EFO_0009674 lens disease 'lens disease' SubClassOf 'eye disease' 'lens disease' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_320380 Autosomal recessive spastic paraplegia type 54 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_320385 Autosomal recessive spastic paraplegia type 49 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_3047 Blepharophimosis-intellectual disability syndrome, SBBYS type 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'Syndromic hypothyroidism' 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'Rare hypothyroidism' http://www.orpha.net/ORDO/Orphanet_102009 Classic lissencephaly 'Classic lissencephaly' SubClassOf 'Lissencephaly' 'Classic lissencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3044 Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_3041 Intellectual disability - balding - patella luxation - acromicria 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'Acromelic dysplasia' 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_99832 Resistance to thyrotropin-releasing hormone syndrome 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'Central congenital hypothyroidism' 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3057 Monoamine oxidase A deficiency 'Monoamine oxidase A deficiency' SubClassOf 'Neurometabolic disease' 'Monoamine oxidase A deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy 'Autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'Limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3051 intellectual disability - sparse hair - brachydactyly 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_102013 Complex hereditary spastic paraplegia 'Complex hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' 'Complex hereditary spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_102014 Autosomal dominant limb-girdle muscular dystrophy 'Autosomal dominant limb-girdle muscular dystrophy' SubClassOf 'Limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_102011 Lissencephaly type 3 'Lissencephaly type 3' SubClassOf 'Lissencephaly' 'Lissencephaly type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_102012 Pure hereditary spastic paraplegia 'Pure hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' 'Pure hereditary spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99842 Leukocyte adhesion deficiency type I 'Leukocyte adhesion deficiency type I' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type I' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://www.orpha.net/ORDO/Orphanet_99844 Leukocyte adhesion deficiency type III 'Leukocyte adhesion deficiency type III' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type III' SubClassOf 'Osteopetrosis' 'Leukocyte adhesion deficiency type III' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Leukocyte adhesion deficiency type III' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_99843 Leukocyte adhesion deficiency type II 'Leukocyte adhesion deficiency type II' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type II' SubClassOf 'Disorder of multiple glycosylation' 'Leukocyte adhesion deficiency type II' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Leukocyte adhesion deficiency type II' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Leukocyte adhesion deficiency type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3068 Intellectual disability - myopathy - short stature - endocrine defect 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'Congenital myopathy' 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_99846 Autosomal dominant myoglobinuria 'Autosomal dominant myoglobinuria' SubClassOf 'Muscular lipidosis' 'Autosomal dominant myoglobinuria' SubClassOf 'Other metabolic disease' 'Autosomal dominant myoglobinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99845 Genetic recurrent myoglobinuria 'Genetic recurrent myoglobinuria' SubClassOf 'Muscular lipidosis' 'Genetic recurrent myoglobinuria' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Genetic recurrent myoglobinuria' SubClassOf 'Other metabolic disease' 'Genetic recurrent myoglobinuria' 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 'Neuronal ceroid lipofuscinosis' 'neuronal ceroid-lipofuscinosis, dominant/recessive' SubClassOf 'Metabolic disease with pigmentary retinitis' 'neuronal ceroid-lipofuscinosis, dominant/recessive' SubClassOf 'Lysosomal disease' 'neuronal ceroid-lipofuscinosis, dominant/recessive' SubClassOf 'Genetic neurodegenerative disease' 'neuronal ceroid-lipofuscinosis, dominant/recessive' SubClassOf 'Unclassified primitive or secondary maculopathy' http://www.orpha.net/ORDO/Orphanet_99849 Glycogen storage disease due to muscle beta-enolase deficiency 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0020035 autosomal dominant common variable immunodeficiency 'autosomal dominant common variable immunodeficiency' SubClassOf 'Common variable immunodeficiency' 'autosomal dominant common variable immunodeficiency' SubClassOf 'inborn errors of immunity' 'autosomal dominant common variable immunodeficiency' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.ebi.ac.uk/efo/EFO_0020036 autosomal recessive nemaline myopathy 'autosomal recessive nemaline myopathy' SubClassOf 'Nemaline myopathy' 'autosomal recessive nemaline myopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_99853 Ovarioleukodystrophy 'Ovarioleukodystrophy' SubClassOf 'CACH syndrome' 'Ovarioleukodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99852 RAVINE syndrome 'RAVINE syndrome' SubClassOf 'Leukodystrophy' 'RAVINE syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75840 Congenital muscular dystrophy, Ullrich type 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'Genetic skeletal muscle disease' http://www.ebi.ac.uk/efo/EFO_0020033 autosomal recessive congenital stationary night blindness 'autosomal recessive congenital stationary night blindness' SubClassOf 'Congenital stationary night blindness' 'autosomal recessive congenital stationary night blindness' SubClassOf 'Unclassified familial retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_3079 Intellectual disability, Buenos-Aires type 'Intellectual disability, Buenos-Aires type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability, Buenos-Aires type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability, Buenos-Aires type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3078 Severe X-linked intellectual disability, Gustavson type 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'syndromic hereditary optic neuropathy' 'Severe X-linked intellectual disability, Gustavson type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3074 Intellectual disability - short stature - hypertelorism 'Intellectual disability - short stature - hypertelorism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - short stature - hypertelorism' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_99856 Primary syringomyelia 'Primary syringomyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Primary syringomyelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99858 Idiopathic syringomyelia 'Idiopathic syringomyelia' SubClassOf 'Primary syringomyelia' 'Idiopathic syringomyelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0020028 autosomal dominant retinitis pigmentosa 'autosomal dominant retinitis pigmentosa' SubClassOf 'Retinitis pigmentosa' 'autosomal dominant retinitis pigmentosa' SubClassOf 'Retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_0020026 autosomal recessive retinitis pigmentosa 'autosomal recessive retinitis pigmentosa' SubClassOf 'Retinitis pigmentosa' 'autosomal recessive retinitis pigmentosa' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_3003 Pyknoachondrogenesis 'Pyknoachondrogenesis' SubClassOf 'Lethal chondrodysplasia' 'Pyknoachondrogenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3006 Pyridoxine-dependent epilepsy 'Pyridoxine-dependent epilepsy' SubClassOf 'Neurometabolic disease' 'Pyridoxine-dependent epilepsy' SubClassOf 'Disorder of pyridoxine metabolism' 'Pyridoxine-dependent epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_73246 Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_3011 Spastic tetraplegia - retinitis pigmentosa - intellectual disability 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'Syndromic retinitis pigmentosa' 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_87876 sialidosis type II 'sialidosis type II' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'sialidosis type II' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'sialidosis type II' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'sialidosis type II' SubClassOf 'Developmental anomaly of metabolic origin' 'sialidosis type II' SubClassOf 'Rare genetic renal disease' 'sialidosis type II' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'sialidosis type II' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_73229 Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_3015 Radio-renal syndrome 'Radio-renal syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Radio-renal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0020040 transient neonatal diabetes, dominant/recessive 'transient neonatal diabetes, dominant/recessive' SubClassOf 'Transient neonatal diabetes mellitus' 'transient neonatal diabetes, dominant/recessive' SubClassOf 'Rare genetic diabetes mellitus' 'transient neonatal diabetes, dominant/recessive' SubClassOf 'perinatal disease' http://www.orpha.net/ORDO/Orphanet_3021 RAPADILINO syndrome 'RAPADILINO syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'RAPADILINO syndrome' SubClassOf 'Orofacial clefting syndrome' 'RAPADILINO syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'RAPADILINO syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85201 Genitopatellar syndrome 'Genitopatellar syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Genitopatellar syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Genitopatellar syndrome' SubClassOf 'Patellar dysostosis' 'Genitopatellar syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85200 Ischio-vertebral syndrome 'Ischio-vertebral syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Ischio-vertebral syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99802 Hemimegalencephaly 'Hemimegalencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Hemimegalencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_102020 Autosomal monosomy 'Autosomal monosomy' SubClassOf 'Autosomal anomaly' 'Autosomal monosomy' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_99806 Oculootodental syndrome 'Oculootodental syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Oculootodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculootodental syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3027 Caudal regression sequence 'Caudal regression sequence' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Caudal regression sequence' SubClassOf 'Syndromic anorectal malformation' 'Caudal regression sequence' SubClassOf 'Syndromic renal or urinary tract malformation' 'Caudal regression sequence' SubClassOf 'Syndromic urogenital tract malformation' 'Caudal regression sequence' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99807 PEHO-like syndrome 'PEHO-like syndrome' SubClassOf 'Epilepsy syndrome' 'PEHO-like syndrome' SubClassOf 'Syndromic lymphedema' 'PEHO-like syndrome' SubClassOf 'Rare genetic epilepsy' 'PEHO-like syndrome' SubClassOf 'genetic nervous system disorder' http://www.orpha.net/ORDO/Orphanet_99811 Neuronal intestinal pseudoobstruction 'Neuronal intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' 'Neuronal intestinal pseudoobstruction' SubClassOf 'Congenital intestinal motility disorder' http://www.orpha.net/ORDO/Orphanet_99810 Familial porencephaly 'Familial porencephaly' SubClassOf 'Porencephaly' 'Familial porencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3034 Delayed membranous cranial ossification 'Delayed membranous cranial ossification' SubClassOf 'Genetic cranial malformation' 'Delayed membranous cranial ossification' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Delayed membranous cranial ossification' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99812 LIG4 syndrome 'LIG4 syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'LIG4 syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_3038 Delayed speech - facial asymmetry - strabismus - ear lobe creases 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_99819 Familial gestational hyperthyroidism 'Familial gestational hyperthyroidism' SubClassOf 'Rare hyperthyroidism' 'Familial gestational hyperthyroidism' SubClassOf 'Genetic hypertension' 'Familial gestational hyperthyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0020060 diacylglycerol 36:1 measurement 'diacylglycerol 36:1 measurement' SubClassOf 'diglyceride measurement' 'diacylglycerol 36:1 measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0020061 diacylglycerol 36:2 measurement 'diacylglycerol 36:2 measurement' SubClassOf 'diglyceride measurement' 'diacylglycerol 36:2 measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_320406 Spastic paraplegia-optic atrophy-neuropathy syndrome 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'Hereditary motor and sensory neuropathy' 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'hereditary motor neuron disease' 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'has_disease_location' some 'motor neuron' http://www.orpha.net/ORDO/Orphanet_97249 Pontocerebellar hypoplasia type 3 'Pontocerebellar hypoplasia type 3' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Pontocerebellar hypoplasia type 3' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_320411 Autosomal recessive spastic paraplegia type 56 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_261476 Monosomy Xp21 'Monosomy Xp21' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'Monosomy Xp21' SubClassOf 'Chromosome X structural anomaly' http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy 'familial juvenile hyperuricemic nephropathy' SubClassOf 'kidney disease' 'familial juvenile hyperuricemic nephropathy' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_73272 Growth delay due to insulin-like growth factor type 1 deficiency 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_73273 Growth delay due to insulin-like growth factor I resistance 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'Growth hormone insensitivity syndrome' 'Growth delay due to insulin-like growth factor I resistance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_320401 Autosomal recessive spastic paraplegia type 44 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_73271 Bleeding diathesis due to a collagen receptor defect 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'Rare hemorrhagic disorder due to a platelet receptor defect' 'Bleeding diathesis due to a collagen receptor defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000620 breast benign neoplasm 'breast benign neoplasm' SubClassOf 'thoracic benign neoplasm' 'breast benign neoplasm' SubClassOf 'breast neoplasm' 'breast benign neoplasm' SubClassOf 'breast neoplasm' 'breast benign neoplasm' SubClassOf 'thoracic benign neoplasm' http://www.orpha.net/ORDO/Orphanet_3109 Mayer-Rokitansky-Küster-Hauser syndrome 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_3107 Autosomal dominant Robinow syndrome 'Autosomal dominant Robinow syndrome' SubClassOf 'Robinow syndrome' 'Autosomal dominant Robinow syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3104 Robin sequence - oligodactyly 'Robin sequence - oligodactyly' SubClassOf 'Orofacial clefting syndrome' 'Robin sequence - oligodactyly' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0000627 benign endocrine neoplasm 'benign endocrine neoplasm' SubClassOf 'endocrine neoplasm' 'benign endocrine neoplasm' SubClassOf 'benign neoplasm' 'benign endocrine neoplasm' SubClassOf 'endocrine neoplasm' 'benign endocrine neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000632 uterine benign neoplasm 'uterine benign neoplasm' SubClassOf 'uterine neoplasm' 'uterine benign neoplasm' SubClassOf 'uterine neoplasm' http://www.orpha.net/ORDO/Orphanet_3115 Roussy-Lévy syndrome 'Roussy-Lévy syndrome' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Roussy-Lévy syndrome' SubClassOf 'has_disease_location' some 'motor neuron' 'Roussy-Lévy syndrome' SubClassOf 'Rare genetic neurological disorder' 'Roussy-Lévy syndrome' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy 'polyhydramnios, megalencephaly, and symptomatic epilepsy' SubClassOf 'syndromic intellectual disability' 'polyhydramnios, megalencephaly, and symptomatic epilepsy' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0000634 thoracic benign neoplasm 'thoracic benign neoplasm' SubClassOf 'neoplasm of thorax' 'thoracic benign neoplasm' SubClassOf 'benign neoplasm' 'thoracic benign neoplasm' SubClassOf 'neoplasm of thorax' 'thoracic benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000643 vulvar benign neoplasm 'vulvar benign neoplasm' SubClassOf 'vulvar neoplasm' 'vulvar benign neoplasm' SubClassOf 'vulvar neoplasm' http://www.orpha.net/ORDO/Orphanet_99877 Familial parathyroid adenoma 'Familial parathyroid adenoma' SubClassOf 'parathyroid adenoma' 'Familial parathyroid adenoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000648 nervous system benign neoplasm 'nervous system benign neoplasm' SubClassOf 'benign neoplasm' 'nervous system benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000647 benign vaginal neoplasm 'benign vaginal neoplasm' SubClassOf 'Vaginal neoplasm' 'benign vaginal neoplasm' SubClassOf 'Vaginal neoplasm' http://purl.obolibrary.org/obo/MONDO_0024618 poliovirus infection 'poliovirus infection' SubClassOf 'Enterovirus infectious disease' 'poliovirus infection' SubClassOf 'Enterovirus infectious disease' http://www.orpha.net/ORDO/Orphanet_99879 Familial isolated hyperparathyroidism 'Familial isolated hyperparathyroidism' SubClassOf 'Familial primary hyperparathyroidism' 'Familial isolated hyperparathyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99878 Primary parathyroids hyperplasia 'Primary parathyroids hyperplasia' SubClassOf 'Familial primary hyperparathyroidism' 'Primary parathyroids hyperplasia' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Primary parathyroids hyperplasia' SubClassOf 'parathyroid disease' http://www.orpha.net/ORDO/Orphanet_85291 X-linked intellectual disability, Wittwer type 'X-linked intellectual disability, Wittwer type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Wittwer type' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_99886 Transient neonatal diabetes mellitus 'Transient neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' 'Transient neonatal diabetes mellitus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99880 Hyperparathyroidism-jaw tumor syndrome 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Familial primary hyperparathyroidism' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'parathyroid disease' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' http://www.orpha.net/ORDO/Orphanet_85287 X-linked intellectual disability, Siderius type 'X-linked intellectual disability, Siderius type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Siderius type' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_85286 X-linked intellectual disability, Shashi type 'X-linked intellectual disability, Shashi type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Shashi type' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_85289 X-linked intellectual disability, Vitale type 'X-linked intellectual disability, Vitale type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Vitale type' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_85288 X-linked intellectual disability, Stocco Dos Santos type 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024635 small intestine disorder 'small intestine disorder' SubClassOf 'intestinal disease' 'small intestine disorder' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0024634 large intestine disorder 'large intestine disorder' SubClassOf 'intestinal disease' 'large intestine disorder' SubClassOf 'intestinal disease' http://www.orpha.net/ORDO/Orphanet_97229 Riboflavin transporter deficiency 'Riboflavin transporter deficiency' SubClassOf 'Syndromic genetic deafness' 'Riboflavin transporter deficiency' SubClassOf 'Bulbospinal muscular atrophy of children' 'Riboflavin transporter deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85280 X-linked intellectual disability - cubitus valgus - dysmorphism 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0012640 Charcot-Marie-Tooth disease type 4J 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_97231 Ligneous conjunctivitis 'Ligneous conjunctivitis' SubClassOf 'conjunctivitis' 'Ligneous conjunctivitis' SubClassOf 'Rare conjunctival disease' 'Ligneous conjunctivitis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97232 Fingerprint body myopathy 'Fingerprint body myopathy' SubClassOf 'Congenital myopathy' 'Fingerprint body myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97234 Glycogen storage disease due to phosphoglycerate mutase deficiency 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm 'malignant soft tissue neoplasm' SubClassOf 'cancer' 'malignant soft tissue neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'malignant soft tissue neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'malignant soft tissue neoplasm' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0024636 inflammation of heart layer 'inflammation of heart layer' SubClassOf 'heart disease' 'inflammation of heart layer' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_85274 Syndromic X-linked intellectual disability 7 'Syndromic X-linked intellectual disability 7' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic X-linked intellectual disability 7' SubClassOf 'X-linked syndromic intellectual disability' 'Syndromic X-linked intellectual disability 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85273 X-linked intellectual disability, Abidi type 'X-linked intellectual disability, Abidi type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Abidi type' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0024620 meningitis caused by poliovirus 'meningitis caused by poliovirus' SubClassOf 'meningitis' 'meningitis caused by poliovirus' SubClassOf 'infectious meningitis' 'meningitis caused by poliovirus' SubClassOf 'infectious meningitis' http://www.orpha.net/ORDO/Orphanet_85275 Microphthalmia - ankyloblepharon - intellectual disability 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'anophthalmia-microphthalmia syndrome' http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease 'otorhinolaryngologic disease' SubClassOf 'disease' 'otorhinolaryngologic disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_85279 Syndromic X-linked intellectual disability due to JARID1C mutation 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_97238 Rippling muscle disease 'Rippling muscle disease' SubClassOf 'Qualitative or quantitative defects of caveolin-3' 'Rippling muscle disease' SubClassOf 'Non-dystrophic myopathy' 'Rippling muscle disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97239 Reducing body myopathy 'Reducing body myopathy' SubClassOf 'Congenital myopathy' 'Reducing body myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012658 brachydactyly type B2 'brachydactyly type B2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800093 http://www.orpha.net/ORDO/Orphanet_97242 Congenital muscular dystrophy 'Congenital muscular dystrophy' SubClassOf 'Muscular dystrophy' 'Congenital muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97244 Rigid spine syndrome 'Rigid spine syndrome' SubClassOf 'Congenital muscular dystrophy' 'Rigid spine syndrome' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Rigid spine syndrome' SubClassOf 'Qualitative or quantitative defects of desmin' 'Rigid spine syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97245 Congenital myopathy 'Congenital myopathy' SubClassOf 'Non-dystrophic myopathy' 'Congenital myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024626 defective phagocytic cell engulfment 'defective phagocytic cell engulfment' SubClassOf 'phagocytic cell dysfunction' 'defective phagocytic cell engulfment' SubClassOf 'phagocytic cell dysfunction' http://purl.obolibrary.org/obo/MONDO_0024625 disorder of lacrimal gland 'disorder of lacrimal gland' SubClassOf 'lacrimal apparatus disease' 'disorder of lacrimal gland' SubClassOf 'lacrimal apparatus disease' http://www.orpha.net/ORDO/Orphanet_97240 Zebra body myopathy 'Zebra body myopathy' SubClassOf 'Congenital myopathy' 'Zebra body myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024653 skull neoplasm 'skull neoplasm' SubClassOf 'head and neck neoplasia' 'skull neoplasm' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0024654 skull disorder 'skull disorder' SubClassOf 'bone disease' 'skull disorder' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0010007 microbrachycephaly-ptosis-cleft lip syndrome 'microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf 'syndromic intellectual disability' 'microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010006 Sandhoff disease 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0009020 macular corneal dystrophy 'macular corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'macular corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_319494 Familial nonmedullary thyroid carcinoma 'Familial nonmedullary thyroid carcinoma' SubClassOf 'thyroid carcinoma' 'Familial nonmedullary thyroid carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010002 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0024643 myocardial disorder 'myocardial disorder' SubClassOf 'heart disease' 'myocardial disorder' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0009028 Crane-Heise syndrome 'Crane-Heise syndrome' SubClassOf 'syndromic intellectual disability' 'Crane-Heise syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome 'Costello syndrome' SubClassOf 'syndromic intellectual disability' 'Costello syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009024 cortical blindness-intellectual disability-polydactyly syndrome 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'syndromic intellectual disability' 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia 'cranioectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'cranioectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010010 Schinzel-Giedion syndrome 'Schinzel-Giedion syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010011 schizencephaly 'schizencephaly' SubClassOf 'congenital nervous system disorder' 'schizencephaly' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010014 craniometadiaphyseal dysplasia, wormian bone type 'craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'primary bone dysplasia' 'craniometadiaphyseal dysplasia, wormian bone type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0010013 schneckenbecken dysplasia 'schneckenbecken dysplasia' SubClassOf 'osteochondrodysplasia' 'schneckenbecken dysplasia' SubClassOf 'spondylodysplastic dysplasia' 'schneckenbecken dysplasia' SubClassOf 'osteochondrodysplasia' 'schneckenbecken dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800080 http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis 'urolithiasis' SubClassOf 'urinary system disease' 'urolithiasis' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome 'Baller-Gerold syndrome' SubClassOf 'syndromic craniosynostosis' 'Baller-Gerold syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0010028 sialuria 'sialuria' SubClassOf 'disorder of sialic acid metabolism' 'sialuria' SubClassOf 'disorder of sialic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009036 cardiocranial syndrome, Pfeiffer type 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'syndromic intellectual disability' 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009033 temtamy syndrome 'temtamy syndrome' SubClassOf 'syndromic intellectual disability' 'temtamy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012683 pontocerebellar hypoplasia type 6 'pontocerebellar hypoplasia type 6' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 6' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0010027 free sialic acid storage disease, infantile form 'free sialic acid storage disease, infantile form' SubClassOf 'bone disease' 'free sialic acid storage disease, infantile form' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced 'hypertension, pregnancy-induced' SubClassOf 'hypertension' 'hypertension, pregnancy-induced' SubClassOf 'hypertension' http://purl.obolibrary.org/obo/MONDO_0010039 congenital heart defect-round face-developmental delay syndrome 'congenital heart defect-round face-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' 'congenital heart defect-round face-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome 'Fraser syndrome' SubClassOf 'autosomal recessive disease' 'Fraser syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0024660 tubular adenoma 'tubular adenoma' SubClassOf 'adenoma' 'tubular adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0009054 autosomal recessive cutis laxa type 2, classic type 'autosomal recessive cutis laxa type 2, classic type' SubClassOf 'autosomal recessive cutis laxa type 2A' 'autosomal recessive cutis laxa type 2, classic type' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0009053 ALDH18A1-related de Barsy syndrome 'ALDH18A1-related de Barsy syndrome' SubClassOf 'inherited cutis laxa' 'ALDH18A1-related de Barsy syndrome' SubClassOf 'inherited cutis laxa' http://www.orpha.net/ORDO/Orphanet_319480 Acute myeloid leukemia with CEBPA somatic mutations 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'inherited acute myeloid leukemia' 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia' 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_248408 Familial hypodysfibrinogenemia 'Familial hypodysfibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' 'Familial hypodysfibrinogenemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319487 Familial papillary or follicular thyroid carcinoma 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'Familial nonmedullary thyroid carcinoma' 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'Familial papillary or follicular thyroid carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009058 cystathioninuria 'cystathioninuria' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'cystathioninuria' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009063 ventriculomegaly-cystic kidney disease 'ventriculomegaly-cystic kidney disease' SubClassOf 'familial cystic renal disease' 'ventriculomegaly-cystic kidney disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome 'cystic fibrosis-gastritis-megaloblastic anemia syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_97290 Familial papillary thyroid carcinoma with renal papillary neoplasia 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'Familial nonmedullary thyroid carcinoma' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'has_disease_location' some 'thyroid gland' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'renal carcinoma' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria 'cystinuria' SubClassOf 'inborn disorder of amino acid absorption and transport' 'cystinuria' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'syndromic intellectual disability' 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010056 spinal muscular atrophy, type IV 'spinal muscular atrophy, type IV' SubClassOf 'proximal spinal muscular atrophy' 'spinal muscular atrophy, type IV' SubClassOf 'proximal spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_319465 Inherited acute myeloid leukemia 'Inherited acute myeloid leukemia' SubClassOf 'inherited acute myeloid leukemia' 'Inherited acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' 'Inherited acute myeloid leukemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009601 testicular disease 'testicular disease' SubClassOf 'male reproductive system disease' 'testicular disease' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009606 macular degeneration 'macular degeneration' SubClassOf 'retinal degeneration' 'macular degeneration' SubClassOf 'retinal degeneration' http://www.ebi.ac.uk/efo/EFO_0009607 pituitary gland disease 'pituitary gland disease' SubClassOf 'brain disease' 'pituitary gland disease' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0009608 stomach disease 'stomach disease' SubClassOf 'digestive system disease' 'stomach disease' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0009602 prostate disease 'prostate disease' SubClassOf 'male reproductive system disease' 'prostate disease' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009604 labyrinthitis 'labyrinthitis' SubClassOf 'inner ear disease' 'labyrinthitis' SubClassOf 'inflammatory disease' 'labyrinthitis' SubClassOf 'inner ear disease' 'labyrinthitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_0009605 pancreas disease 'pancreas disease' SubClassOf 'digestive system disease' 'pancreas disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0010068 spondyloepimetaphyseal dysplasia, sponastrime type 'spondyloepimetaphyseal dysplasia, sponastrime type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, sponastrime type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009080 split hand-foot malformation 1 with sensorineural hearing loss 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800090 http://purl.obolibrary.org/obo/MONDO_0010063 corneal-cerebellar syndrome 'corneal-cerebellar syndrome' SubClassOf 'eye degenerative disorder' 'corneal-cerebellar syndrome' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0010076 spondyloepimetaphyseal dysplasia, Irapa type 'spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'spondyloepiphyseal dysplasia' 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_0800086 http://purl.obolibrary.org/obo/MONDO_0010078 spondyloperipheral dysplasia-short ulna syndrome 'spondyloperipheral dysplasia-short ulna syndrome' SubClassOf 'type 2 collagenopathy' 'spondyloperipheral dysplasia-short ulna syndrome' SubClassOf 'hereditary disorder of connective tissue' 'spondyloperipheral dysplasia-short ulna syndrome' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0009095 dermatoosteolysis, Kirghizian type 'dermatoosteolysis, Kirghizian type' SubClassOf 'ectodermal dysplasia syndrome' 'dermatoosteolysis, Kirghizian type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly' SubClassOf 'autosomal recessive disease' 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010073 spondyloepiphyseal dysplasia tarda, Kohn type 'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0024499 vascular bone neoplasm 'vascular bone neoplasm' SubClassOf 'vascular neoplasm' 'vascular bone neoplasm' SubClassOf 'vascular neoplasm' http://www.orpha.net/ORDO/Orphanet_200421 Immunodeficiency with factor H anomaly 'Immunodeficiency with factor H anomaly' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Immunodeficiency with factor H anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009544 esophageal disease 'esophageal disease' SubClassOf 'digestive system disease' 'esophageal disease' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0009546 eye adnexa disease 'eye adnexa disease' SubClassOf 'disease of orbital region' 'eye adnexa disease' SubClassOf 'disease of orbital region' http://www.ebi.ac.uk/efo/EFO_0009540 dental pulp disease 'dental pulp disease' SubClassOf 'tooth disease' 'dental pulp disease' SubClassOf 'tooth disease' http://www.ebi.ac.uk/efo/EFO_0009542 disorder of appendix 'disorder of appendix' SubClassOf 'large intestine disorder' 'disorder of appendix' SubClassOf 'large intestine disorder' http://www.ebi.ac.uk/efo/EFO_0009547 eyelid disease 'eyelid disease' SubClassOf 'eye adnexa disease' 'eyelid disease' SubClassOf 'eye adnexa disease' http://www.ebi.ac.uk/efo/EFO_0009548 fallopian tube disease 'fallopian tube disease' SubClassOf 'female reproductive system disease' 'fallopian tube disease' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009549 female reproductive system disease 'female reproductive system disease' SubClassOf 'reproductive system disease' 'female reproductive system disease' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009533 basal ganglia disease 'basal ganglia disease' SubClassOf 'brain disease' 'basal ganglia disease' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0009535 binocular vision disease 'binocular vision disease' SubClassOf 'vision disorder' 'binocular vision disease' SubClassOf 'vision disorder' http://www.ebi.ac.uk/efo/EFO_0009536 blepharitis 'blepharitis' SubClassOf 'inflammatory disease' 'blepharitis' SubClassOf 'eyelid disease' 'blepharitis' SubClassOf 'inflammatory disease' 'blepharitis' SubClassOf 'eyelid disease' http://www.ebi.ac.uk/efo/EFO_0009537 cervical disc degenerative disorder 'cervical disc degenerative disorder' SubClassOf 'lumbar disc degeneration' 'cervical disc degenerative disorder' SubClassOf 'lumbar disc degeneration' http://www.ebi.ac.uk/efo/EFO_0009566 renal tubule disease 'renal tubule disease' SubClassOf 'kidney disease' 'renal tubule disease' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0009568 tricuspid valve disease 'tricuspid valve disease' SubClassOf 'heart valve disease' 'tricuspid valve disease' SubClassOf 'heart valve disease' http://www.ebi.ac.uk/efo/EFO_0009562 polyneuropathy 'polyneuropathy' SubClassOf 'peripheral neuropathy' 'polyneuropathy' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009563 protein energy malnutrition 'protein energy malnutrition' SubClassOf 'nutritional deficiency disease' 'protein energy malnutrition' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_0009564 pulmonary valve disease 'pulmonary valve disease' SubClassOf 'heart valve disease' 'pulmonary valve disease' SubClassOf 'heart valve disease' http://www.ebi.ac.uk/efo/EFO_0009569 trigeminal nerve disease 'trigeminal nerve disease' SubClassOf 'cranial nerve neuropathy' 'trigeminal nerve disease' SubClassOf 'peripheral nervous system disease' 'trigeminal nerve disease' SubClassOf 'cranial nerve neuropathy' 'trigeminal nerve disease' SubClassOf 'peripheral nervous system disease' http://www.orpha.net/ORDO/Orphanet_26793 Very long chain acyl-CoA dehydrogenase deficiency 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Muscular lipidosis' 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_26792 Short chain acyl-CoA dehydrogenase deficiency 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Muscular lipidosis' 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_26791 Multiple acyl-CoA dehydrogenase deficiency 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Muscular lipidosis' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009570 tympanic membrane disease 'tympanic membrane disease' SubClassOf 'middle ear disorder' 'tympanic membrane disease' SubClassOf 'middle ear disorder' http://www.ebi.ac.uk/efo/EFO_0009571 urinary tract obstruction 'urinary tract obstruction' SubClassOf 'urinary system disease' 'urinary tract obstruction' SubClassOf 'urinary system disease' http://www.ebi.ac.uk/efo/EFO_0009555 male reproductive system disease 'male reproductive system disease' SubClassOf 'reproductive system disease' 'male reproductive system disease' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009556 mineral metabolism disease 'mineral metabolism disease' SubClassOf 'metabolic disease' 'mineral metabolism disease' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0009557 mitral valve disease 'mitral valve disease' SubClassOf 'heart valve disease' 'mitral valve disease' SubClassOf 'heart valve disease' http://www.ebi.ac.uk/efo/EFO_0009551 heart valve disease 'heart valve disease' SubClassOf 'heart disease' 'heart valve disease' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_0009552 hemorrhoid 'hemorrhoid' SubClassOf 'pelvic varices' 'hemorrhoid' SubClassOf 'pelvic varices' http://www.ebi.ac.uk/efo/EFO_0009558 mononeuropathy 'mononeuropathy' SubClassOf 'peripheral neuropathy' 'mononeuropathy' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009559 nerve plexus disease 'nerve plexus disease' SubClassOf 'peripheral neuropathy' 'nerve plexus disease' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009560 otitis externa 'otitis externa' SubClassOf 'external ear disease' 'otitis externa' SubClassOf 'external ear disease' http://www.orpha.net/ORDO/Orphanet_99706 Progeria-associated arthropathy 'Progeria-associated arthropathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Progeria-associated arthropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0010565 myopathy, congenital, progressive, with scoliosis 'myopathy, congenital, progressive, with scoliosis' SubClassOf 'Congenital myopathy' 'myopathy, congenital, progressive, with scoliosis' SubClassOf 'Genetic skeletal muscle disease' http://www.ebi.ac.uk/efo/EFO_0009572 uterine inflammatory disease 'uterine inflammatory disease' SubClassOf 'uterine disorder' 'uterine inflammatory disease' SubClassOf 'uterine disorder' http://www.orpha.net/ORDO/Orphanet_99723 Familial esophageal achalasia 'Familial esophageal achalasia' SubClassOf 'Genetic gastro-esophageal disease' 'Familial esophageal achalasia' SubClassOf 'Rare genetic gastroenterological disease' 'Familial esophageal achalasia' SubClassOf 'esophageal disease' 'Familial esophageal achalasia' SubClassOf 'has_disease_location' some 'esophagus' http://www.orpha.net/ORDO/Orphanet_99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'participates_in' some (('cofactor transport' and ('has component' some 'abnormal')) or ('cofactor metabolic process' and ('has component' some 'abnormal'))) 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'Encephalopathy due to sulfite oxidase deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99731 Isolated sulfite oxidase deficiency 'Isolated sulfite oxidase deficiency' SubClassOf 'Encephalopathy due to sulfite oxidase deficiency' 'Isolated sulfite oxidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99734 Myotonia fluctuans 'Myotonia fluctuans' SubClassOf 'Potassium-aggravated myotonia' 'Myotonia fluctuans' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99736 Acetazolamide-responsive myotonia 'Acetazolamide-responsive myotonia' SubClassOf 'Potassium-aggravated myotonia' 'Acetazolamide-responsive myotonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99735 Myotonia permanens 'Myotonia permanens' SubClassOf 'Potassium-aggravated myotonia' 'Myotonia permanens' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99701 Mesial temporal lobe epilepsy with hippocampal sclerosis 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'familial partial epilepsy' 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'movement disorder' 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'Familial partial epilepsy' 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85146 Scapuloperoneal amyotrophy 'Scapuloperoneal amyotrophy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' http://www.orpha.net/ORDO/Orphanet_99796 Subcortical band heterotopia 'Subcortical band heterotopia' SubClassOf 'Non-syndromic cerebral malformation due to abnormal neuronal migration' 'Subcortical band heterotopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99797 Anodontia 'Anodontia' SubClassOf 'Rare odontal or periodontal disorder' 'Anodontia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99791 Dentin dysplasia type II 'Dentin dysplasia type II' SubClassOf 'Dentin dysplasia' 'Dentin dysplasia type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261337 Distal 22q11.2 microduplication syndrome 'Distal 22q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 22' 'Distal 22q11.2 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85136 Cystic leukoencephalopathy without megalencephaly 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'Leukodystrophy' 'Cystic leukoencephalopathy without megalencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261344 Trisomy 1q 'Trisomy 1q' SubClassOf 'Partial duplication of the long arm of chromosome 1' 'Trisomy 1q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319519 Combined oxidative phosphorylation defect type 14 'Combined oxidative phosphorylation defect type 14' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319514 Combined oxidative phosphorylation defect type 13 'Combined oxidative phosphorylation defect type 13' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 13' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261318 Trisomy 20p 'Trisomy 20p' SubClassOf 'Partial trisomy of chromosome 20' 'Trisomy 20p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85110 Familial encephalopathy with neuroserpin inclusion bodies 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'Progressive myoclonic epilepsy' 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319524 Combined oxidative phosphorylation defect type 15 'Combined oxidative phosphorylation defect type 15' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 15' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85186 Endosteal sclerosis - cerebellar hypoplasia 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_85188 Metaphyseal dysplasia, Braun-Tinschert type 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome 'camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf 'FGFR3-related chondrodysplasia' 'camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf 'FGFR3-related chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_85184 Craniometadiaphyseal dysplasia, wormian bone type 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'syndromic intellectual disability' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_99750 Atypical progressive supranuclear palsy 'Atypical progressive supranuclear palsy' SubClassOf 'Progressive supranuclear palsy' 'Atypical progressive supranuclear palsy' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Atypical progressive supranuclear palsy' SubClassOf 'Oculomotor palsy' 'Atypical progressive supranuclear palsy' SubClassOf 'mental or behavioural disorder' 'Atypical progressive supranuclear palsy' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) 'Atypical progressive supranuclear palsy' SubClassOf 'tauopathy' 'Atypical progressive supranuclear palsy' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' http://purl.obolibrary.org/obo/MONDO_0000530 rectum adenoma 'rectum adenoma' SubClassOf 'colorectal adenoma' 'rectum adenoma' SubClassOf 'colorectal adenoma' http://www.orpha.net/ORDO/Orphanet_85174 Pseudodiastrophic dysplasia 'Pseudodiastrophic dysplasia' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Pseudodiastrophic dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Pseudodiastrophic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319509 Combined oxidative phosphorylation defect type 9 'Combined oxidative phosphorylation defect type 9' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 9' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85179 Infantile osteopetrosis with neuroaxonal dysplasia 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'Osteopetrosis' 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012516 mandibulofacial dysostosis-microcephaly syndrome 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://www.orpha.net/ORDO/Orphanet_319504 Combined oxidative phosphorylation defect type 8 'Combined oxidative phosphorylation defect type 8' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85170 Mesomelic dysplasia, Savarirayan type 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dysplasia, Savarirayan type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99763 Familial hyperreninemic hypoaldosteronism type 1 'Familial hyperreninemic hypoaldosteronism type 1' SubClassOf 'Familial hypoaldosteronism' 'Familial hyperreninemic hypoaldosteronism type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99764 Familial hyperreninemic hypoaldosteronism type 2 'Familial hyperreninemic hypoaldosteronism type 2' SubClassOf 'Familial hypoaldosteronism' 'Familial hyperreninemic hypoaldosteronism type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000540 small intestinal neuroendocrine tumor G1 'small intestinal neuroendocrine tumor G1' SubClassOf 'intestinal neuroendocrine tumor G1' 'small intestinal neuroendocrine tumor G1' SubClassOf 'intestinal neuroendocrine tumor G1' http://www.orpha.net/ORDO/Orphanet_85163 Hypomyelination - congenital cataract 'Hypomyelination - congenital cataract' SubClassOf 'Syndromic cataract' 'Hypomyelination - congenital cataract' SubClassOf 'Leukodystrophy' 'Hypomyelination - congenital cataract' SubClassOf 'Rare cataract' http://www.orpha.net/ORDO/Orphanet_85166 Platyspondylic dysplasia, Torrance type 'Platyspondylic dysplasia, Torrance type' SubClassOf 'Spondylodysplastic dysplasia' 'Platyspondylic dysplasia, Torrance type' SubClassOf 'Type 2 collagen-related bone disorder' 'Platyspondylic dysplasia, Torrance type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85168 Craniofacial conodysplasia 'Craniofacial conodysplasia' SubClassOf 'Acromelic dysplasia' 'Craniofacial conodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85167 Spondylometaphyseal dysplasia - cone-rod dystrophy 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_85169 Familial digital arthropathy-brachydactyly 'Familial digital arthropathy-brachydactyly' SubClassOf 'Syndrome with brachydactyly' 'Familial digital arthropathy-brachydactyly' SubClassOf 'TRPV4-related bone disorder' 'Familial digital arthropathy-brachydactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85162 Facial onset sensory and motor neuronopathy 'Facial onset sensory and motor neuronopathy' SubClassOf 'Genetic neurodegenerative disease' 'Facial onset sensory and motor neuronopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99776 Mosaic trisomy 9 'Mosaic trisomy 9' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 9' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024503 digestive system neuroendocrine neoplasm 'digestive system neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'digestive system neuroendocrine neoplasm' SubClassOf 'digestive system neoplasm' 'digestive system neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'digestive system neuroendocrine neoplasm' SubClassOf 'digestive system neoplasm' http://www.orpha.net/ORDO/Orphanet_97120 Distal arthrogryposis 'Distal arthrogryposis' SubClassOf 'Arthrogryposis syndrome' 'Distal arthrogryposis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012531 xeroderma pigmentosum group B 'xeroderma pigmentosum group B' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group B' SubClassOf 'xeroderma pigmentosum' http://www.orpha.net/ORDO/Orphanet_99789 Dentin dysplasia type I 'Dentin dysplasia type I' SubClassOf 'Dentin dysplasia' 'Dentin dysplasia type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000565 infective endocarditis 'infective endocarditis' SubClassOf 'endocarditis' 'infective endocarditis' SubClassOf 'endocarditis' http://www.ebi.ac.uk/efo/EFO_1002001 core binding factor acute myeloid leukemia 'core binding factor acute myeloid leukemia' SubClassOf 'inherited acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1002000 Takotsubo cardiomyopathy 'Takotsubo cardiomyopathy' SubClassOf 'cardiomyopathy' 'Takotsubo cardiomyopathy' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0000569 autoimmune disorder of endocrine system 'autoimmune disorder of endocrine system' SubClassOf 'endocrine system disease' 'autoimmune disorder of endocrine system' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disorder of endocrine system' SubClassOf 'endocrine system disease' 'autoimmune disorder of endocrine system' SubClassOf 'type II hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_1002018 bronchial disease 'bronchial disease' SubClassOf 'lower respiratory tract disease' 'bronchial disease' SubClassOf 'lower respiratory tract disease' http://www.ebi.ac.uk/efo/EFO_1002013 alcoholic pancreatitis 'alcoholic pancreatitis' SubClassOf 'pancreatitis' 'alcoholic pancreatitis' SubClassOf 'alcohol-induced disorders' 'alcoholic pancreatitis' SubClassOf 'pancreatitis' 'alcoholic pancreatitis' SubClassOf 'alcohol-induced disorders' http://purl.obolibrary.org/obo/MONDO_0012552 multiple endocrine neoplasia type 4 'multiple endocrine neoplasia type 4' SubClassOf 'multiple endocrine neoplasia' 'multiple endocrine neoplasia type 4' SubClassOf 'multiple endocrine neoplasia' http://purl.obolibrary.org/obo/MONDO_0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'autosomal recessive disease' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'lactic acidosis' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'autosomal recessive disease' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'lactic acidosis' http://www.ebi.ac.uk/efo/EFO_1002028 cicatricial alopecia 'cicatricial alopecia' SubClassOf 'Alopecia' 'cicatricial alopecia' SubClassOf 'Rare genetic skin disease' 'cicatricial alopecia' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_1002022 Herpes simplex infection 'Herpes simplex infection' SubClassOf 'Herpesviridae infectious disease' 'Herpes simplex infection' SubClassOf 'Herpesviridae infectious disease' http://www.orpha.net/ORDO/Orphanet_319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85197 Genochondromatosis type 1 'Genochondromatosis type 1' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Genochondromatosis type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85196 Nodulosis-arthropathy-osteolysis syndrome 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'Multicentric osteolysis-nodulosis-arthropathy spectrum' 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_85199 Craniosynostosis - anal anomalies - porokeratosis 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Genetic cranial malformation' http://www.orpha.net/ORDO/Orphanet_85198 Dysspondyloenchondromatosis 'Dysspondyloenchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Dysspondyloenchondromatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 'hypertrophic osteoarthropathy, primary, autosomal recessive, 1' SubClassOf 'primary hypertrophic osteoarthropathy' 'hypertrophic osteoarthropathy, primary, autosomal recessive, 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 'hypertrophic osteoarthropathy, primary, autosomal recessive, 1' SubClassOf 'primary hypertrophic osteoarthropathy' http://www.ebi.ac.uk/efo/EFO_1002039 renal hypertension 'renal hypertension' SubClassOf 'secondary hypertension' 'renal hypertension' SubClassOf 'secondary hypertension' http://www.orpha.net/ORDO/Orphanet_85193 Idiopathic juvenile osteoporosis 'Idiopathic juvenile osteoporosis' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Idiopathic juvenile osteoporosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1002034 secondary hypertension 'secondary hypertension' SubClassOf 'hypertension' 'secondary hypertension' SubClassOf 'hypertension' http://www.orpha.net/ORDO/Orphanet_85195 Familial expansile osteolysis 'Familial expansile osteolysis' SubClassOf 'Primary osteolysis' 'Familial expansile osteolysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85194 Spondylo-ocular syndrome 'Spondylo-ocular syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Spondylo-ocular syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy 'familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' 'familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_261304 Paternal 20q13.2q13.3 microdeletion syndrome 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1002049 glomerular disease 'glomerular disease' SubClassOf 'kidney disease' 'glomerular disease' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1002048 kidney failure 'kidney failure' SubClassOf 'kidney disease' 'kidney failure' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1002047 spotted fever 'spotted fever' SubClassOf 'rickettsiosis' http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome 'Pitt-Hopkins syndrome' SubClassOf 'syndromic intellectual disability' 'Pitt-Hopkins syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1002051 facial nerve disease 'facial nerve disease' SubClassOf 'cranial nerve neuropathy' 'facial nerve disease' SubClassOf 'peripheral nervous system disease' 'facial nerve disease' SubClassOf 'cranial nerve neuropathy' 'facial nerve disease' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_1002050 nephritis 'nephritis' SubClassOf 'inflammatory disease' 'nephritis' SubClassOf 'kidney disease' 'nephritis' SubClassOf 'inflammatory disease' 'nephritis' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_248340 Isolated delta-storage pool disease 'Isolated delta-storage pool disease' SubClassOf 'Dense granule disease' 'Isolated delta-storage pool disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012591 osteogenesis imperfecta type 5 'osteogenesis imperfecta type 5' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta type 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://www.orpha.net/ORDO/Orphanet_319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024582 male reproductive system neoplasm 'male reproductive system neoplasm' SubClassOf 'male reproductive system disease' 'male reproductive system neoplasm' SubClassOf 'male reproductive system disease' http://www.orpha.net/ORDO/Orphanet_319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007202 cervical incompetence 'cervical incompetence' SubClassOf 'cervix disorder' 'cervical incompetence' SubClassOf 'cervix disorder' http://www.ebi.ac.uk/efo/EFO_0007204 chickenpox 'chickenpox' SubClassOf 'Varicella Zoster infection' 'chickenpox' SubClassOf 'Varicella Zoster infection' http://purl.obolibrary.org/obo/MONDO_0024361 circadian rhythm sleep disorder 'circadian rhythm sleep disorder' SubClassOf 'sleep-wake disorder' 'circadian rhythm sleep disorder' SubClassOf 'sleep-wake disorder' http://www.ebi.ac.uk/efo/EFO_0009855 frontal fibrosing alopecia 'frontal fibrosing alopecia' SubClassOf 'Alopecia' 'frontal fibrosing alopecia' SubClassOf 'Rare genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0009884 urinary sodium to potassium ratio 'urinary sodium to potassium ratio' SubClassOf 'urinary metabolite measurement' 'urinary sodium to potassium ratio' SubClassOf http://www.ebi.ac.uk/efo/EFO_0021522 http://www.ebi.ac.uk/efo/EFO_0007220 congenital toxoplasmosis 'congenital toxoplasmosis' SubClassOf 'toxoplasmosis' 'congenital toxoplasmosis' SubClassOf 'toxoplasmosis' http://www.ebi.ac.uk/efo/EFO_0007222 contagious pustular dermatitis 'contagious pustular dermatitis' SubClassOf 'viral disease' 'contagious pustular dermatitis' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0009883 urinary sodium to creatinine ratio 'urinary sodium to creatinine ratio' SubClassOf 'urinary metabolite measurement' 'urinary sodium to creatinine ratio' SubClassOf http://www.ebi.ac.uk/efo/EFO_0021522 http://www.ebi.ac.uk/efo/EFO_0007228 cryptococcal meningitis 'cryptococcal meningitis' SubClassOf 'fungal meningitis' 'cryptococcal meningitis' SubClassOf 'fungal meningitis' http://purl.obolibrary.org/obo/MONDO_0024392 anaerobic balanitis 'anaerobic balanitis' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic balanitis' SubClassOf 'anaerobic bacteria infectious disease' http://www.orpha.net/ORDO/Orphanet_319195 Chondroectodermal dysplasia with night blindness 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Rare genetic eye disease' 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Ectodermal dysplasia syndrome' 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Chondroectodermal dysplasia with night blindness' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319199 Autosomal recessive spastic paraplegia type 53 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_319192 Diencephalic-mesencephalic junction dysplasia 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'Genetic cerebral malformation' 'Diencephalic-mesencephalic junction dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007210 clonorchiasis 'clonorchiasis' SubClassOf 'Helminthiasis' 'clonorchiasis' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0024389 anaerobic bacteria infectious disease 'anaerobic bacteria infectious disease' SubClassOf 'bacterial disease' 'anaerobic bacteria infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0007219 congenital syphilis 'congenital syphilis' SubClassOf 'syphilis' 'congenital syphilis' SubClassOf 'syphilis' http://www.ebi.ac.uk/efo/EFO_0007243 Ebola hemorrhagic fever 'Ebola hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' 'Ebola hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' http://www.ebi.ac.uk/efo/EFO_0007247 echovirus infectious disease 'echovirus infectious disease' SubClassOf 'Enterovirus infectious disease' 'echovirus infectious disease' SubClassOf 'Enterovirus infectious disease' http://www.ebi.ac.uk/efo/EFO_0007246 echinostomiasis 'echinostomiasis' SubClassOf 'Helminthiasis' 'echinostomiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007250 encephalitozoonosis 'encephalitozoonosis' SubClassOf 'microsporidiosis' 'encephalitozoonosis' SubClassOf 'microsporidiosis' http://www.orpha.net/ORDO/Orphanet_210128 Urocanic aciduria 'Urocanic aciduria' SubClassOf 'Disorder of histidine metabolism' 'Urocanic aciduria' SubClassOf 'Neurometabolic disease' 'Urocanic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319171 Distal 17p13.1 microdeletion syndrome 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007232 cystoisosporiasis 'cystoisosporiasis' SubClassOf 'coccidiosis' 'cystoisosporiasis' SubClassOf 'coccidiosis' http://www.ebi.ac.uk/efo/EFO_0007230 cyclosporiasis 'cyclosporiasis' SubClassOf 'coccidiosis' 'cyclosporiasis' SubClassOf 'coccidiosis' http://www.ebi.ac.uk/efo/EFO_0007236 diffuse idiopathic skeletal hyperostosis 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'hyperostosis' 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'hyperostosis' http://www.ebi.ac.uk/efo/EFO_0007234 dicrocoeliasis 'dicrocoeliasis' SubClassOf 'Helminthiasis' 'dicrocoeliasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007233 diaphragm disease 'diaphragm disease' SubClassOf 'respiratory system disease' 'diaphragm disease' SubClassOf 'skeletal muscle disorder' 'diaphragm disease' SubClassOf 'skeletal muscle disorder' 'diaphragm disease' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0007239 dirofilariasis 'dirofilariasis' SubClassOf 'filariasis' 'dirofilariasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007237 dipetalonemiasis 'dipetalonemiasis' SubClassOf 'filariasis' 'dipetalonemiasis' SubClassOf 'filariasis' http://www.orpha.net/ORDO/Orphanet_210110 Intermediate osteopetrosis 'Intermediate osteopetrosis' SubClassOf 'Osteopetrosis' 'Intermediate osteopetrosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_210115 Sterile multifocal osteomyelitis with periostitis and pustulosis 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007264 ethmoid sinusitis 'ethmoid sinusitis' SubClassOf 'sinusitis' 'ethmoid sinusitis' SubClassOf 'sinusitis' http://www.ebi.ac.uk/efo/EFO_0007269 Felty's syndrome 'Felty's syndrome' SubClassOf 'rheumatoid arthritis' 'Felty's syndrome' SubClassOf 'rheumatoid arthritis' http://www.ebi.ac.uk/efo/EFO_0007268 fascioloidiasis 'fascioloidiasis' SubClassOf 'Helminthiasis' 'fascioloidiasis' SubClassOf 'Helminthiasis' http://www.orpha.net/ORDO/Orphanet_210144 Lethal polymalformative syndrome, Boissel type 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Lethal polymalformative syndrome, Boissel type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007272 filarial elephantiasis 'filarial elephantiasis' SubClassOf 'filariasis' 'filarial elephantiasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007251 endocardial fibroelastosis 'endocardial fibroelastosis' SubClassOf 'endocardium disorder' 'endocardial fibroelastosis' SubClassOf 'endocardium disorder' http://www.ebi.ac.uk/efo/EFO_0007259 epidemic pleurodynia 'epidemic pleurodynia' SubClassOf 'viral disease' 'epidemic pleurodynia' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_210133 Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'Syndromic nail anomaly' 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Syndromic epicanthus' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Early-onset ataxia with dementia' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'has_disease_location' some 'motor neuron' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Rare hereditary ataxia' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'hereditary motor neuron disease' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Rare palpebral disease' http://www.ebi.ac.uk/efo/EFO_0007261 epiglottitis 'epiglottitis' SubClassOf 'upper respiratory tract disorder' 'epiglottitis' SubClassOf 'upper respiratory tract disorder' http://www.orpha.net/ORDO/Orphanet_319160 Congenital myopathy with internal nuclei and atypical cores 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'Congenital myopathy with cores' 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3289 Taurodontism 'Taurodontism' SubClassOf 'Rare odontal or periodontal disorder' 'Taurodontism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295081 Fibular hemimelia, unilateral 'Fibular hemimelia, unilateral' SubClassOf 'Fibular hemimelia' 'Fibular hemimelia, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'Genetic cardiac rhythm disease' 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295085 Congenital absence of upper arm and forearm with hand present, unilateral 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'Congenital absence of upper arm and forearm with hand present' 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'Genetic congenital limb malformation' 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.ebi.ac.uk/efo/EFO_0007289 gnathomiasis 'gnathomiasis' SubClassOf 'Helminthiasis' 'gnathomiasis' SubClassOf 'Helminthiasis' http://www.orpha.net/ORDO/Orphanet_295083 Fibular hemimelia, bilateral 'Fibular hemimelia, bilateral' SubClassOf 'Fibular hemimelia' 'Fibular hemimelia, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295089 Congenital absence of thigh and lower leg with foot present, unilateral 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'Congenital absence of thigh and lower leg with foot present' 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295087 Congenital absence of upper arm and forearm with hand present, bilateral 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'Congenital absence of upper arm and forearm with hand present' 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'Genetic congenital limb malformation' 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.ebi.ac.uk/efo/EFO_0007290 Goodpasture syndrome 'Goodpasture syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'Goodpasture syndrome' SubClassOf 'type II hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_295093 Congenital absence of both forearm and hand, unilateral 'Congenital absence of both forearm and hand, unilateral' SubClassOf 'Congenital absence of both forearm and hand' 'Congenital absence of both forearm and hand, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295091 Congenital absence of thigh and lower leg with foot present, bilateral 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'Congenital absence of thigh and lower leg with foot present' 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295097 Congenital absence of both lower leg and foot, unilateral 'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'Congenital absence of both lower leg and foot' 'Congenital absence of both lower leg and foot, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295095 Congenital absence of both forearm and hand, bilateral 'Congenital absence of both forearm and hand, bilateral' SubClassOf 'Congenital absence of both forearm and hand' 'Congenital absence of both forearm and hand, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3294 Extensor tendons of finger anomalies 'Extensor tendons of finger anomalies' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Extensor tendons of finger anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3293 Telecanthus - hypertelorism - strabismus - pes cavus 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_295099 Congenital absence of both lower leg and foot, bilateral 'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'Congenital absence of both lower leg and foot' 'Congenital absence of both lower leg and foot, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_165805 Familial mesial temporal lobe epilepsy with febrile seizures 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'Familial partial epilepsy' 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007283 geographic tongue 'geographic tongue' SubClassOf 'atrophic glossitis' 'geographic tongue' SubClassOf 'atrophic glossitis' http://www.ebi.ac.uk/efo/EFO_0007282 genital herpes 'genital herpes' SubClassOf 'Herpes simplex infection' 'genital herpes' SubClassOf 'Herpes simplex infection' http://www.ebi.ac.uk/efo/EFO_0007281 geniculate herpes zoster 'geniculate herpes zoster' SubClassOf 'viral infection of central nervous system' 'geniculate herpes zoster' SubClassOf 'Bell's palsy' http://www.ebi.ac.uk/efo/EFO_0007280 gastrointestinal tuberculosis 'gastrointestinal tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007296 hantavirus pulmonary syndrome 'hantavirus pulmonary syndrome' SubClassOf 'Hantavirus infectious disease' 'hantavirus pulmonary syndrome' SubClassOf 'Hantavirus infectious disease' http://www.ebi.ac.uk/efo/EFO_0007295 Hantavirus infectious disease 'Hantavirus infectious disease' SubClassOf 'Bunyaviridae infectious disease' 'Hantavirus infectious disease' SubClassOf 'Bunyaviridae infectious disease' http://www.orpha.net/ORDO/Orphanet_3241 Deafness-craniofacial syndrome 'Deafness-craniofacial syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-craniofacial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Deafness-craniofacial syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295041 Patella aplasia/hypoplasia, bilateral 'Patella aplasia/hypoplasia, bilateral' SubClassOf 'Patella aplasia/hypoplasia' 'Patella aplasia/hypoplasia, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3240 Central nervous system calcification - deafness - tubular acidosis - anemia 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'Primary renal tubular acidosis' 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'Genetic renal tubular disease' 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'renal tubule disease' http://www.orpha.net/ORDO/Orphanet_295044 Macrodactyly of fingers 'Macrodactyly of fingers' SubClassOf 'Limb overgrowth' 'Macrodactyly of fingers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295049 Upper limb hypertrophy 'Upper limb hypertrophy' SubClassOf 'Limb overgrowth' 'Upper limb hypertrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3248 Distal symphalangism 'Distal symphalangism' SubClassOf 'Joint formation defects' 'Distal symphalangism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295047 Macrodactyly of toes 'Macrodactyly of toes' SubClassOf 'Limb overgrowth' 'Macrodactyly of toes' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3246 Symphalangism with multiple anomalies of hands and feet 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Symphalangism with multiple anomalies of hands and feet' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85458 Hereditary cerebral hemorrhage with amyloidosis 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_3253 Zlotogora-Ogur syndrome 'Zlotogora-Ogur syndrome' SubClassOf 'Orofacial clefting syndrome' 'Zlotogora-Ogur syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_295053 Amelia of upper limb, unilateral 'Amelia of upper limb, unilateral' SubClassOf 'Amelia of upper limb' 'Amelia of upper limb, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85453 X-linked reticulate pigmentary disorder with systemic manifestations 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Syndromic corneal dystrophy' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'corneal disease' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Rare genetic eye disease' http://www.orpha.net/ORDO/Orphanet_295051 Lower limb hypertrophy 'Lower limb hypertrophy' SubClassOf 'Limb overgrowth' 'Lower limb hypertrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3250 Proximal symphalangism 'Proximal symphalangism' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Proximal symphalangism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295057 Amelia of lower limb, unilateral 'Amelia of lower limb, unilateral' SubClassOf 'Amelia of lower limb' 'Amelia of lower limb, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295055 Amelia of upper limb, bilateral 'Amelia of upper limb, bilateral' SubClassOf 'Amelia of upper limb' 'Amelia of upper limb, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3259 Syndactyly-polydactyly-ear lobe syndrome 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295059 Amelia of lower limb, bilateral 'Amelia of lower limb, bilateral' SubClassOf 'Amelia of lower limb' 'Amelia of lower limb, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85448 Familial amyloidosis, Finnish type 'Familial amyloidosis, Finnish type' SubClassOf 'Syndromic corneal dystrophy' 'Familial amyloidosis, Finnish type' SubClassOf 'corneal disease' 'Familial amyloidosis, Finnish type' SubClassOf 'Rare genetic eye disease' http://www.orpha.net/ORDO/Orphanet_3267 Familial lambdoid synostosis 'Familial lambdoid synostosis' SubClassOf 'Isolated craniosynostosis' 'Familial lambdoid synostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3266 Humero-radio-ulnar synostosis 'Humero-radio-ulnar synostosis' SubClassOf 'Joint formation defects' 'Humero-radio-ulnar synostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3265 Humero-radial synostosis 'Humero-radial synostosis' SubClassOf 'Joint formation defects' 'Humero-radial synostosis' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_3263 Syngnathia - cleft palate 'Syngnathia - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Syngnathia - cleft palate' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_295063 Humeral agenesis/hypoplasia, bilateral 'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'Humeral agenesis/hypoplasia' 'Humeral agenesis/hypoplasia, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3262 Syngnathia multiple anomalies 'Syngnathia multiple anomalies' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Syngnathia multiple anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3261 Autoimmune lymphoproliferative syndrome 'Autoimmune lymphoproliferative syndrome' SubClassOf 'Lymphoproliferative syndrome' 'Autoimmune lymphoproliferative syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Autoimmune lymphoproliferative syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295061 Humeral agenesis/hypoplasia, unilateral 'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'Humeral agenesis/hypoplasia' 'Humeral agenesis/hypoplasia, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295067 Femoral agenesis/hypoplasia, bilateral 'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'Femoral agenesis/hypoplasia' 'Femoral agenesis/hypoplasia, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295065 Femoral agenesis/hypoplasia, unilateral 'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'Femoral agenesis/hypoplasia' 'Femoral agenesis/hypoplasia, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295069 Radial hemimelia, unilateral 'Radial hemimelia, unilateral' SubClassOf 'Radial hemimelia' 'Radial hemimelia, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3268 Synostosis - microcephaly - scoliosis 'Synostosis - microcephaly - scoliosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Synostosis - microcephaly - scoliosis' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Synostosis - microcephaly - scoliosis' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_295071 Radial hemimelia, bilateral 'Radial hemimelia, bilateral' SubClassOf 'Radial hemimelia' 'Radial hemimelia, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3275 Spondylocarpotarsal synostosis 'Spondylocarpotarsal synostosis' SubClassOf 'Filamin-related bone disorder' 'Spondylocarpotarsal synostosis' SubClassOf 'Spondylodysplastic dysplasia' 'Spondylocarpotarsal synostosis' SubClassOf 'Primary bone dysplasia' 'Spondylocarpotarsal synostosis' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_295075 Ulnar hemimelia, unilateral 'Ulnar hemimelia, unilateral' SubClassOf 'Ulnar hemimelia' 'Ulnar hemimelia, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295073 Ulnar hemimelia, bilateral 'Ulnar hemimelia, bilateral' SubClassOf 'Ulnar hemimelia' 'Ulnar hemimelia, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295079 Tibial hemimelia, bilateral 'Tibial hemimelia, bilateral' SubClassOf 'Tibial hemimelia' 'Tibial hemimelia, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295077 Tibial hemimelia, unilateral 'Tibial hemimelia, unilateral' SubClassOf 'Tibial hemimelia' 'Tibial hemimelia, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3270 Radio-ulnar synostosis - intellectual disability - hypotonia 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_309851 Disorder of manganese transport 'Disorder of manganese transport' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of manganese transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295002 Hyperphalangy 'Hyperphalangy' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'Hyperphalangy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3329 Tibial aplasia - ectrodactyly 'Tibial aplasia - ectrodactyly' SubClassOf 'Orofacial clefting syndrome' 'Tibial aplasia - ectrodactyly' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_295000 Constriction rings syndrome 'Constriction rings syndrome' SubClassOf 'Amniotic bands' 'Constriction rings syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3328 Absent tibia - polydactyly - arachnoid cyst 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_3327 Thyrocerebrorenal syndrome 'Thyrocerebrorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Thyrocerebrorenal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3326 Thymic-renal-anal-lung dysplasia 'Thymic-renal-anal-lung dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Thymic-renal-anal-lung dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' 'Thymic-renal-anal-lung dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295004 Central polydactyly of fingers 'Central polydactyly of fingers' SubClassOf 'Polydactyly' 'Central polydactyly of fingers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3324 Familial thrombomodulin anomalies 'Familial thrombomodulin anomalies' SubClassOf 'Rare thrombotic disorder due to a constitutional coagulation factors defect' 'Familial thrombomodulin anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3323 Thrombocytopenia - Robin sequence 'Thrombocytopenia - Robin sequence' SubClassOf 'Orofacial clefting syndrome' 'Thrombocytopenia - Robin sequence' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'Disorder of manganese transport' 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_295012 Syndactyly type 6 'Syndactyly type 6' SubClassOf 'Syndactyly' 'Syndactyly type 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295010 Central polydactyly of toes 'Central polydactyly of toes' SubClassOf 'Polydactyly' 'Central polydactyly of toes' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Central polydactyly of toes' SubClassOf 'Genetic congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_3337 Primary Fanconi syndrome 'Primary Fanconi syndrome' SubClassOf 'renal tubule disease' 'Primary Fanconi syndrome' SubClassOf 'Genetic renal tubular disease' 'Primary Fanconi syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295016 Camptodactyly of fingers 'Camptodactyly of fingers' SubClassOf 'Congenital deformities of fingers' 'Camptodactyly of fingers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295014 Familial isolated clinodactyly of fingers 'Familial isolated clinodactyly of fingers' SubClassOf 'Congenital deformities of fingers' 'Familial isolated clinodactyly of fingers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295008 Postaxial polydactyly of toes 'Postaxial polydactyly of toes' SubClassOf 'Polydactyly' 'Postaxial polydactyly of toes' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Postaxial polydactyly of toes' SubClassOf 'Genetic congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_3342 Arterial tortuosity syndrome 'Arterial tortuosity syndrome' SubClassOf 'Cutis laxa' 'Arterial tortuosity syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Arterial tortuosity syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3341 Torticollis - keloids - cryptorchidism - renal dysplasia 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'Syndromic urogenital tract malformation' 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_295020 Congenital pseudoarthrosis of the femur 'Congenital pseudoarthrosis of the femur' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the femur' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295024 Congenital pseudoarthrosis of the radius 'Congenital pseudoarthrosis of the radius' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the radius' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295022 Congenital pseudoarthrosis of the fibula 'Congenital pseudoarthrosis of the fibula' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the fibula' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295028 Tibio-fibular synostosis 'Tibio-fibular synostosis' SubClassOf 'Joint formation defects' 'Tibio-fibular synostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295026 Congenital pseudoarthrosis of the ulna 'Congenital pseudoarthrosis of the ulna' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the ulna' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309839 Disorder of copper metabolism 'Disorder of copper metabolism' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of copper metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295018 Congenital pseudoarthrosis of the tibia 'Congenital pseudoarthrosis of the tibia' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the tibia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309833 Disorder of other vitamins and cofactors metabolism and transport 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309830 Disorder of catecholamine synthesis 'Disorder of catecholamine synthesis' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Disorder of catecholamine synthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309836 Disorder of mineral absorption and transport 'Disorder of mineral absorption and transport' SubClassOf 'Disorder of metabolite absorption and transport' 'Disorder of mineral absorption and transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3355 Trichoodontoonychial dysplasia 'Trichoodontoonychial dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichoodontoonychial dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Trichoodontoonychial dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3354 Tricho-oculo-dermo-vertebral syndrome 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3353 Trichodermodysplasia - dental alterations 'Trichodermodysplasia - dental alterations' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichodermodysplasia - dental alterations' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Trichodermodysplasia - dental alterations' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_3352 Tricho-dento-osseous syndrome 'Tricho-dento-osseous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Tricho-dento-osseous syndrome' SubClassOf 'Primary bone dysplasia with increased bone density' 'Tricho-dento-osseous syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Tricho-dento-osseous syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Tricho-dento-osseous syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3351 Trichodental syndrome 'Trichodental syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Trichodental syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Trichodental syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295030 Congenital shoulder dislocation 'Congenital shoulder dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital shoulder dislocation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295034 Congenital knee dislocation 'Congenital knee dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital knee dislocation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295032 Congenital elbow dislocation 'Congenital elbow dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital elbow dislocation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295038 Patella aplasia/hypoplasia, unilateral 'Patella aplasia/hypoplasia, unilateral' SubClassOf 'Patella aplasia/hypoplasia' 'Patella aplasia/hypoplasia, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3357 Autosomal dominant trichoodontoonychodysplasia-syndactyly 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'Ectodermal dysplasia syndrome' 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295036 Congenital patella dislocation 'Congenital patella dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital patella dislocation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309842 Disorder of iron metabolism and transport 'Disorder of iron metabolism and transport' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of iron metabolism and transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309848 Disorder of magnesium transport 'Disorder of magnesium transport' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of magnesium transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309845 Disorder of zinc metabolism 'Disorder of zinc metabolism' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of zinc metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309819 Disorder of pterin metabolism 'Disorder of pterin metabolism' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Disorder of pterin metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309813 Disorder of porphyrin and haem metabolism 'Disorder of porphyrin and haem metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of porphyrin and haem metabolism' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Disorder of porphyrin and haem metabolism' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_309827 Disorder of vitamin and non-protein cofactor absorption and transport  'Disorder of vitamin and non-protein cofactor absorption and transport ' SubClassOf 'Disorder of metabolite absorption and transport' 'Disorder of vitamin and non-protein cofactor absorption and transport ' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Disorder of vitamin and non-protein cofactor absorption and transport ' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_309824 Disorder of metabolite absorption and transport 'Disorder of metabolite absorption and transport' SubClassOf 'Inborn errors of metabolism' 'Disorder of metabolite absorption and transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_285657 Disorder of folate metabolism and transport 'Disorder of folate metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of folate metabolism and transport' SubClassOf 'participates_in' some (('folic acid transport' and ('has component' some 'abnormal')) or ('folic acid metabolic process' and ('has component' some 'abnormal'))) 'Disorder of folate metabolism and transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3307 Tetrasomy 18p 'Tetrasomy 18p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 18' 'Tetrasomy 18p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3306 Duplication/inversion 15q11 'Duplication/inversion 15q11' SubClassOf 'Rare disease with autism' 'Duplication/inversion 15q11' SubClassOf 'Complex chromosomal rearrangement' 'Duplication/inversion 15q11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3305 Tetraploidy 'Tetraploidy' SubClassOf 'Polyploidy' 'Tetraploidy' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_3304 Fallot complex - intellectual disability - growth delay 'Fallot complex - intellectual disability - growth delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fallot complex - intellectual disability - growth delay' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_3301 Tetraamelia - multiple malformations 'Tetraamelia - multiple malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012401 congenital stromal corneal dystrophy 'congenital stromal corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'congenital stromal corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease 'autosomal dominant disease' SubClassOf 'autosomal genetic disease' 'autosomal dominant disease' SubClassOf 'autosomal genetic disease' http://purl.obolibrary.org/obo/MONDO_0000430 mature T-cell and NK-cell non-Hodgkin lymphoma 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://www.orpha.net/ORDO/Orphanet_3310 Tetrasomy 9p 'Tetrasomy 9p' SubClassOf 'Partial trisomy of the short arm of chromosome 9' 'Tetrasomy 9p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3319 Congenital amegakaryocytic thrombocytopenia 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'inherited aplastic anemia' 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'Rare constitutional medullar aplasia' 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Congenital amegakaryocytic thrombocytopenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3317 Thoracolaryngopelvic dysplasia 'Thoracolaryngopelvic dysplasia' SubClassOf 'Genetic respiratory malformation' 'Thoracolaryngopelvic dysplasia' SubClassOf 'Short rib dysplasia' 'Thoracolaryngopelvic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3315 Thiopurine S-methyltransferase deficiency 'Thiopurine S-methyltransferase deficiency' SubClassOf 'Disorder of purine metabolism' 'Thiopurine S-methyltransferase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3309 Tetrasomy 5p 'Tetrasomy 5p' SubClassOf 'Trisomy 5p' 'Tetrasomy 5p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia 'cerebellar ataxia' SubClassOf 'cerebellar disorder' 'cerebellar ataxia' SubClassOf 'cerebellar disorder' http://www.orpha.net/ORDO/Orphanet_309803 Rhizomelic chondrodysplasia punctata type 3 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024414 anaerobic cellulitis 'anaerobic cellulitis' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic cellulitis' SubClassOf 'anaerobic bacteria infectious disease' http://www.orpha.net/ORDO/Orphanet_199282 Harlequin syndrome 'Harlequin syndrome' SubClassOf 'autonomic nervous system disease' 'Harlequin syndrome' SubClassOf 'genetic nervous system disorder' 'Harlequin syndrome' SubClassOf 'Rare genetic neurological disorder' 'Harlequin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199285 Hereditary hypercarotenemia and vitamin A deficiency 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'participates_in' some (('vitamin A metabolic process' and ('has component' some 'abnormal')) and ('carotene metabolic process' and ('has component' some 'abnormal'))) 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'vitamin metabolic disorder' 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012423 MORM syndrome 'MORM syndrome' SubClassOf 'inherited retinal dystrophy' 'MORM syndrome' SubClassOf 'inherited retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_209047 Qualitative or quantitative defects of filamin C 'Qualitative or quantitative defects of filamin C' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of filamin C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024419 enthesitis 'enthesitis' SubClassOf 'enthesopathy' 'enthesitis' SubClassOf 'enthesopathy' http://www.orpha.net/ORDO/Orphanet_209044 Qualitative or quantitative defects of alphaB-cristallin 'Qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of alphaB-cristallin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209041 Qualitative or quantitative defects of desmin 'Qualitative or quantitative defects of desmin' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of desmin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209059 Qualitative or quantitative defects of alpha-actin 'Qualitative or quantitative defects of alpha-actin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of alpha-actin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012438 pontocerebellar hypoplasia type 5 'pontocerebellar hypoplasia type 5' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 5' SubClassOf 'pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_209050 Qualitative or quantitative defects of protein ZASP 'Qualitative or quantitative defects of protein ZASP' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of protein ZASP' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012435 3-methylglutaconic aciduria type 5 '3-methylglutaconic aciduria type 5' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 5' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0012436 neonatal diabetes mellitus with congenital hypothyroidism 'neonatal diabetes mellitus with congenital hypothyroidism' SubClassOf 'familial cystic renal disease' http://www.orpha.net/ORDO/Orphanet_199276 Familial multiple lipomatosis 'Familial multiple lipomatosis' SubClassOf 'Genetic subcutaneous tissue disorder' 'Familial multiple lipomatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199279 Familial angiolipomatosis 'Familial angiolipomatosis' SubClassOf 'Genetic subcutaneous tissue disorder' 'Familial angiolipomatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209056 Qualitative or quantitative defects of telethonin 'Qualitative or quantitative defects of telethonin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of telethonin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209053 Qualitative or quantitative defects of titin 'Qualitative or quantitative defects of titin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of titin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease 'bilirubin metabolism disease' SubClassOf 'metabolic disease' 'bilirubin metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000461 nutritional biotin deficiency 'nutritional biotin deficiency' SubClassOf 'vitamin deficiency disorder' 'nutritional biotin deficiency' SubClassOf 'vitamin deficiency disorder' http://purl.obolibrary.org/obo/MONDO_0000468 third-degree atrioventricular block 'third-degree atrioventricular block' SubClassOf 'atrioventricular block' 'third-degree atrioventricular block' SubClassOf 'atrioventricular block' http://www.ebi.ac.uk/efo/EFO_0009809 single nucleus RNA sequencing 'single nucleus RNA sequencing' SubClassOf 'assay by sequencer' 'single nucleus RNA sequencing' SubClassOf 'RNA assay' http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder 'arterial disorder' SubClassOf 'vascular disease' 'arterial disorder' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0000477 focal dystonia 'focal dystonia' SubClassOf 'dystonic disorder' 'focal dystonia' SubClassOf 'dystonic disorder' http://purl.obolibrary.org/obo/MONDO_0000476 generalized dystonia 'generalized dystonia' SubClassOf 'dystonic disorder' 'generalized dystonia' SubClassOf 'dystonic disorder' http://purl.obolibrary.org/obo/MONDO_0000470 endocardium disorder 'endocardium disorder' SubClassOf 'heart disease' 'endocardium disorder' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0012455 Kleefstra syndrome 'Kleefstra syndrome' SubClassOf 'syndromic intellectual disability' 'Kleefstra syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012456 congenital primary aphakia 'congenital primary aphakia' SubClassOf 'lens disease' 'congenital primary aphakia' SubClassOf 'lens disease' http://purl.obolibrary.org/obo/MONDO_0000485 spasmodic dystonia 'spasmodic dystonia' SubClassOf 'focal dystonia' 'spasmodic dystonia' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0000481 cervical dystonia 'cervical dystonia' SubClassOf 'focal dystonia' 'cervical dystonia' SubClassOf 'focal dystonia' http://www.orpha.net/ORDO/Orphanet_199247 Corticosteroid-binding globulin deficiency 'Corticosteroid-binding globulin deficiency' SubClassOf 'Rare genetic adrenal disease' 'Corticosteroid-binding globulin deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009812 secondary malignant neoplasm 'secondary malignant neoplasm' SubClassOf 'cancer' 'secondary malignant neoplasm' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0000490 glomerulosclerosis 'glomerulosclerosis' SubClassOf 'glomerular disease' 'glomerulosclerosis' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/MONDO_0012475 cone dystrophy with supernormal rod response 'cone dystrophy with supernormal rod response' SubClassOf 'cone dystrophy' 'cone dystrophy with supernormal rod response' SubClassOf 'cone dystrophy' http://purl.obolibrary.org/obo/MONDO_0024468 anterior pituitary gland disorder 'anterior pituitary gland disorder' SubClassOf 'pituitary gland disease' 'anterior pituitary gland disorder' SubClassOf 'pituitary gland disease' http://purl.obolibrary.org/obo/MONDO_0012495 spondyloepimetaphyseal dysplasia, Genevieve type 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepiphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0010828 myofibrillar myopathy 9 with early respiratory failure 'myofibrillar myopathy 9 with early respiratory failure' SubClassOf 'Myofibrillar myopathy' 'myofibrillar myopathy 9 with early respiratory failure' SubClassOf 'Genetic skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0024255 genetic skin disease 'genetic skin disease' SubClassOf 'genetic disorder' 'genetic skin disease' SubClassOf 'skin disease' 'genetic skin disease' SubClassOf 'genetic disorder' 'genetic skin disease' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome 'global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009732 enthesitis-related juvenile idiopathic arthritis 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://www.ebi.ac.uk/efo/EFO_0009733 psoriasis-related juvenile idiopathic arthritis 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://www.ebi.ac.uk/efo/EFO_0009739 technician 'technician' SubClassOf 'characteristic of' some 'Homo sapiens' 'technician' SubClassOf 'role_of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010723 ocular sarcoidosis 'ocular sarcoidosis' SubClassOf 'Sarcoidosis' 'ocular sarcoidosis' SubClassOf 'lung disease' 'ocular sarcoidosis' SubClassOf 'has_disease_location' some 'lung' http://purl.obolibrary.org/obo/MONDO_0012274 acromesomelic dysplasia 3 'acromesomelic dysplasia 3' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 3' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0012271 mesoaxial synostotic syndactyly with phalangeal reduction 'mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0024271 intestinal helminthiasis 'intestinal helminthiasis' SubClassOf 'Helminthiasis' 'intestinal helminthiasis' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0012280 Goldberg-Shprintzen megacolon syndrome 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'syndromic intellectual disability' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012290 CEDNIK syndrome 'CEDNIK syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'CEDNIK syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder 'vitamin deficiency disorder' SubClassOf 'nutritional deficiency disease' 'vitamin deficiency disorder' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_0007129 acute chest syndrome 'acute chest syndrome' SubClassOf 'lung disease' 'acute chest syndrome' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/MONDO_0024280 polyarticular arthritis 'polyarticular arthritis' SubClassOf 'arthritis' 'polyarticular arthritis' SubClassOf 'arthritis' http://www.ebi.ac.uk/efo/EFO_0007147 anogenital venereal wart 'anogenital venereal wart' SubClassOf 'human papilloma virus infection' 'anogenital venereal wart' SubClassOf 'human papilloma virus infection' http://www.orpha.net/ORDO/Orphanet_209027 Qualitative or quantitative defects of protein glycosyltransferase-like 'Qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007151 Arenavirus hemorrhagic fever 'Arenavirus hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' 'Arenavirus hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' http://www.ebi.ac.uk/efo/EFO_0007132 acute hemorrhagic leukoencephalitis 'acute hemorrhagic leukoencephalitis' SubClassOf 'acute disseminated encephalomyelitis' 'acute hemorrhagic leukoencephalitis' SubClassOf 'acute disseminated encephalomyelitis' http://www.ebi.ac.uk/efo/EFO_0007131 acute hemorrhagic conjunctivitis 'acute hemorrhagic conjunctivitis' SubClassOf 'acute conjunctivitis' 'acute hemorrhagic conjunctivitis' SubClassOf 'acute conjunctivitis' http://www.ebi.ac.uk/efo/EFO_0007135 adult-onset Still's disease 'adult-onset Still's disease' SubClassOf 'arthritis' 'adult-onset Still's disease' SubClassOf 'arthritis' http://www.orpha.net/ORDO/Orphanet_209038 Qualitative or quantitative defects of myofibrillar proteins 'Qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of myofibrillar proteins' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007140 allergic bronchopulmonary aspergillosis 'allergic bronchopulmonary aspergillosis' SubClassOf 'aspergillosis' 'allergic bronchopulmonary aspergillosis' SubClassOf 'aspergillosis' http://www.orpha.net/ORDO/Orphanet_209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007164 Balkan nephropathy 'Balkan nephropathy' SubClassOf 'interstitial nephritis' 'Balkan nephropathy' SubClassOf 'interstitial nephritis' http://www.orpha.net/ORDO/Orphanet_3166 Sialuria 'Sialuria' SubClassOf 'Disorder of sialic acid metabolism' 'Sialuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3164 Omphalocele syndrome, Shprintzen-Goldberg type 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007169 biliary dyskinesia 'biliary dyskinesia' SubClassOf 'gallbladder disease' 'biliary dyskinesia' SubClassOf 'gallbladder disease' http://www.ebi.ac.uk/efo/EFO_0007167 Bell's palsy 'Bell's palsy' SubClassOf 'facial paralysis' 'Bell's palsy' SubClassOf 'facial nerve disease' 'Bell's palsy' SubClassOf 'facial paralysis' 'Bell's palsy' SubClassOf 'facial nerve disease' http://www.orpha.net/ORDO/Orphanet_99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3169 Sirenomelia 'Sirenomelia' SubClassOf 'Syndromic anorectal malformation' 'Sirenomelia' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Sirenomelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007172 blackwater fever 'blackwater fever' SubClassOf 'malaria' 'blackwater fever' SubClassOf 'malaria' http://www.orpha.net/ORDO/Orphanet_3177 Corneal-cerebellar syndrome 'Corneal-cerebellar syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Corneal-cerebellar syndrome' SubClassOf 'Rare hereditary ataxia' 'Corneal-cerebellar syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3176 Spina bifida - hypospadias 'Spina bifida - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Spina bifida - hypospadias' SubClassOf 'Genetic urogenital tract malformation' http://www.ebi.ac.uk/efo/EFO_0007159 atrophic rhinitis 'atrophic rhinitis' SubClassOf 'rhinitis' 'atrophic rhinitis' SubClassOf 'rhinitis' http://www.orpha.net/ORDO/Orphanet_3173 Infantile spasms - broad thumbs 'Infantile spasms - broad thumbs' SubClassOf 'Epilepsy syndrome' 'Infantile spasms - broad thumbs' SubClassOf 'Rare genetic epilepsy' http://www.orpha.net/ORDO/Orphanet_36367 Distal monosomy 1q 'Distal monosomy 1q' SubClassOf 'Partial deletion of the long arm of chromosome 1' 'Distal monosomy 1q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99961 Benign recurrent intrahepatic cholestasis type 2 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf 'Benign recurrent intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99960 Benign recurrent intrahepatic cholestasis type 1 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'Benign recurrent intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007187 bullous pemphigoid 'bullous pemphigoid' SubClassOf 'autoimmune bullous skin disease' 'bullous pemphigoid' SubClassOf 'autoimmune bullous skin disease' http://www.orpha.net/ORDO/Orphanet_3186 Holoprosencephaly - radial heart renal anomalies 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_3184 Steatocystoma multiplex - natal teeth 'Steatocystoma multiplex - natal teeth' SubClassOf 'Genetic sebaceous gland anomaly' 'Steatocystoma multiplex - natal teeth' SubClassOf 'Rare genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0007191 cannabis dependence 'cannabis dependence' SubClassOf 'drug dependence' 'cannabis dependence' SubClassOf 'drug dependence' http://www.orpha.net/ORDO/Orphanet_3180 Spondylocamptodactyly syndrome 'Spondylocamptodactyly syndrome' SubClassOf 'Spondylodysplastic dysplasia' 'Spondylocamptodactyly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007195 cat-scratch disease 'cat-scratch disease' SubClassOf 'bartonellosis' 'cat-scratch disease' SubClassOf 'bartonellosis' http://www.ebi.ac.uk/efo/EFO_0007193 carbamoyl phosphate synthetase I deficiency disease 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf 'urea cycle disorder' 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf 'urea cycle disorder' http://www.ebi.ac.uk/efo/EFO_0007192 Caplan's syndrome 'Caplan's syndrome' SubClassOf 'pneumoconiosis' 'Caplan's syndrome' SubClassOf 'pneumoconiosis' http://www.orpha.net/ORDO/Orphanet_36382 Familial cervical artery dissections 'Familial cervical artery dissections' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial cervical artery dissections' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_3197 Hereditary hyperekplexia 'Hereditary hyperekplexia' SubClassOf 'Neurometabolic disease' 'Hereditary hyperekplexia' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Hereditary hyperekplexia' SubClassOf 'Rare genetic movement disorder' 'Hereditary hyperekplexia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'Infantile epilepsy syndrome' 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'Familial partial epilepsy' 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'Channelopathy with epilepsy' http://www.orpha.net/ORDO/Orphanet_36386 Hereditary sensory and autonomic neuropathy type 1 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_165707 Syndromic urogenital tract malformation 'Syndromic urogenital tract malformation' SubClassOf 'Genetic urogenital tract malformation' 'Syndromic urogenital tract malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3193 Supravalvular aortic stenosis 'Supravalvular aortic stenosis' SubClassOf 'Genetic cardiac anomaly' 'Supravalvular aortic stenosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3191 Subaortic stenosis - short stature 'Subaortic stenosis - short stature' SubClassOf 'Syndromic corneal dystrophy' 'Subaortic stenosis - short stature' SubClassOf 'corneal disease' 'Subaortic stenosis - short stature' SubClassOf 'Rare genetic eye disease' http://www.ebi.ac.uk/efo/EFO_0007184 bronchopneumonia 'bronchopneumonia' SubClassOf 'pneumonia' 'bronchopneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007183 bronchiolitis obliterans 'bronchiolitis obliterans' SubClassOf 'pneumonia' 'bronchiolitis obliterans' SubClassOf 'bronchiolitis' 'bronchiolitis obliterans' SubClassOf 'pneumonia' 'bronchiolitis obliterans' SubClassOf 'bronchiolitis' http://www.orpha.net/ORDO/Orphanet_3124 Saccharopinuria 'Saccharopinuria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' 'Saccharopinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99901 Acyl-CoA dehydrogenase 9 deficiency 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Exercise intolerance with lactic acidosis' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99900 Long chain acyl-CoA dehydrogenase deficiency 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Metabolic disease due to other fatty acid oxidation disorder' 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3129 Sarcosinemia 'Sarcosinemia' SubClassOf 'Disorder of serine or glycine metabolism' 'Sarcosinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007199 central nervous system tuberculosis 'central nervous system tuberculosis' SubClassOf 'Tuberculosis' http://www.orpha.net/ORDO/Orphanet_3135 Familial Scheuermann disease 'Familial Scheuermann disease' SubClassOf 'Osteochondrosis of genetic origin' 'Familial Scheuermann disease' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_3133 Say-Field-Coldwell syndrome 'Say-Field-Coldwell syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Say-Field-Coldwell syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007196 Cauda equina syndrome 'Cauda equina syndrome' SubClassOf 'peripheral nervous system disease' 'Cauda equina syndrome' SubClassOf 'peripheral nervous system disease' http://www.orpha.net/ORDO/Orphanet_85335 Fried syndrome 'Fried syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fried syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Fried syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3138 Ulnar-mammary syndrome 'Ulnar-mammary syndrome' SubClassOf 'Syndromic anorectal malformation' 'Ulnar-mammary syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Ulnar-mammary syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Ulnar-mammary syndrome' SubClassOf 'Syndromic obesity' 'Ulnar-mammary syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3137 Alpha-N-acetylgalactosaminidase deficiency 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'Neurometabolic disease' 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'Oligosaccharidosis' 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3144 Schneckenbecken dysplasia 'Schneckenbecken dysplasia' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Schneckenbecken dysplasia' SubClassOf 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' 'Schneckenbecken dysplasia' SubClassOf 'Spondylodysplastic dysplasia' 'Schneckenbecken dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85321 Deafness - intellectual disability, Martin-Probst type 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_85317 X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_85319 X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia 'Septo-optic dysplasia' SubClassOf 'Syndromic optic nerve hypoplasia' 'Septo-optic dysplasia' SubClassOf 'Optic neuropathy' http://www.orpha.net/ORDO/Orphanet_3152 Sclerosteosis 'Sclerosteosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Sclerosteosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3201 Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'Orofacial clefting syndrome' 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_3203 Overhydrated hereditary stomatocytosis 'Overhydrated hereditary stomatocytosis' SubClassOf 'Hereditary stomatocytosis' 'Overhydrated hereditary stomatocytosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3202 Dehydrated hereditary stomatocytosis 'Dehydrated hereditary stomatocytosis' SubClassOf 'Hereditary stomatocytosis' 'Dehydrated hereditary stomatocytosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002907 intracranial thrombosis 'intracranial thrombosis' SubClassOf 'thrombotic disease' 'intracranial thrombosis' SubClassOf 'cerebrovascular disorder' 'intracranial thrombosis' SubClassOf 'thrombotic disease' 'intracranial thrombosis' SubClassOf 'cerebrovascular disorder' http://www.orpha.net/ORDO/Orphanet_3219 Fountain syndrome 'Fountain syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Fountain syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fountain syndrome' SubClassOf 'Syndromic genetic deafness' 'Fountain syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3214 Deaf blind hypopigmentation syndrome, Yemenite type 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'Genetic hypopigmentation of the skin' 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'Syndromic genetic deafness' 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002917 disorder of pilosebaceous unit 'disorder of pilosebaceous unit' SubClassOf 'integumentary system disease' 'disorder of pilosebaceous unit' SubClassOf 'integumentary system disease' http://www.orpha.net/ORDO/Orphanet_261584 Familial adenomatous polyposis due to 5q22.2 microdeletion 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'Familial adenomatous polyposis' 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002913 cerebellar neoplasm 'cerebellar neoplasm' SubClassOf 'cerebellar disorder' 'cerebellar neoplasm' SubClassOf 'cerebellar disorder' http://www.orpha.net/ORDO/Orphanet_3222 Phosphoribosylpyrophosphate synthetase superactivity 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Disorder of purine metabolism' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3221 Generalized resistance to thyroid hormone 'Generalized resistance to thyroid hormone' SubClassOf 'Syndromic genetic deafness' 'Generalized resistance to thyroid hormone' SubClassOf 'Rare hyperthyroidism' 'Generalized resistance to thyroid hormone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'Syndromic lymphedema' http://www.orpha.net/ORDO/Orphanet_3224 Deafness - genital anomalies - metacarpal and metatarsal synostosis 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Syndromic urogenital tract malformation' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_3233 Cochleosaccular degeneration - cataract 'Cochleosaccular degeneration - cataract' SubClassOf 'Syndromic cataract' 'Cochleosaccular degeneration - cataract' SubClassOf 'Rare cataract' http://www.orpha.net/ORDO/Orphanet_3231 Deafness-onychodystrophy syndrome 'Deafness-onychodystrophy syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Deafness-onychodystrophy syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-onychodystrophy syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Deafness-onychodystrophy syndrome' SubClassOf 'Syndromic nail anomaly' 'Deafness-onychodystrophy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3238 Cardiospondylocarpofacial syndrome 'Cardiospondylocarpofacial syndrome' SubClassOf 'Syndromic genetic deafness' 'Cardiospondylocarpofacial syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3237 Multiple synostoses syndrome 'Multiple synostoses syndrome' SubClassOf 'Syndromic genetic deafness' 'Multiple synostoses syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Multiple synostoses syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3236 Conductive deafness - ptosis - skeletal anomalies 'Conductive deafness - ptosis - skeletal anomalies' SubClassOf 'Ectodermal dysplasia syndrome' 'Conductive deafness - ptosis - skeletal anomalies' SubClassOf 'Rare genetic skin disease' 'Conductive deafness - ptosis - skeletal anomalies' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_3235 Progressive deafness with stapes fixation 'Progressive deafness with stapes fixation' SubClassOf 'Syndromic genetic deafness' 'Progressive deafness with stapes fixation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99989 Intermediate DEND syndrome 'Intermediate DEND syndrome' SubClassOf 'DEND syndrome' 'Intermediate DEND syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002959 radiculopathy 'radiculopathy' SubClassOf 'peripheral nervous system disease' 'radiculopathy' SubClassOf 'peripheral nervous system disease' http://purl.obolibrary.org/obo/MONDO_0014944 short stature-brachydactyly-obesity-global developmental delay syndrome 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'syndromic intellectual disability' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0002974 cervical cancer 'cervical cancer' SubClassOf 'uterine cancer' 'cervical cancer' SubClassOf 'uterine cancer' http://www.orpha.net/ORDO/Orphanet_97362 Bilateral renal hypoplasia 'Bilateral renal hypoplasia' SubClassOf 'Renal hypoplasia' 'Bilateral renal hypoplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_97363 Unilateral multicystic dysplastic kidney 'Unilateral multicystic dysplastic kidney' SubClassOf 'Multicystic dysplastic kidney' 'Unilateral multicystic dysplastic kidney' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97364 Bilateral multicystic dysplastic kidney 'Bilateral multicystic dysplastic kidney' SubClassOf 'Multicystic dysplastic kidney' 'Bilateral multicystic dysplastic kidney' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97369 Renal tubular dysgenesis of genetic origin 'Renal tubular dysgenesis of genetic origin' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Renal tubular dysgenesis of genetic origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97361 Unilateral renal hypoplasia 'Unilateral renal hypoplasia' SubClassOf 'Renal hypoplasia' 'Unilateral renal hypoplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_261501 Atypical Norrie disease due to monosomy Xp11.3 'Atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'Atypical Norrie disease due to monosomy Xp11.3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012308 Joubert syndrome with renal defect 'Joubert syndrome with renal defect' SubClassOf 'Joubert syndrome' 'Joubert syndrome with renal defect' SubClassOf 'nephropathy-associated ciliopathy' 'Joubert syndrome with renal defect' SubClassOf 'familial cystic renal disease' 'Joubert syndrome with renal defect' SubClassOf 'Joubert syndrome' http://www.orpha.net/ORDO/Orphanet_320370 Autosomal recessive spastic paraplegia type 43 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_320375 Autosomal recessive spastic paraplegia type 55 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0000334 multinodular goiter 'multinodular goiter' SubClassOf 'nodular goiter' 'multinodular goiter' SubClassOf 'nodular goiter' http://purl.obolibrary.org/obo/MONDO_0012316 Majeed syndrome 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800092 http://www.orpha.net/ORDO/Orphanet_320360 Maternally-inherited spastic paraplegia 'Maternally-inherited spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'Maternally-inherited spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_320365 Autosomal dominant spastic paraplegia type 36 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_320350 Pure or complex X-linked spastic paraplegia 'Pure or complex X-linked spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' 'Pure or complex X-linked spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_320355 Autosomal dominant spastic paraplegia type 41 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0000351 disorder of methionine catabolism 'disorder of methionine catabolism' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'disorder of methionine catabolism' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0000355 Ullrich congenital muscular dystrophy 'Ullrich congenital muscular dystrophy' SubClassOf 'congenital muscular dystrophy' 'Ullrich congenital muscular dystrophy' SubClassOf 'congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_320342 Pure or complex autosomal dominant spastic paraplegia 'Pure or complex autosomal dominant spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' 'Pure or complex autosomal dominant spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_320346 Pure or complex autosomal recessive spastic paraplegia 'Pure or complex autosomal recessive spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' 'Pure or complex autosomal recessive spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000365 primary congenital glaucoma 'primary congenital glaucoma' SubClassOf 'congenital glaucoma' 'primary congenital glaucoma' SubClassOf 'congenital glaucoma' http://purl.obolibrary.org/obo/MONDO_0000368 extrapulmonary tuberculosis 'extrapulmonary tuberculosis' SubClassOf 'tuberculosis' 'extrapulmonary tuberculosis' SubClassOf 'tuberculosis' http://www.orpha.net/ORDO/Orphanet_319332 Autosomal recessive myogenic arthrogryposis multiplex congenita 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'Congenital muscular dystrophy' 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_320335 Pure or complex hereditary spastic paraplegia 'Pure or complex hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' 'Pure or complex hereditary spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000376 respiratory system cancer 'respiratory system cancer' SubClassOf 'respiratory system disease' 'respiratory system cancer' SubClassOf 'cancer' 'respiratory system cancer' SubClassOf 'respiratory system disease' 'respiratory system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0012354 platelet-type bleeding disorder 8 'platelet-type bleeding disorder 8' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 8' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0000387 hypochromic microcytic anemia 'hypochromic microcytic anemia' SubClassOf 'microcytic anemia' 'hypochromic microcytic anemia' SubClassOf 'microcytic anemia' http://www.orpha.net/ORDO/Orphanet_261529 Ring chromosome Y 'Ring chromosome Y' SubClassOf 'Chromosome Y structural anomaly' 'Ring chromosome Y' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024358 complex sleep apnea 'complex sleep apnea' EquivalentTo 'central sleep apnea syndrome' and 'obstructive sleep apnea' 'complex sleep apnea' SubClassOf 'obstructive sleep apnea' 'complex sleep apnea' SubClassOf 'central sleep apnea syndrome' 'complex sleep apnea' EquivalentTo 'central sleep apnea syndrome' and 'obstructive sleep apnea' 'complex sleep apnea' SubClassOf 'obstructive sleep apnea' 'complex sleep apnea' SubClassOf 'central sleep apnea syndrome' http://purl.obolibrary.org/obo/MONDO_0000389 atelosteogenesis 'atelosteogenesis' SubClassOf 'osteochondrodysplasia' 'atelosteogenesis' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_261524 Paternal uniparental disomy of chromosome X 'Paternal uniparental disomy of chromosome X' SubClassOf 'Uniparental disomy of chromosome X' 'Paternal uniparental disomy of chromosome X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000382 respiratory system benign neoplasm 'respiratory system benign neoplasm' SubClassOf 'benign neoplasm' 'respiratory system benign neoplasm' SubClassOf 'respiratory system disease' 'respiratory system benign neoplasm' SubClassOf 'benign neoplasm' 'respiratory system benign neoplasm' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0024352 viral respiratory tract infection 'viral respiratory tract infection' SubClassOf 'viral disease' 'viral respiratory tract infection' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_261519 Maternal uniparental disomy of chromosome X 'Maternal uniparental disomy of chromosome X' SubClassOf 'Uniparental disomy of chromosome X' 'Maternal uniparental disomy of chromosome X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000396 spastic cerebral palsy 'spastic cerebral palsy' SubClassOf 'cerebral palsy' 'spastic cerebral palsy' SubClassOf 'cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0000390 vitelliform macular dystrophy 'vitelliform macular dystrophy' SubClassOf 'genetic macular dystrophy' 'vitelliform macular dystrophy' SubClassOf 'genetic macular dystrophy' http://www.orpha.net/ORDO/Orphanet_319328 Inherited renal cancer-predisposing syndrome 'Inherited renal cancer-predisposing syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Inherited renal cancer-predisposing syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007441 placenta disease 'placenta disease' SubClassOf 'pregnancy disorder' 'placenta disease' SubClassOf 'pregnancy disorder' http://www.ebi.ac.uk/efo/EFO_0007440 placenta accreta 'placenta accreta' SubClassOf 'placenta disease' 'placenta accreta' SubClassOf 'placenta disease' http://www.orpha.net/ORDO/Orphanet_261902 Partial deletion of the short arm of chromosome 6 'Partial deletion of the short arm of chromosome 6' SubClassOf 'Partial deletion of chromosome 6' 'Partial deletion of the short arm of chromosome 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007445 Plasmodium vivax malaria 'Plasmodium vivax malaria' SubClassOf 'malaria' 'Plasmodium vivax malaria' SubClassOf 'malaria' http://www.ebi.ac.uk/efo/EFO_0007444 Plasmodium falciparum malaria 'Plasmodium falciparum malaria' SubClassOf 'malaria' 'Plasmodium falciparum malaria' SubClassOf 'malaria' http://www.ebi.ac.uk/efo/EFO_0007443 placental insufficiency 'placental insufficiency' SubClassOf 'placenta disease' 'placental insufficiency' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_0007442 placenta praevia 'placenta praevia' SubClassOf 'placenta disease' 'placenta praevia' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_0007448 pneumocystosis 'pneumocystosis' SubClassOf 'pneumonia' 'pneumocystosis' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007446 pleural tuberculosis 'pleural tuberculosis' SubClassOf 'pleurisy' 'pleural tuberculosis' SubClassOf 'Tuberculosis' 'pleural tuberculosis' SubClassOf 'pleurisy' http://www.ebi.ac.uk/efo/EFO_0007434 pharyngoconjunctival fever 'pharyngoconjunctival fever' SubClassOf 'viral disease' 'pharyngoconjunctival fever' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_209335 Adult-onset proximal spinal muscular atrophy, autosomal dominant 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007436 phencyclidine abuse 'phencyclidine abuse' SubClassOf 'substance abuse' 'phencyclidine abuse' SubClassOf 'substance abuse' http://www.ebi.ac.uk/efo/EFO_0007439 pityriasis versicolor 'pityriasis versicolor' SubClassOf 'exanthem' 'pityriasis versicolor' SubClassOf 'exanthem' http://purl.obolibrary.org/obo/MONDO_0012155 choanal atresia 'choanal atresia' SubClassOf 'nasal cavity disorder' 'choanal atresia' SubClassOf 'nasal cavity disorder' http://www.ebi.ac.uk/efo/EFO_0007463 renal tuberculosis 'renal tuberculosis' SubClassOf 'kidney disease' 'renal tuberculosis' SubClassOf 'urogenital tuberculosis' 'renal tuberculosis' SubClassOf 'kidney disease' 'renal tuberculosis' SubClassOf 'urogenital tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007462 REM sleep behavior disorder 'REM sleep behavior disorder' SubClassOf 'sleep-wake disorder' 'REM sleep behavior disorder' SubClassOf 'sleep-wake disorder' http://www.ebi.ac.uk/efo/EFO_0007461 recurrent pneumonia 'recurrent pneumonia' SubClassOf 'pneumonia' 'recurrent pneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007467 Reye syndrome 'Reye syndrome' SubClassOf 'brain disease' 'Reye syndrome' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf 'spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_209341 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007452 post-thrombotic syndrome 'post-thrombotic syndrome' SubClassOf 'venous insufficiency' 'post-thrombotic syndrome' SubClassOf 'venous insufficiency' http://www.ebi.ac.uk/efo/EFO_0007450 poliomyelitis 'poliomyelitis' SubClassOf 'poliovirus infection' 'poliomyelitis' SubClassOf 'viral infection of central nervous system' 'poliomyelitis' SubClassOf 'poliovirus infection' 'poliomyelitis' SubClassOf 'viral infection of central nervous system' http://www.ebi.ac.uk/efo/EFO_0007455 progressive multifocal leukoencephalopathy 'progressive multifocal leukoencephalopathy' SubClassOf 'encephalitis' http://www.ebi.ac.uk/efo/EFO_0007453 postpartum depression 'postpartum depression' SubClassOf 'depressive disorder' 'postpartum depression' SubClassOf 'depressive disorder' http://purl.obolibrary.org/obo/MONDO_0012176 Emanuel syndrome 'Emanuel syndrome' SubClassOf 'genetic disorder' 'Emanuel syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012172 mitochondrial trifunctional protein deficiency 'mitochondrial trifunctional protein deficiency' SubClassOf 'inherited lipid metabolism disorder' 'mitochondrial trifunctional protein deficiency' SubClassOf 'inherited lipid metabolism disorder' http://www.ebi.ac.uk/efo/EFO_0007485 silicosis 'silicosis' SubClassOf 'pneumoconiosis' 'silicosis' SubClassOf 'pneumoconiosis' http://www.orpha.net/ORDO/Orphanet_261947 Partial deletion of the short arm of chromosome 11 'Partial deletion of the short arm of chromosome 11' SubClassOf 'Partial deletion of chromosome 11' 'Partial deletion of the short arm of chromosome 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007482 setariasis 'setariasis' SubClassOf 'filariasis' 'setariasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007489 sphenoid sinusitis 'sphenoid sinusitis' SubClassOf 'sinusitis' 'sphenoid sinusitis' SubClassOf 'sinusitis' http://www.ebi.ac.uk/efo/EFO_0007487 skeletal tuberculosis 'skeletal tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007486 sinusitis 'sinusitis' SubClassOf 'paranasal sinus disease' 'sinusitis' SubClassOf 'paranasal sinus disease' http://www.ebi.ac.uk/efo/EFO_0007492 splenic tuberculosis 'splenic tuberculosis' SubClassOf 'Tuberculosis' http://purl.obolibrary.org/obo/MONDO_0012183 melanoma, cutaneous malignant, susceptibility to, 3 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'familial melanoma' 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'familial melanoma' http://www.ebi.ac.uk/efo/EFO_0007472 rickettsial pneumonia 'rickettsial pneumonia' SubClassOf 'rickettsiosis' http://www.ebi.ac.uk/efo/EFO_0007476 sarcocystosis 'sarcocystosis' SubClassOf 'coccidiosis' 'sarcocystosis' SubClassOf 'coccidiosis' http://www.orpha.net/ORDO/Orphanet_261938 Partial deletion of the short arm of chromosome 10 'Partial deletion of the short arm of chromosome 10' SubClassOf 'Partial deletion of chromosome 10' 'Partial deletion of the short arm of chromosome 10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007481 septicemic plague 'septicemic plague' SubClassOf 'Yersinia pestis infectious disease' 'septicemic plague' SubClassOf 'Yersinia pestis infectious disease' http://www.orpha.net/ORDO/Orphanet_209370 Severe neonatal-onset encephalopathy with microcephaly 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Monogenic disease with epilepsy' 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Neonatal epilepsy syndrome' 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261920 Partial deletion of the short arm of chromosome 8 'Partial deletion of the short arm of chromosome 8' SubClassOf 'Partial deletion of chromosome 8' 'Partial deletion of the short arm of chromosome 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_330197 Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_261929 Partial deletion of the short arm of chromosome 9 'Partial deletion of the short arm of chromosome 9' SubClassOf 'Partial deletion of chromosome 9' 'Partial deletion of the short arm of chromosome 9' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007495 St. Louis encephalitis 'St. Louis encephalitis' SubClassOf 'Flaviviridae infectious disease' 'St. Louis encephalitis' SubClassOf 'Flaviviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007494 sporotrichosis 'sporotrichosis' SubClassOf 'fungal infectious disease' 'sporotrichosis' SubClassOf 'fungal infectious disease' http://www.orpha.net/ORDO/Orphanet_261911 Partial deletion of the short arm of chromosome 7 'Partial deletion of the short arm of chromosome 7' SubClassOf 'Partial deletion of chromosome 7' 'Partial deletion of the short arm of chromosome 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007499 streptococcal pneumonia 'streptococcal pneumonia' SubClassOf 'bacterial pneumonia' 'streptococcal pneumonia' SubClassOf 'pneumococcal infection' 'streptococcal pneumonia' SubClassOf 'bacterial pneumonia' 'streptococcal pneumonia' SubClassOf 'pneumococcal infection' http://www.orpha.net/ORDO/Orphanet_329195 Developmental delay with autism spectrum disorder and gait instability 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'Rare disease with autism' 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_307837 Focal palmoplantar keratoderma 'Focal palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' 'Focal palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_307846 Isolated focal palmoplantar keratoderma 'Isolated focal palmoplantar keratoderma' SubClassOf 'Focal palmoplantar keratoderma' 'Isolated focal palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_63442 Angel-shaped phalango-epiphyseal dysplasia 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'Acromelic dysplasia' 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_63440 Isolated oxycephaly 'Isolated oxycephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated oxycephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated oxycephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0002021 occipital lobe 'occipital lobe' SubClassOf 'part_of' some 'cerebral cortex' http://www.orpha.net/ORDO/Orphanet_295243 Macrodactyly of toes, unilateral 'Macrodactyly of toes, unilateral' SubClassOf 'Macrodactyly of toes' 'Macrodactyly of toes, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295241 Macrodactyly of fingers, bilateral 'Macrodactyly of fingers, bilateral' SubClassOf 'Macrodactyly of fingers' 'Macrodactyly of fingers, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99429 Complete androgen insensitivity syndrome 'Complete androgen insensitivity syndrome' SubClassOf 'Androgen insensitivity syndrome' 'Complete androgen insensitivity syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295245 Macrodactyly of toes, bilateral 'Macrodactyly of toes, bilateral' SubClassOf 'Macrodactyly of toes' 'Macrodactyly of toes, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295239 Macrodactyly of fingers, unilateral 'Macrodactyly of fingers, unilateral' SubClassOf 'Macrodactyly of fingers' 'Macrodactyly of fingers, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329228 Microcephalic primordial dwarfism due to ZNF335 deficiency 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329224 Intellectual disability - craniofacial dysmorphism - cryptorchidism 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_63454 Patterned dystrophy of the retinal pigment epithelium 'Patterned dystrophy of the retinal pigment epithelium' SubClassOf 'Genetic macular dystrophy' 'Patterned dystrophy of the retinal pigment epithelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_63446 Acrocapitofemoral dysplasia 'Acrocapitofemoral dysplasia' SubClassOf 'Acromelic dysplasia' 'Acrocapitofemoral dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002816 adrenal cortex disorder 'adrenal cortex disorder' SubClassOf 'adrenal gland disease' 'adrenal cortex disorder' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0002817 adrenal gland cancer 'adrenal gland cancer' SubClassOf 'retroperitoneal cancer' 'adrenal gland cancer' SubClassOf 'retroperitoneal cancer' http://www.orpha.net/ORDO/Orphanet_307871 Disease with focal palmoplantar keratoderma as a major feature 'Disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'Focal palmoplantar keratoderma' 'Disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'Genetic epidermal disorder' http://purl.obolibrary.org/obo/MONDO_0014805 Hao-Fountain syndrome 'Hao-Fountain syndrome' SubClassOf 'syndromic intellectual disability' 'Hao-Fountain syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_295203 Congenital vertical talus, bilateral 'Congenital vertical talus, bilateral' SubClassOf 'Congenital vertical talus' 'Congenital vertical talus, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295201 Congenital vertical talus, unilateral 'Congenital vertical talus, unilateral' SubClassOf 'Congenital vertical talus' 'Congenital vertical talus, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014801 even-plus syndrome 'even-plus syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'even-plus syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0002824 extrinsic cardiomyopathy 'extrinsic cardiomyopathy' SubClassOf 'cardiomyopathy' 'extrinsic cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_295211 Humero-radial synostosis, bilateral 'Humero-radial synostosis, bilateral' SubClassOf 'Humero-radial synostosis' 'Humero-radial synostosis, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295215 Humero-ulnar synostosis, bilateral 'Humero-ulnar synostosis, bilateral' SubClassOf 'Humero-ulnar synostosis' 'Humero-ulnar synostosis, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295213 Humero-ulnar synostosis, unilateral 'Humero-ulnar synostosis, unilateral' SubClassOf 'Humero-ulnar synostosis' 'Humero-ulnar synostosis, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295207 Humero-radio-ulnar synostosis, bilateral 'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'Humero-radio-ulnar synostosis' 'Humero-radio-ulnar synostosis, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75496 Ehlers-Danlos syndrome, progeroid type 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'inborn errors of metabolism' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_295205 Humero-radio-ulnar synostosis, unilateral 'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'Humero-radio-ulnar synostosis' 'Humero-radio-ulnar synostosis, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295209 Humero-radial synostosis, unilateral 'Humero-radial synostosis, unilateral' SubClassOf 'Humero-radial synostosis' 'Humero-radial synostosis, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295225 Congenital elbow dislocation, unilateral 'Congenital elbow dislocation, unilateral' SubClassOf 'Congenital elbow dislocation' 'Congenital elbow dislocation, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295219 Radio-ulnar synostosis, bilateral 'Radio-ulnar synostosis, bilateral' SubClassOf 'congenital radioulnar synostosis' 'Radio-ulnar synostosis, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295217 Radio-ulnar synostosis, unilateral 'Radio-ulnar synostosis, unilateral' SubClassOf 'congenital radioulnar synostosis' 'Radio-ulnar synostosis, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014821 complex lethal osteochondrodysplasia 'complex lethal osteochondrodysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002848 skeletal muscle neoplasm 'skeletal muscle neoplasm' SubClassOf 'skeletal muscle disorder' 'skeletal muscle neoplasm' SubClassOf 'skeletal muscle disorder' http://www.orpha.net/ORDO/Orphanet_295232 Congenital genu flexum 'Congenital genu flexum' SubClassOf 'Congenital knee dislocation' 'Congenital genu flexum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295237 Congenital patella dislocation, bilateral 'Congenital patella dislocation, bilateral' SubClassOf 'Congenital patella dislocation' 'Congenital patella dislocation, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295234 Congenital patella dislocation, unilateral 'Congenital patella dislocation, unilateral' SubClassOf 'Congenital patella dislocation' 'Congenital patella dislocation, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295229 Congenital genu recurvatum 'Congenital genu recurvatum' SubClassOf 'Congenital knee dislocation' 'Congenital genu recurvatum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295227 Congenital elbow dislocation, bilateral 'Congenital elbow dislocation, bilateral' SubClassOf 'Congenital elbow dislocation' 'Congenital elbow dislocation, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014832 intellectual disability, autosomal recessive 53 'intellectual disability, autosomal recessive 53' SubClassOf 'syndromic intellectual disability' 'intellectual disability, autosomal recessive 53' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_261866 Partial deletion of the short arm of chromosome 2 'Partial deletion of the short arm of chromosome 2' SubClassOf 'Partial deletion of chromosome 2' 'Partial deletion of the short arm of chromosome 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261857 Partial deletion of the short arm of chromosome 1 'Partial deletion of the short arm of chromosome 1' SubClassOf 'Partial deletion of chromosome 1' 'Partial deletion of the short arm of chromosome 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002887 bile duct disorder 'bile duct disorder' SubClassOf 'biliary tract disease' 'bile duct disorder' SubClassOf 'biliary tract disease' http://www.orpha.net/ORDO/Orphanet_261846 Partial deletion of chromosome 20 'Partial deletion of chromosome 20' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 20' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002883 intestinal neuroendocrine neoplasm 'intestinal neuroendocrine neoplasm' SubClassOf 'intestinal neoplasm' 'intestinal neuroendocrine neoplasm' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002884 nail disorder 'nail disorder' SubClassOf 'integumentary system disease' 'nail disorder' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0012206 Czech dysplasia, metatarsal type 'Czech dysplasia, metatarsal type' SubClassOf 'type 2 collagenopathy' 'Czech dysplasia, metatarsal type' SubClassOf 'hereditary disorder of connective tissue' 'Czech dysplasia, metatarsal type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0012204 familial pseudohyperkalemia 'familial pseudohyperkalemia' SubClassOf 'hereditary stomatocytosis' 'familial pseudohyperkalemia' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0002898 skin cancer 'skin cancer' SubClassOf 'skin neoplasm' 'skin cancer' SubClassOf 'skin neoplasm' http://www.orpha.net/ORDO/Orphanet_261836 Partial deletion of chromosome 18 'Partial deletion of chromosome 18' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 18' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261831 Partial deletion of chromosome 17 'Partial deletion of chromosome 17' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 17' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014873 nevus comedonicus syndrome 'nevus comedonicus syndrome' SubClassOf 'inherited skin tumor' 'nevus comedonicus syndrome' SubClassOf 'inherited skin tumor' http://www.orpha.net/ORDO/Orphanet_261841 Partial deletion of chromosome 19 'Partial deletion of chromosome 19' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 19' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007405 optic neuritis 'optic neuritis' SubClassOf 'optic nerve disorder' 'optic neuritis' SubClassOf 'optic nerve disorder' http://www.ebi.ac.uk/efo/EFO_0007404 opisthorchiasis 'opisthorchiasis' SubClassOf 'Helminthiasis' 'opisthorchiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007403 ophthalmic herpes zoster 'ophthalmic herpes zoster' SubClassOf 'Herpes Zoster' 'ophthalmic herpes zoster' SubClassOf 'infectious disorder of the nervous system' 'ophthalmic herpes zoster' SubClassOf 'Herpes Zoster' 'ophthalmic herpes zoster' SubClassOf 'infectious disorder of the nervous system' http://www.ebi.ac.uk/efo/EFO_0007402 onchocerciasis 'onchocerciasis' SubClassOf 'filariasis' 'onchocerciasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007409 Ornithine transcarbamylase deficiency ornithine carbamoyltransferase deficiency 'Ornithine transcarbamylase deficiency' SubClassOf 'urea cycle disorder' 'Ornithine transcarbamylase deficiency' SubClassOf 'urea cycle disorder' http://www.ebi.ac.uk/efo/EFO_0007406 oral candidiasis 'oral candidiasis' SubClassOf 'candidiasis' 'oral candidiasis' SubClassOf 'mouth disease' 'oral candidiasis' SubClassOf 'candidiasis' 'oral candidiasis' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0000253 piedra 'piedra' SubClassOf 'superficial mycosis' 'piedra' SubClassOf 'superficial mycosis' http://purl.obolibrary.org/obo/MONDO_0000257 acute diarrhea 'acute diarrhea' SubClassOf 'diarrheal disease' 'acute diarrhea' SubClassOf 'diarrheal disease' http://purl.obolibrary.org/obo/MONDO_0000256 systemic mycosis 'systemic mycosis' SubClassOf 'fungal infectious disease' 'systemic mycosis' SubClassOf 'fungal infectious disease' http://www.orpha.net/ORDO/Orphanet_329252 Spondylocostal dysostosis - hypospadias - intellectual disability 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder 'inherited neurodegenerative disorder' SubClassOf 'neurodegenerative disease' 'inherited neurodegenerative disorder' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0007423 parotitis 'parotitis' SubClassOf 'inflammatory disease' 'parotitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0024239 congenital anomaly of cardiovascular system 'congenital anomaly of cardiovascular system' SubClassOf 'cardiovascular disease' 'congenital anomaly of cardiovascular system' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0007421 paronychia 'paronychia' SubClassOf 'skin disease' 'paronychia' SubClassOf 'nail disorder' 'paronychia' SubClassOf 'skin disease' 'paronychia' SubClassOf 'nail disorder' http://www.ebi.ac.uk/efo/EFO_0007427 pericarditis 'pericarditis' SubClassOf 'pericardium disorder' 'pericarditis' SubClassOf 'pericardium disorder' http://www.ebi.ac.uk/efo/EFO_0007426 pericardial tuberculosis 'pericardial tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007424 pasteurellosis 'pasteurellosis' SubClassOf 'bacterial disease' 'pasteurellosis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0007429 peritonsillar abscess 'peritonsillar abscess' SubClassOf 'abscess' 'peritonsillar abscess' SubClassOf 'abscess' http://www.ebi.ac.uk/efo/EFO_0007428 periodic limb movement disorder 'periodic limb movement disorder' SubClassOf 'sleep-wake disorder' 'periodic limb movement disorder' SubClassOf 'sleep-wake disorder' http://www.orpha.net/ORDO/Orphanet_329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261893 Partial deletion of the short arm of chromosome 5 'Partial deletion of the short arm of chromosome 5' SubClassOf 'Partial deletion of chromosome 5' 'Partial deletion of the short arm of chromosome 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261875 Partial deletion of the short arm of chromosome 3 'Partial deletion of the short arm of chromosome 3' SubClassOf 'Partial deletion of chromosome 3' 'Partial deletion of the short arm of chromosome 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007416 pancreatic endocrine carcinoma 'pancreatic endocrine carcinoma' SubClassOf 'islet cell tumor' 'pancreatic endocrine carcinoma' SubClassOf 'islet cell tumor' http://www.ebi.ac.uk/efo/EFO_0007415 otitis media with effusion 'otitis media with effusion' SubClassOf 'chronic non-suppurative otitis media' 'otitis media with effusion' SubClassOf 'chronic non-suppurative otitis media' http://purl.obolibrary.org/obo/MONDO_0000271 tuberculous salpingitis 'tuberculous salpingitis' SubClassOf 'urogenital tuberculosis' 'tuberculous salpingitis' SubClassOf 'salpingitis' 'tuberculous salpingitis' SubClassOf 'urogenital tuberculosis' 'tuberculous salpingitis' SubClassOf 'salpingitis' http://www.ebi.ac.uk/efo/EFO_0007418 paragonimiasis 'paragonimiasis' SubClassOf 'Helminthiasis' 'paragonimiasis' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0012257 Cerebrorenodigital syndrome 'Cerebrorenodigital syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Cerebrorenodigital syndrome' SubClassOf 'familial cystic renal disease' 'Cerebrorenodigital syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_261884 Partial deletion of the short arm of chromosome 4 'Partial deletion of the short arm of chromosome 4' SubClassOf 'Partial deletion of chromosome 4' 'Partial deletion of the short arm of chromosome 4' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0012251 MEDNIK syndrome 'MEDNIK syndrome' SubClassOf 'erythrokeratoderma' 'MEDNIK syndrome' SubClassOf 'erythrokeratoderma' http://purl.obolibrary.org/obo/MONDO_0012250 Charcot-Marie-Tooth disease type 4H 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_199318 15q13.3 microdeletion syndrome '15q13.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q13.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q13.3 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' '15q13.3 microdeletion syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_0009984 SPRITE 'SPRITE' SubClassOf 'assay by sequencer' 'SPRITE' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0007323 inclusion body myositis 'inclusion body myositis' SubClassOf 'myositis' 'inclusion body myositis' SubClassOf 'myositis' http://www.ebi.ac.uk/efo/EFO_0009982 Trac-Loop 'Trac-Loop' SubClassOf 'assay by sequencer' 'Trac-Loop' SubClassOf 'assay by high throughput sequencer' http://www.orpha.net/ORDO/Orphanet_209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007326 infectious mononucleosis 'infectious mononucleosis' SubClassOf 'Epstein-Barr virus infection' 'infectious mononucleosis' SubClassOf 'Epstein-Barr virus infection' http://www.ebi.ac.uk/efo/EFO_0009987 GAM 'GAM' SubClassOf 'assay by sequencer' 'GAM' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0009988 MARGI 'MARGI' SubClassOf 'assay by sequencer' 'MARGI' SubClassOf 'assay by high throughput sequencer' http://purl.obolibrary.org/obo/MONDO_0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'dysostosis of genetic origin' 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800075 http://www.orpha.net/ORDO/Orphanet_199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009972 NAD-seq 'NAD-seq' SubClassOf 'assay by sequencer' 'NAD-seq' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0009973 CUT&RUN 'CUT&RUN' SubClassOf 'assay by sequencer' 'CUT&RUN' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0009974 in situ HiC 'in situ HiC' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0009975 dilution HiC 'dilution HiC' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0009971 TSA-seq 'TSA-seq' SubClassOf 'assay by sequencer' 'TSA-seq' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0007317 hymenolepiasis 'hymenolepiasis' SubClassOf 'Helminthiasis' 'hymenolepiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0009976 DNase Hi-C 'DNase Hi-C' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0009977 sci-Hi-C 'sci-Hi-C' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0007319 hyperprolactinemia 'hyperprolactinemia' SubClassOf 'hyperpituitarism' 'hyperprolactinemia' SubClassOf 'hyperpituitarism' http://www.ebi.ac.uk/efo/EFO_0009978 sn-Hi-C 'sn-Hi-C' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0009979 single cell Hi-C 'single cell Hi-C' SubClassOf 'assay by high throughput sequencer' http://www.orpha.net/ORDO/Orphanet_199310 Tetragametic chimerism 'Tetragametic chimerism' SubClassOf 'chromosomal disorder' 'Tetragametic chimerism' SubClassOf 'Sex chromosome disorder of sex development' 'Tetragametic chimerism' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Tetragametic chimerism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199315 Familial clubfoot with or without associated lower limb anomalies 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007340 latent syphilis 'latent syphilis' SubClassOf 'syphilis' 'latent syphilis' SubClassOf 'syphilis' http://www.orpha.net/ORDO/Orphanet_209224 Qualitative or quantitative defects of myotilin 'Qualitative or quantitative defects of myotilin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of myotilin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007343 Legionnaires' disease 'Legionnaires' disease' SubClassOf 'legionellosis' 'Legionnaires' disease' SubClassOf 'bacterial pneumonia' 'Legionnaires' disease' SubClassOf 'legionellosis' 'Legionnaires' disease' SubClassOf 'bacterial pneumonia' http://www.ebi.ac.uk/efo/EFO_0007331 islet cell tumor 'islet cell tumor' SubClassOf 'pancreatic neoplasm' 'islet cell tumor' SubClassOf 'endocrine pancreas disorder' 'islet cell tumor' SubClassOf 'pancreatic neoplasm' 'islet cell tumor' SubClassOf 'endocrine pancreas disorder' http://purl.obolibrary.org/obo/MONDO_0000078 acrocephalopolysyndactyly 'acrocephalopolysyndactyly' SubClassOf 'acrocephalosyndactyly' 'acrocephalopolysyndactyly' SubClassOf 'acrocephalosyndactyly' http://www.ebi.ac.uk/efo/EFO_0007330 intestinal cancer 'intestinal cancer' SubClassOf 'intestinal neoplasm' 'intestinal cancer' SubClassOf 'intestinal neoplasm' http://www.ebi.ac.uk/efo/EFO_0007335 Kluver-Bucy syndrome 'Kluver-Bucy syndrome' SubClassOf 'encephalitis' http://www.ebi.ac.uk/efo/EFO_0007339 late congenital syphilis 'late congenital syphilis' SubClassOf 'congenital syphilis' 'late congenital syphilis' SubClassOf 'congenital syphilis' http://www.ebi.ac.uk/efo/EFO_0007337 laryngeal tuberculosis 'laryngeal tuberculosis' SubClassOf 'Tuberculosis' 'laryngeal tuberculosis' SubClassOf 'laryngitis' 'laryngeal tuberculosis' SubClassOf 'laryngitis' http://www.ebi.ac.uk/efo/EFO_0007364 meningoencephalitis 'meningoencephalitis' SubClassOf 'encephalitis' 'meningoencephalitis' SubClassOf 'infectious encephalitis' 'meningoencephalitis' SubClassOf 'encephalitis' http://www.orpha.net/ORDO/Orphanet_261826 Partial deletion of chromosome 16 'Partial deletion of chromosome 16' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 16' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007362 mediastinal cancer 'mediastinal cancer' SubClassOf 'thoracic cancer' 'mediastinal cancer' SubClassOf 'neoplasm of mediastinum' 'mediastinal cancer' SubClassOf 'thoracic cancer' 'mediastinal cancer' SubClassOf 'neoplasm of mediastinum' http://www.ebi.ac.uk/efo/EFO_0007361 maxillary sinusitis 'maxillary sinusitis' SubClassOf 'sinusitis' 'maxillary sinusitis' SubClassOf 'sinusitis' http://www.ebi.ac.uk/efo/EFO_0007368 miliary tuberculosis 'miliary tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007367 middle lobe syndrome 'middle lobe syndrome' SubClassOf 'lung disease' 'middle lobe syndrome' SubClassOf 'lung disease' http://www.orpha.net/ORDO/Orphanet_261821 Partial deletion of the long arm of chromosome 12 'Partial deletion of the long arm of chromosome 12' SubClassOf 'Partial deletion of chromosome 12' 'Partial deletion of the long arm of chromosome 12' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_165985 Diazoxide-sensitive diffuse hyperinsulinism 'Diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'Congenital isolated hyperinsulinism' 'Diazoxide-sensitive diffuse hyperinsulinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012061 familial sick sinus syndrome 'familial sick sinus syndrome' SubClassOf 'sick sinus syndrome' 'familial sick sinus syndrome' SubClassOf 'sick sinus syndrome' http://www.ebi.ac.uk/efo/EFO_0007370 milker's nodule 'milker's nodule' SubClassOf 'viral disease' 'milker's nodule' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007353 lymphogranuloma venereum 'lymphogranuloma venereum' SubClassOf 'Chlamydia trachomatis infectious disease' 'lymphogranuloma venereum' SubClassOf 'Chlamydia trachomatis infectious disease' http://www.orpha.net/ORDO/Orphanet_261816 Partial deletion of chromosome 11 'Partial deletion of chromosome 11' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007351 lymphangitis 'lymphangitis' SubClassOf 'lymphatic system disease' 'lymphangitis' SubClassOf 'lymphatic system disease' http://www.ebi.ac.uk/efo/EFO_0007350 lymph node tuberculosis 'lymph node tuberculosis' SubClassOf 'Tuberculosis' 'lymph node tuberculosis' SubClassOf 'lymph node disorder' 'lymph node tuberculosis' SubClassOf 'lymph node disorder' http://www.orpha.net/ORDO/Orphanet_261811 Partial deletion of chromosome 10 'Partial deletion of chromosome 10' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007355 male reproductive organ cancer 'male reproductive organ cancer' SubClassOf 'male reproductive system neoplasm' 'male reproductive organ cancer' SubClassOf 'male reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0007359 mast-cell leukemia 'mast-cell leukemia' SubClassOf 'leukemia' 'mast-cell leukemia' SubClassOf 'leukemia' http://www.ebi.ac.uk/efo/EFO_0007358 Marburg hemorrhagic fever 'Marburg hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' 'Marburg hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' http://www.orpha.net/ORDO/Orphanet_261801 Partial deletion of chromosome 8 'Partial deletion of chromosome 8' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007387 Mycoplasma pneumoniae pneumonia 'Mycoplasma pneumoniae pneumonia' SubClassOf 'bacterial pneumonia' 'Mycoplasma pneumoniae pneumonia' SubClassOf 'bacterial pneumonia' http://www.orpha.net/ORDO/Orphanet_261806 Partial deletion of chromosome 9 'Partial deletion of chromosome 9' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 9' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012089 ichthyosis prematurity syndrome 'ichthyosis prematurity syndrome' SubClassOf 'pneumonitis' 'ichthyosis prematurity syndrome' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007392 nervous system cancer 'nervous system cancer' SubClassOf 'cancer' 'nervous system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0012084 aromatic L-amino acid decarboxylase deficiency 'aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' 'aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' http://www.ebi.ac.uk/efo/EFO_0007390 necatoriasis 'necatoriasis' SubClassOf 'Helminthiasis' 'necatoriasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007375 molluscum contagiosum 'molluscum contagiosum' SubClassOf 'viral disease' 'molluscum contagiosum' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007372 mitral valve stenosis 'mitral valve stenosis' SubClassOf 'mitral valve disease' 'mitral valve stenosis' SubClassOf 'mitral valve disease' http://www.orpha.net/ORDO/Orphanet_165991 Exercise-induced hyperinsulinism 'Exercise-induced hyperinsulinism' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Exercise-induced hyperinsulinism' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Exercise-induced hyperinsulinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_165994 Selective pituitary resistance to thyroid hormone 'Selective pituitary resistance to thyroid hormone' SubClassOf 'Rare hyperthyroidism' 'Selective pituitary resistance to thyroid hormone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_165988 Diazoxide-resistant diffuse hyperinsulinism 'Diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'Diazoxide-resistant hyperinsulinism' 'Diazoxide-resistant diffuse hyperinsulinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007381 multidrug-resistant tuberculosis 'multidrug-resistant tuberculosis' SubClassOf 'drug-resistant tuberculosis' 'multidrug-resistant tuberculosis' SubClassOf 'Tuberculosis' 'multidrug-resistant tuberculosis' SubClassOf 'drug-resistant tuberculosis' http://purl.obolibrary.org/obo/MONDO_0012095 intellectual disability-brachydactyly-Pierre Robin syndrome 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_177926 Symptomatic form of hemophilia A in female carriers 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'Hemophilia A' 'Symptomatic form of hemophilia A in female carriers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_177929 Symptomatic form of hemophilia B in female carriers 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'Hemophilia B' 'Symptomatic form of hemophilia B in female carriers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007398 ocular onchocerciasis 'ocular onchocerciasis' SubClassOf 'onchocerciasis' 'ocular onchocerciasis' SubClassOf 'onchocerciasis' http://www.orpha.net/ORDO/Orphanet_102373 Primary glomerular disease 'Primary glomerular disease' SubClassOf 'Genetic glomerular disease' 'Primary glomerular disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_307967 Punctate palmoplantar keratoderma 'Punctate palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' 'Punctate palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' 'Punctate palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295163 Postaxial polydactyly type A, unilateral 'Postaxial polydactyly type A, unilateral' SubClassOf 'Postaxial polydactyly type A' 'Postaxial polydactyly type A, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295161 Polysyndactyly, bilateral 'Polysyndactyly, bilateral' SubClassOf 'Polysyndactyly' 'Polysyndactyly, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295167 Postaxial polydactyly type B, unilateral 'Postaxial polydactyly type B, unilateral' SubClassOf 'Postaxial polydactyly type B' 'Postaxial polydactyly type B, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295165 Postaxial polydactyly type A, bilateral 'Postaxial polydactyly type A, bilateral' SubClassOf 'Postaxial polydactyly type A' 'Postaxial polydactyly type A, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295169 Postaxial polydactyly type B, bilateral 'Postaxial polydactyly type B, bilateral' SubClassOf 'Postaxial polydactyly type B' 'Postaxial polydactyly type B, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_89937 Autosomal dominant hypophosphatemic rickets 'Autosomal dominant hypophosphatemic rickets' SubClassOf 'Hypophosphatemic rickets' 'Autosomal dominant hypophosphatemic rickets' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_89936 X-linked hypophosphatemia 'X-linked hypophosphatemia' SubClassOf 'Hypophosphatemic rickets' 'X-linked hypophosphatemia' SubClassOf 'participates_in' some ('vitamin metabolic process' and ('has component' some 'abnormal')) 'X-linked hypophosphatemia' SubClassOf 'Genetic renal tubular disease' 'X-linked hypophosphatemia' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'X-linked hypophosphatemia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'X-linked hypophosphatemia' SubClassOf 'vitamin metabolic disorder' http://www.orpha.net/ORDO/Orphanet_89938 Infantile Bartter syndrome with sensorineural deafness 'Infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Bartter syndrome' 'Infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Infantile Bartter syndrome with sensorineural deafness' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295173 Central polydactyly of fingers, bilateral 'Central polydactyly of fingers, bilateral' SubClassOf 'Central polydactyly of fingers' 'Central polydactyly of fingers, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295171 Central polydactyly of fingers, unilateral 'Central polydactyly of fingers, unilateral' SubClassOf 'Central polydactyly of fingers' 'Central polydactyly of fingers, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295189 Zygodactyly type 2 'Zygodactyly type 2' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295187 Zygodactyly type 1 'Zygodactyly type 1' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295191 Zygodactyly type 3 'Zygodactyly type 3' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295195 Synpolydactyly type 1 'Synpolydactyly type 1' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295193 Zygodactyly type 4 'Zygodactyly type 4' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295199 Synpolydactyly type 3 'Synpolydactyly type 3' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295197 Synpolydactyly type 2 'Synpolydactyly type 2' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90970 Primary lipodystrophy 'Primary lipodystrophy' SubClassOf 'Genetic subcutaneous tissue disorder' 'Primary lipodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295122 Split hand, bilateral 'Split hand, bilateral' SubClassOf 'Split hand' 'Split hand, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295120 Split hand, unilateral 'Split hand, unilateral' SubClassOf 'Split hand' 'Split hand, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295126 Split foot, bilateral 'Split foot, bilateral' SubClassOf 'Split foot' 'Split foot, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295124 Split foot, unilateral 'Split foot, unilateral' SubClassOf 'Split foot' 'Split foot, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295118 Adactyly of foot, bilateral 'Adactyly of foot, bilateral' SubClassOf 'Acheiropodia' 'Adactyly of foot, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295130 Brachydactyly of fingers, bilateral 'Brachydactyly of fingers, bilateral' SubClassOf 'Brachydactyly of fingers' 'Brachydactyly of fingers, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295134 Brachydactyly of toes, bilateral 'Brachydactyly of toes, bilateral' SubClassOf 'Brachydactyly of toes' 'Brachydactyly of toes, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295132 Brachydactyly of toes, unilateral 'Brachydactyly of toes, unilateral' SubClassOf 'Brachydactyly of toes' 'Brachydactyly of toes, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75326 Retinal arterial tortuosity 'Retinal arterial tortuosity' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Retinal arterial tortuosity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295138 Symbrachydactyly of hand and foot, bilateral 'Symbrachydactyly of hand and foot, bilateral' SubClassOf 'Symbrachydactyly of hands and feet' 'Symbrachydactyly of hand and foot, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295136 Symbrachydactyly of hand and foot, unilateral 'Symbrachydactyly of hand and foot, unilateral' SubClassOf 'Symbrachydactyly of hands and feet' 'Symbrachydactyly of hand and foot, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295128 Brachydactyly of fingers, unilateral 'Brachydactyly of fingers, unilateral' SubClassOf 'Brachydactyly of fingers' 'Brachydactyly of fingers, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Mitochondrial myopathy' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Neurometabolic disease' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Syndromic genetic deafness' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99324 Paternal uniparental disomy of chromosome 13 'Paternal uniparental disomy of chromosome 13' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 13' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295140 Hyperphalangy, unilateral 'Hyperphalangy, unilateral' SubClassOf 'Hyperphalangy' 'Hyperphalangy, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295144 Polydactyly of a biphalangeal thumb, unilateral 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'Polydactyly of a biphalangeal thumb' 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295142 Hyperphalangy, bilateral 'Hyperphalangy, bilateral' SubClassOf 'Hyperphalangy' 'Hyperphalangy, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295148 Polydactyly of a triphalangeal thumb, unilateral 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'Polydactyly of a triphalangeal thumb' 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295146 Polydactyly of a biphalangeal thumb, bilateral 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'Polydactyly of a biphalangeal thumb' 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329329 Autosomal recessive frontotemporal pachygyria 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'Non-syndromic cerebral malformation due to abnormal neuronal migration' 'Autosomal recessive frontotemporal pachygyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75325 Osteosclerosis - ichthyosis - premature ovarian failure 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Primary bone dysplasia with increased bone density' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_329324 Inverse Klippel-Trénaunay syndrome 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'Congenital vascular bone syndrome' 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_295152 Polydactyly of an index finger, unilateral 'Polydactyly of an index finger, unilateral' SubClassOf 'Polydactyly of an index finger' 'Polydactyly of an index finger, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295150 Polydactyly of a triphalangeal thumb, bilateral 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'Polydactyly of a triphalangeal thumb' 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295154 Polydactyly of an index finger, bilateral 'Polydactyly of an index finger, bilateral' SubClassOf 'Polydactyly of an index finger' 'Polydactyly of an index finger, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295159 Polysyndactyly, unilateral 'Polysyndactyly, unilateral' SubClassOf 'Polysyndactyly' 'Polysyndactyly, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'Mitochondrial myopathy' 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329319 Hereditary thrombocytosis with transverse limb defect 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'Rare thrombotic disorder due to a constitutional platelet anomaly' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'Genetic syndrome with limb reduction defects' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75389 Brain malformation - congenital heart disease - postaxial polydactyly 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_307995 Marginal papular palmoplantar keratoderma 'Marginal papular palmoplantar keratoderma' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Marginal papular palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002708 retinitis 'retinitis' SubClassOf 'retinopathy' 'retinitis' SubClassOf 'retinopathy' http://www.orpha.net/ORDO/Orphanet_329308 Fatty acid hydroxylase-associated neurodegeneration 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'syndromic hereditary optic neuropathy' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75376 Familial drusen 'Familial drusen' SubClassOf 'Disease predisposing to age-related macular degeneration' 'Familial drusen' SubClassOf 'Familial flecked retinopathy' 'Familial drusen' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_75374 Bradyopsia 'Bradyopsia' SubClassOf 'Genetic vitreous-retinal disease' 'Bradyopsia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75373 Progressive bifocal chorioretinal atrophy 'Progressive bifocal chorioretinal atrophy' SubClassOf 'Retinal dystrophy' 'Progressive bifocal chorioretinal atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75378 Oligocone trichromacy 'Oligocone trichromacy' SubClassOf 'Retinal dystrophy' 'Oligocone trichromacy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75377 Central areolar choroidal dystrophy 'Central areolar choroidal dystrophy' SubClassOf 'inherited retinal dystrophy' 'Central areolar choroidal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002715 uterine cancer 'uterine cancer' SubClassOf 'Genital neoplasm, female' 'uterine cancer' SubClassOf 'uterine neoplasm' 'uterine cancer' SubClassOf 'Genital neoplasm, female' 'uterine cancer' SubClassOf 'uterine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002721 necrosis of pituitary 'necrosis of pituitary' SubClassOf 'pituitary gland disease' 'necrosis of pituitary' SubClassOf 'pituitary gland disease' http://purl.obolibrary.org/obo/MONDO_0002722 olfactory nerve neoplasm 'olfactory nerve neoplasm' SubClassOf 'olfactory nerve disorder' 'olfactory nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'olfactory nerve neoplasm' SubClassOf 'olfactory nerve disorder' 'olfactory nerve neoplasm' SubClassOf 'cranial nerve neoplasm' http://www.orpha.net/ORDO/Orphanet_295101 Acheiria, unilateral 'Acheiria, unilateral' SubClassOf 'Acheiria' 'Acheiria, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 'skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_295105 Apodia, unilateral 'Apodia, unilateral' SubClassOf 'Apodia' 'Apodia, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295103 Acheiria, bilateral 'Acheiria, bilateral' SubClassOf 'Acheiria' 'Acheiria, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014701 spondyloepiphyseal dysplasia, Stanescu type 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'type 2 collagenopathy' 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'hereditary disorder of connective tissue' 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0002727 olfactory nerve disorder 'olfactory nerve disorder' SubClassOf 'cranial nerve neuropathy' 'olfactory nerve disorder' SubClassOf 'brain disease' 'olfactory nerve disorder' SubClassOf 'cranial nerve neuropathy' 'olfactory nerve disorder' SubClassOf 'brain disease' http://www.orpha.net/ORDO/Orphanet_295112 Congenital absence/hypoplasia of thumb, bilateral 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'Congenital absence/hypoplasia of thumb' 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295110 Congenital absence/hypoplasia of thumb, unilateral 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'Congenital absence/hypoplasia of thumb' 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295116 Adactyly of foot, unilateral 'Adactyly of foot, unilateral' SubClassOf 'Acheiropodia' 'Adactyly of foot, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295114 Congenital absence/hypoplasia of fingers excluding thumb, bilateral 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'Congenital absence/hypoplasia of fingers excluding thumb' 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295107 Apodia, bilateral 'Apodia, bilateral' SubClassOf 'Apodia' 'Apodia, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014720 autosomal dominant optic atrophy plus syndrome 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'autosomal dominant optic atrophy' 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'autosomal dominant optic atrophy' http://www.orpha.net/ORDO/Orphanet_210163 Congenital lethal myopathy, Compton-North type 'Congenital lethal myopathy, Compton-North type' SubClassOf 'Congenital myopathy' 'Congenital lethal myopathy, Compton-North type' SubClassOf 'Genetic skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0014722 Roifman syndrome 'Roifman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800063 http://www.orpha.net/ORDO/Orphanet_209182 Qualitative or quantitative defects of nebulin 'Qualitative or quantitative defects of nebulin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of nebulin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000107 auriculocondylar syndrome 'auriculocondylar syndrome' SubClassOf 'ear malformation' 'auriculocondylar syndrome' SubClassOf 'ear malformation' http://www.orpha.net/ORDO/Orphanet_209188 Qualitative or quantitative defects of emerin 'Qualitative or quantitative defects of emerin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of emerin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000115 Chiari malformation 'Chiari malformation' SubClassOf 'genetic disorder' 'Chiari malformation' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_209193 Qualitative or quantitative defects of selenoprotein N1 'Qualitative or quantitative defects of selenoprotein N1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of selenoprotein N1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'syndromic intellectual disability' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_209199 Qualitative or quantitative defects of protein SERCA1 'Qualitative or quantitative defects of protein SERCA1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of protein SERCA1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209196 Qualitative or quantitative defects of plectin 'Qualitative or quantitative defects of plectin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of plectin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000127 geleophysic dysplasia 'geleophysic dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type 'spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'syndromic intellectual disability' 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_261796 Partial deletion of chromosome 7 'Partial deletion of chromosome 7' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000129 glutaric aciduria 'glutaric aciduria' SubClassOf 'metabolic disease' 'glutaric aciduria' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000128 giant axonal neuropathy 'giant axonal neuropathy' SubClassOf 'axonal neuropathy' 'giant axonal neuropathy' SubClassOf 'axonal neuropathy' http://www.orpha.net/ORDO/Orphanet_261791 Partial deletion of chromosome 6 'Partial deletion of chromosome 6' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000136 keratosis follicularis spinulosa decalvans 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis pilaris atrophicans' 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis pilaris atrophicans' http://www.orpha.net/ORDO/Orphanet_261776 Partial deletion of chromosome 3 'Partial deletion of chromosome 3' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_199351 Adult-onset dystonia-parkinsonism 'Adult-onset dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'Adult-onset dystonia-parkinsonism' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_199354 CARASIL 'CARASIL' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'CARASIL' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_261786 Partial deletion of chromosome 5 'Partial deletion of chromosome 5' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99361 Familial medullary thyroid carcinoma 'Familial medullary thyroid carcinoma' SubClassOf 'Multiple endocrine neoplasia type 2' 'Familial medullary thyroid carcinoma' SubClassOf 'Genetic endocrine tumor' 'Familial medullary thyroid carcinoma' SubClassOf 'follicular thyroid carcinoma' 'Familial medullary thyroid carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261781 Partial deletion of chromosome 4 'Partial deletion of chromosome 4' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261766 Partial deletion of chromosome 1 'Partial deletion of chromosome 1' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007306 herpangina 'herpangina' SubClassOf 'viral disease' 'herpangina' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007305 hepatitis A virus infection 'hepatitis A virus infection' SubClassOf 'viral human hepatitis infection' 'hepatitis A virus infection' SubClassOf 'viral human hepatitis infection' http://www.ebi.ac.uk/efo/EFO_0007303 hepatitis E virus infection 'hepatitis E virus infection' SubClassOf 'viral human hepatitis infection' 'hepatitis E virus infection' SubClassOf 'viral human hepatitis infection' http://purl.obolibrary.org/obo/MONDO_0000141 mosaic variegated aneuploidy syndrome 'mosaic variegated aneuploidy syndrome' SubClassOf 'chromosomal disorder' 'mosaic variegated aneuploidy syndrome' SubClassOf 'hereditary neoplastic syndrome' 'mosaic variegated aneuploidy syndrome' SubClassOf 'chromosomal disorder' 'mosaic variegated aneuploidy syndrome' SubClassOf 'hereditary neoplastic syndrome' http://www.ebi.ac.uk/efo/EFO_0007307 Herpes simplex virus gingivostomatitis 'Herpes simplex virus gingivostomatitis' SubClassOf 'stomatitis' 'Herpes simplex virus gingivostomatitis' SubClassOf 'Herpes simplex infection' 'Herpes simplex virus gingivostomatitis' SubClassOf 'stomatitis' 'Herpes simplex virus gingivostomatitis' SubClassOf 'Herpes simplex infection' http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2J 'autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'qualitative or quantitative defects of titin' 'autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100493 http://www.ebi.ac.uk/efo/EFO_0010956 peroxisome biogenesis disorder, complementation group 7 'peroxisome biogenesis disorder, complementation group 7' SubClassOf 'Peroxisomal disease' 'peroxisome biogenesis disorder, complementation group 7' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'peroxisome biogenesis disorder, complementation group 7' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_261771 Partial deletion of chromosome 2 'Partial deletion of chromosome 2' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199348 Thiamine-responsive encephalopathy 'Thiamine-responsive encephalopathy' SubClassOf 'Disorder of thiamine metabolism and transport' 'Thiamine-responsive encephalopathy' SubClassOf 'participates_in' some (('thiamine metabolic process' and ('has component' some 'abnormal')) and ('vitamin transport' and ('has component' some 'abnormal'))) 'Thiamine-responsive encephalopathy' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Thiamine-responsive encephalopathy' SubClassOf 'vitamin metabolic disorder' http://www.orpha.net/ORDO/Orphanet_199329 Congenital myopathy, Paradas type 'Congenital myopathy, Paradas type' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Congenital myopathy, Paradas type' SubClassOf 'Congenital muscular dystrophy' 'Congenital myopathy, Paradas type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199332 Endocrine-cerebro-osteodysplasia syndrome 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199337 Pancreatic insufficiency - anemia - hyperostosis 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Constitutional dyserythropoietic anemia' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Rare constitutional anemia' http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome 'Luscan-Lumish syndrome' SubClassOf 'genetic disorder' 'Luscan-Lumish syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 http://www.ebi.ac.uk/efo/EFO_0007687 microRNA profiling by RT-PCR 'microRNA profiling by RT-PCR' SubClassOf 'assay by array' 'microRNA profiling by RT-PCR' SubClassOf 'RNA assay' http://purl.obolibrary.org/obo/MONDO_0002586 thymus cancer 'thymus cancer' SubClassOf 'thymus neoplasm' 'thymus cancer' SubClassOf 'thymus neoplasm' http://purl.obolibrary.org/obo/MONDO_0002580 orbit rhabdomyosarcoma 'orbit rhabdomyosarcoma' SubClassOf 'orbit sarcoma' 'orbit rhabdomyosarcoma' SubClassOf 'orbit sarcoma' http://www.ebi.ac.uk/efo/EFO_0007689 3C '3C' SubClassOf 'assay by array' http://www.ebi.ac.uk/efo/EFO_0007690 4C '4C' SubClassOf 'assay by array' http://www.ebi.ac.uk/efo/EFO_0005046 cutaneous Leishmaniasis 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0005045 visceral Leishmaniasis 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0005032 IP-seq 'IP-seq' SubClassOf 'assay by sequencer' 'IP-seq' SubClassOf 'assay by high throughput sequencer' http://www.orpha.net/ORDO/Orphanet_210571 Dystonia 16 'Dystonia 16' SubClassOf 'Persistent combined dystonia' 'Dystonia 16' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Dystonia 16' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163684 Leukoencephalopathy - dystonia - motor neuropathy 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_163681 Cortical dysplasia - focal epilepsy syndrome 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'Rare genetic epilepsy' http://www.orpha.net/ORDO/Orphanet_199642 Isolated congenital microcephaly 'Isolated congenital microcephaly' SubClassOf 'Genetic cerebral malformation' 'Isolated congenital microcephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199647 Isolated encephalocele 'Isolated encephalocele' SubClassOf 'Cephalocele' 'Isolated encephalocele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199627 Atypical autism 'Atypical autism' SubClassOf 'Rare pervasive developmental disorder' 'Atypical autism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0030030 Quant-seq 'Quant-seq' SubClassOf 'RNA assay' 'Quant-seq' SubClassOf 'assay by sequencer' http://www.ebi.ac.uk/efo/EFO_0005059 acylcarnitine measurement 'acylcarnitine measurement' SubClassOf 'is_about' some 'Disorder of carnitine cycle and carnitine transport' http://www.orpha.net/ORDO/Orphanet_163668 Spondyloepiphyseal dysplasia, MacDermot type 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'Syndromic genetic deafness' 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005088 testicular carcinoma 'testicular carcinoma' SubClassOf 'neoplasm of testis' 'testicular carcinoma' SubClassOf 'neoplasm of testis' http://www.ebi.ac.uk/efo/EFO_0030008 CITE-seq (cell surface protein profiling) 'CITE-seq (cell surface protein profiling)' SubClassOf 'protein assay' http://www.ebi.ac.uk/efo/EFO_0030011 10x feature barcode (cell surface protein profiling) '10x feature barcode (cell surface protein profiling)' SubClassOf 'RNA assay' '10x feature barcode (cell surface protein profiling)' SubClassOf 'protein assay' http://www.orpha.net/ORDO/Orphanet_163696 Action myoclonus - renal failure syndrome 'Action myoclonus - renal failure syndrome' SubClassOf 'Epilepsy syndrome' 'Action myoclonus - renal failure syndrome' SubClassOf 'Primary glomerular disease' 'Action myoclonus - renal failure syndrome' SubClassOf 'Genetic glomerular disease' 'Action myoclonus - renal failure syndrome' SubClassOf 'Rare genetic epilepsy' http://www.orpha.net/ORDO/Orphanet_100069 Semantic dementia 'Semantic dementia' SubClassOf 'Frontotemporal dementia' 'Semantic dementia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100071 Mosaic trisomy 3 'Mosaic trisomy 3' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163631 Bile acid synthesis defect with cholestasis and malabsorption 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'Familial intrahepatic cholestasis' 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'genetic biliary tract disease' 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'Rare metabolic liver disease' http://www.orpha.net/ORDO/Orphanet_100070 Progressive non-fluent aphasia 'Progressive non-fluent aphasia' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Progressive non-fluent aphasia' SubClassOf 'Frontotemporal dementia' 'Progressive non-fluent aphasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100047 Esophageal duplication cyst 'Esophageal duplication cyst' SubClassOf 'Duplication of the esophagus' 'Esophageal duplication cyst' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'has_disease_location' some 'motor neuron' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'Rare genetic neurological disorder' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'hereditary motor neuron disease' http://www.orpha.net/ORDO/Orphanet_100048 Tubular duplication of the esophagus 'Tubular duplication of the esophagus' SubClassOf 'Duplication of the esophagus' 'Tubular duplication of the esophagus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_disease_location' some 'motor neuron' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Rare genetic neurological disorder' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'hereditary motor neuron disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_163662 Spondyloepiphyseal dysplasia, Reardon type 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_disease_location' some 'motor neuron' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Rare genetic neurological disorder' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'hereditary motor neuron disease' http://www.orpha.net/ORDO/Orphanet_100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'hereditary motor neuron disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Rare genetic neurological disorder' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_disease_location' some 'motor neuron' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_163665 Spondyloepiphyseal dysplasia tarda, Kohn type 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100054 Hereditary angioedema type 3 'Hereditary angioedema type 3' SubClassOf 'Hereditary angioedema' 'Hereditary angioedema type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100050 Hereditary angioedema type 1 'Hereditary angioedema type 1' SubClassOf 'Hereditary angioedema' 'Hereditary angioedema type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163654 Spondyloepiphyseal dysplasia, Cantu type 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100051 Hereditary angioedema type 2 'Hereditary angioedema type 2' SubClassOf 'Hereditary angioedema' 'Hereditary angioedema type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163649 Spondyloepiphyseal dysplasia, Nishimura type 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'Orofacial clefting syndrome' 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_210548 Macrocephaly-autism syndrome 'Macrocephaly-autism syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Macrocephaly-autism syndrome' SubClassOf 'Rare disease with autism' 'Macrocephaly-autism syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319651 Constitutional megaloblastic anemia with severe neurologic disease 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Disorder of folate metabolism and transport' 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99688 Dermotrichic syndrome 'Dermotrichic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermotrichic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319640 Retinal macular dystrophy type 2 'Retinal macular dystrophy type 2' SubClassOf 'Genetic macular dystrophy' 'Retinal macular dystrophy type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99642 Spondyloepimetaphyseal dysplasia, Handigodu type 'Spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99645 Dappled diaphyseal dysplasia 'Dappled diaphyseal dysplasia' SubClassOf 'Chondrodysplasia punctata' 'Dappled diaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99647 Cheirospondyloenchondromatosis 'Cheirospondyloenchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Cheirospondyloenchondromatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002612 frontal lobe epilepsy 'frontal lobe epilepsy' SubClassOf 'partial epilepsy' 'frontal lobe epilepsy' SubClassOf 'partial epilepsy' http://www.orpha.net/ORDO/Orphanet_319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002614 bone inflammation disease 'bone inflammation disease' SubClassOf 'bone disease' 'bone inflammation disease' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_330050 Lethal encephalopathy due to mitochondrial and peroxisomal fission defect 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Neurometabolic disease' 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_330054 Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Syndromic cataract' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Rare cataract' http://purl.obolibrary.org/obo/MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014608 mandibulofacial dysostosis with alopecia 'mandibulofacial dysostosis with alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://purl.obolibrary.org/obo/MONDO_0014601 autosomal recessive spinocerebellar ataxia 20 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'syndromic intellectual disability' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0002629 bone osteosarcoma 'bone osteosarcoma' SubClassOf 'bone sarcoma' 'bone osteosarcoma' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002633 cranial nerve neoplasm 'cranial nerve neoplasm' SubClassOf 'cranial nerve neuropathy' 'cranial nerve neoplasm' SubClassOf 'cranial nerve neuropathy' http://www.orpha.net/ORDO/Orphanet_330041 Autosomal dominant methemoglobinemia 'Autosomal dominant methemoglobinemia' SubClassOf 'Hereditary methemoglobinemia' 'Autosomal dominant methemoglobinemia' SubClassOf 'Rare constitutional anemia' http://purl.obolibrary.org/obo/MONDO_0002647 laryngitis 'laryngitis' SubClassOf 'inflammatory disease' 'laryngitis' SubClassOf 'laryngeal disease' 'laryngitis' SubClassOf 'inflammatory disease' 'laryngitis' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0002654 uterine disorder 'uterine disorder' SubClassOf 'female reproductive system disease' 'uterine disorder' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0002652 anus adenocarcinoma 'anus adenocarcinoma' SubClassOf 'anal carcinoma' 'anus adenocarcinoma' SubClassOf 'anal carcinoma' http://www.orpha.net/ORDO/Orphanet_330029 Hypotrichosis-deafness syndrome 'Hypotrichosis-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Hypotrichosis-deafness syndrome' SubClassOf 'Alopecia' 'Hypotrichosis-deafness syndrome' SubClassOf 'Syndromic nail anomaly' 'Hypotrichosis-deafness syndrome' SubClassOf 'Erythrokeratoderma variabilis progressiva' 'Hypotrichosis-deafness syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002661 uveal disorder 'uveal disorder' SubClassOf 'eye disease' 'uveal disorder' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'frontotemporal dementia with motor neuron disease' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'frontotemporal dementia with motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0002678 pediatric fibrosarcoma 'pediatric fibrosarcoma' SubClassOf 'fibrosarcoma' 'pediatric fibrosarcoma' SubClassOf 'childhood cancer' 'pediatric fibrosarcoma' SubClassOf 'childhood cancer' 'pediatric fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'FGFR3-related chondrodysplasia' 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'autosomal dominant disease' 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'FGFR3-related chondrodysplasia' 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0005001 phenylalanine measurement 'phenylalanine measurement' SubClassOf 'is_about' some 'Phenylketonuria' http://www.orpha.net/ORDO/Orphanet_319675 Microcephalic primordial dwarfism, Dauber type 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0012008 Lelis syndrome 'Lelis syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Lelis syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_319678 Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'Coenzyme Q10 deficiency' 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.orpha.net/ORDO/Orphanet_319671 Microcephalic primordial dwarfism, Alazami type 'Microcephalic primordial dwarfism, Alazami type' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic primordial dwarfism, Alazami type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012019 spondyloepiphyseal dysplasia, Kimberley type 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'genetic disorder' 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'aggrecan-related bone disorder' 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'aggrecan-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome 'capillary malformation-arteriovenous malformation syndrome' SubClassOf 'capillary malformation' 'capillary malformation-arteriovenous malformation syndrome' SubClassOf 'capillary malformation' http://purl.obolibrary.org/obo/MONDO_0002464 lacrimal gland cancer 'lacrimal gland cancer' SubClassOf 'lacrimal system cancer' 'lacrimal gland cancer' SubClassOf 'lacrimal system cancer' http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis 'glomerulonephritis' SubClassOf 'glomerular disease' 'glomerulonephritis' SubClassOf 'nephritis' 'glomerulonephritis' SubClassOf 'glomerular disease' 'glomerulonephritis' SubClassOf 'nephritis' http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria 'primary hyperoxaluria' SubClassOf 'genetic disorder' 'primary hyperoxaluria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002475 lacrimal gland adenocarcinoma 'lacrimal gland adenocarcinoma' SubClassOf 'adenocarcinoma' 'lacrimal gland adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002471 bursitis 'bursitis' SubClassOf 'inflammatory disease' 'bursitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0002490 breast sarcoma 'breast sarcoma' SubClassOf 'breast cancer' 'breast sarcoma' SubClassOf 'breast cancer' http://www.orpha.net/ORDO/Orphanet_307711 Disease with diffuse palmoplantar keratoderma as a major feature 'Disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'Diffuse palmoplantar keratoderma' 'Disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'Genetic epidermal disorder' http://www.orpha.net/ORDO/Orphanet_51577 Cobblestone lissencephaly 'Cobblestone lissencephaly' SubClassOf 'Lissencephaly' 'Cobblestone lissencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_87503 Mal de Meleda 'Mal de Meleda' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' 'Mal de Meleda' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75508 Angioosteohypotrophic syndrome 'Angioosteohypotrophic syndrome' SubClassOf 'Congenital vascular bone syndrome' 'Angioosteohypotrophic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100032 Hypocalcified amelogenesis imperfecta 'Hypocalcified amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' 'Hypocalcified amelogenesis imperfecta' SubClassOf 'Rare odontal or periodontal disorder' http://www.orpha.net/ORDO/Orphanet_100031 Hypoplastic amelogenesis imperfecta 'Hypoplastic amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' 'Hypoplastic amelogenesis imperfecta' SubClassOf 'Rare odontal or periodontal disorder' http://www.orpha.net/ORDO/Orphanet_100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'Amelogenesis imperfecta' 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100033 Hypomaturation amelogenesis imperfecta 'Hypomaturation amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' 'Hypomaturation amelogenesis imperfecta' SubClassOf 'Rare odontal or periodontal disorder' http://www.orpha.net/ORDO/Orphanet_307766 Curly hair-acral keratoderma-caries syndrome 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_100014 Lissencephaly with cerebellar hypoplasia type D 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100013 Lissencephaly with cerebellar hypoplasia type C 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100016 Lissencephaly with cerebellar hypoplasia type F 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100015 Lissencephaly with cerebellar hypoplasia type E 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100012 Lissencephaly with cerebellar hypoplasia type B 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100011 Lissencephaly with cerebellar hypoplasia type A 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002508 gingivitis 'gingivitis' SubClassOf 'gingival disease' 'gingivitis' SubClassOf 'gingival disease' http://www.orpha.net/ORDO/Orphanet_261992 Partial monosomy of the short arm of chromosome 20 'Partial monosomy of the short arm of chromosome 20' SubClassOf 'Partial deletion of chromosome 20' 'Partial monosomy of the short arm of chromosome 20' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002507 gingival overgrowth 'gingival overgrowth' SubClassOf 'gingival disease' 'gingival overgrowth' SubClassOf 'gingival disease' http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm 'kidney benign neoplasm' SubClassOf 'kidney neoplasm' 'kidney benign neoplasm' SubClassOf 'benign urinary system neoplasm' 'kidney benign neoplasm' SubClassOf 'kidney neoplasm' 'kidney benign neoplasm' SubClassOf 'benign urinary system neoplasm' http://www.orpha.net/ORDO/Orphanet_261974 Partial deletion of the short arm of chromosome 18 'Partial deletion of the short arm of chromosome 18' SubClassOf 'Partial deletion of chromosome 18' 'Partial deletion of the short arm of chromosome 18' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Disorder of multiple glycosylation' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261983 Partial deletion of the short arm of chromosome 19 'Partial deletion of the short arm of chromosome 19' SubClassOf 'Partial deletion of chromosome 19' 'Partial deletion of the short arm of chromosome 19' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261965 Partial monosomy of the short arm of chromosome 17 'Partial monosomy of the short arm of chromosome 17' SubClassOf 'Partial deletion of chromosome 17' 'Partial monosomy of the short arm of chromosome 17' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0002520 hepatic porphyria 'hepatic porphyria' SubClassOf 'porphyria' 'hepatic porphyria' SubClassOf 'liver disease' 'hepatic porphyria' SubClassOf 'porphyria' 'hepatic porphyria' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0014507 Catel-Manzke syndrome 'Catel-Manzke syndrome' SubClassOf 'syndromic intellectual disability' 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800094 'Catel-Manzke syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0007503 suppurative otitis media 'suppurative otitis media' SubClassOf 'Otitis media' 'suppurative otitis media' SubClassOf 'Otitis media' http://www.ebi.ac.uk/efo/EFO_0007505 tabes dorsalis 'tabes dorsalis' SubClassOf 'infectious disorder of the nervous system' 'tabes dorsalis' SubClassOf 'neurosyphilis' 'tabes dorsalis' SubClassOf 'infectious disorder of the nervous system' 'tabes dorsalis' SubClassOf 'neurosyphilis' http://purl.obolibrary.org/obo/MONDO_0002529 skin squamous cell carcinoma 'skin squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'skin squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_261956 Partial deletion of the short arm of chromosome 16 'Partial deletion of the short arm of chromosome 16' SubClassOf 'Partial deletion of chromosome 16' 'Partial deletion of the short arm of chromosome 16' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014518 platelet-type bleeding disorder 19 'platelet-type bleeding disorder 19' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 19' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0014510 fatty acyl-CoA reductase 1 deficiency 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'chondrodysplasia punctata' http://www.ebi.ac.uk/efo/EFO_0007521 Trichomonas vaginitis 'Trichomonas vaginitis' SubClassOf 'sexually transmitted disease' 'Trichomonas vaginitis' SubClassOf 'trichomoniasis' 'Trichomonas vaginitis' SubClassOf 'sexually transmitted disease' 'Trichomonas vaginitis' SubClassOf 'trichomoniasis' http://www.ebi.ac.uk/efo/EFO_0007525 tricuspid valve stenosis 'tricuspid valve stenosis' SubClassOf 'tricuspid valve disease' 'tricuspid valve stenosis' SubClassOf 'tricuspid valve disease' http://www.ebi.ac.uk/efo/EFO_0007528 tuberculous empyema 'tuberculous empyema' SubClassOf 'empyema' 'tuberculous empyema' SubClassOf 'empyema' http://www.ebi.ac.uk/efo/EFO_0007527 tropical spastic paraparesis 'tropical spastic paraparesis' SubClassOf 'infectious disorder of the nervous system' 'tropical spastic paraparesis' SubClassOf 'infectious disorder of the nervous system' http://purl.obolibrary.org/obo/MONDO_0002548 cellular schwannoma 'cellular schwannoma' SubClassOf 'schwannoma' 'cellular schwannoma' SubClassOf 'schwannoma' http://www.ebi.ac.uk/efo/EFO_0007512 tinea pedis 'tinea pedis' SubClassOf 'dermatophytosis' 'tinea pedis' SubClassOf 'dermatophytosis' http://www.ebi.ac.uk/efo/EFO_0007517 toxoplasmosis 'toxoplasmosis' SubClassOf 'coccidiosis' 'toxoplasmosis' SubClassOf 'coccidiosis' http://purl.obolibrary.org/obo/MONDO_0002564 jejunal neoplasm 'jejunal neoplasm' SubClassOf 'small intestine neoplasm' 'jejunal neoplasm' SubClassOf 'small intestine neoplasm' http://www.ebi.ac.uk/efo/EFO_0007541 viral pneumonia 'viral pneumonia' SubClassOf 'pneumonia' 'viral pneumonia' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease 'lysosomal storage disease' SubClassOf 'inborn errors of metabolism' 'lysosomal storage disease' SubClassOf 'inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0007549 Zollinger-Ellison Syndrome 'Zollinger-Ellison Syndrome' SubClassOf 'gastrin secretion abnormality' 'Zollinger-Ellison Syndrome' SubClassOf 'gastrin secretion abnormality' http://www.ebi.ac.uk/efo/EFO_0007532 uterine corpus cancer 'uterine corpus cancer' SubClassOf 'corpus uteri neoplasm' 'uterine corpus cancer' SubClassOf 'uterine cancer' 'uterine corpus cancer' SubClassOf 'corpus uteri neoplasm' 'uterine corpus cancer' SubClassOf 'uterine cancer' http://www.ebi.ac.uk/efo/EFO_0007531 urogenital tuberculosis 'urogenital tuberculosis' SubClassOf 'disease of genitourinary system' 'urogenital tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007530 urinary schistosomiasis 'urinary schistosomiasis' SubClassOf 'schistosomiasis' 'urinary schistosomiasis' SubClassOf 'schistosomiasis' http://www.ebi.ac.uk/efo/EFO_0007537 vestibular neuronitis 'vestibular neuronitis' SubClassOf 'vestibulocochlear nerve disorder' 'vestibular neuronitis' SubClassOf 'vestibulocochlear nerve disorder' http://www.ebi.ac.uk/efo/EFO_0007536 vesicoureteral reflux 'vesicoureteral reflux' SubClassOf 'ureteral disorder' 'vesicoureteral reflux' SubClassOf 'bladder disease' 'vesicoureteral reflux' SubClassOf 'ureteral disorder' 'vesicoureteral reflux' SubClassOf 'bladder disease' http://www.ebi.ac.uk/efo/EFO_0007538 viral encephalitis 'viral encephalitis' SubClassOf 'infectious encephalitis' 'viral encephalitis' SubClassOf 'encephalitis' 'viral encephalitis' SubClassOf 'infectious encephalitis' http://www.orpha.net/ORDO/Orphanet_156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156731 Dyssegmental dysplasia, Rolland-Desbuquois type 'Dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_83420 Proximal spinal muscular atrophy type 4 'Proximal spinal muscular atrophy type 4' SubClassOf 'Proximal spinal muscular atrophy' 'Proximal spinal muscular atrophy type 4' SubClassOf 'hereditary motor neuron disease' 'Proximal spinal muscular atrophy type 4' SubClassOf 'Genetic motor neuron disease' 'Proximal spinal muscular atrophy type 4' SubClassOf 'spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_83419 Proximal spinal muscular atrophy type 3 'Proximal spinal muscular atrophy type 3' SubClassOf 'Proximal spinal muscular atrophy' 'Proximal spinal muscular atrophy type 3' SubClassOf 'Genetic motor neuron disease' 'Proximal spinal muscular atrophy type 3' SubClassOf 'spinal muscular atrophy' 'Proximal spinal muscular atrophy type 3' SubClassOf 'hereditary motor neuron disease' http://www.orpha.net/ORDO/Orphanet_83418 Proximal spinal muscular atrophy type 2 'Proximal spinal muscular atrophy type 2' SubClassOf 'Proximal spinal muscular atrophy' 'Proximal spinal muscular atrophy type 2' SubClassOf 'Genetic motor neuron disease' 'Proximal spinal muscular atrophy type 2' SubClassOf 'spinal muscular atrophy' 'Proximal spinal muscular atrophy type 2' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0009804 osteogenesis imperfecta type 3 'osteogenesis imperfecta type 3' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://purl.obolibrary.org/obo/MONDO_0010808 fatal familial insomnia 'fatal familial insomnia' SubClassOf 'insomnia' 'fatal familial insomnia' SubClassOf 'insomnia' http://purl.obolibrary.org/obo/MONDO_0010803 Eiken syndrome 'Eiken syndrome' SubClassOf 'genetic disorder' 'Eiken syndrome' SubClassOf 'multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_264580 Glycogen storage disease due to liver phosphorylase kinase deficiency 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'Rare metabolic liver disease' 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease due to phosphorylase kinase deficiency' 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009825 5-oxoprolinase deficiency '5-oxoprolinase deficiency' SubClassOf 'inborn disorder of the gamma-glutamyl cycle' '5-oxoprolinase deficiency' SubClassOf 'inborn disorder of the gamma-glutamyl cycle' http://www.orpha.net/ORDO/Orphanet_276556 Hyperinsulinism due to UCP2 deficiency 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to UCP2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009824 primary hyperoxaluria type 2 'primary hyperoxaluria type 2' SubClassOf 'primary hyperoxaluria' 'primary hyperoxaluria type 2' SubClassOf 'primary hyperoxaluria' http://purl.obolibrary.org/obo/MONDO_0009823 primary hyperoxaluria type 1 'primary hyperoxaluria type 1' SubClassOf 'primary hyperoxaluria' 'primary hyperoxaluria type 1' SubClassOf 'primary hyperoxaluria' http://purl.obolibrary.org/obo/MONDO_0009821 lethal osteosclerotic bone dysplasia 'lethal osteosclerotic bone dysplasia' SubClassOf 'genetic disorder' 'lethal osteosclerotic bone dysplasia' SubClassOf 'neonatal osteosclerotic dysplasia' 'lethal osteosclerotic bone dysplasia' SubClassOf 'neonatal osteosclerotic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009820 osteoporosis-pseudoglioma syndrome 'osteoporosis-pseudoglioma syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://www.orpha.net/ORDO/Orphanet_71493 Familial thrombocytosis 'Familial thrombocytosis' SubClassOf 'Rare thrombotic disorder due to a constitutional platelet anomaly' 'Familial thrombocytosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95488 Non-acquired pituitary hormone deficiency 'Non-acquired pituitary hormone deficiency' SubClassOf 'Pituitary deficiency' 'Non-acquired pituitary hormone deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_83461 Congenital primary aphakia 'Congenital primary aphakia' SubClassOf 'developmental defect of the eye' 'Congenital primary aphakia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Congenital primary aphakia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009830 parkinsonian-pyramidal syndrome 'parkinsonian-pyramidal syndrome' SubClassOf 'Parkinson disease' 'parkinsonian-pyramidal syndrome' SubClassOf 'Parkinson disease' http://www.orpha.net/ORDO/Orphanet_95495 Disease associated with non-acquired combined pituitary hormone deficiency 'Disease associated with non-acquired combined pituitary hormone deficiency' SubClassOf 'Non-acquired combined pituitary hormone deficiency' 'Disease associated with non-acquired combined pituitary hormone deficiency' SubClassOf 'Rare genetic hypothalamic or pituitary disease' http://www.orpha.net/ORDO/Orphanet_95496 Pituitary stalk interruption syndrome 'Pituitary stalk interruption syndrome' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Pituitary stalk interruption syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009845 pelviscapular dysplasia 'pelviscapular dysplasia' SubClassOf 'dysostosis of genetic origin' 'pelviscapular dysplasia' SubClassOf 'congenital limb malformation' 'pelviscapular dysplasia' SubClassOf 'non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_83454 Glomuvenous malformation 'Glomuvenous malformation' SubClassOf 'Genetic neurovascular malformation' 'Glomuvenous malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010835 pterygium colli-intellectual disability-digital anomalies syndrome 'pterygium colli-intellectual disability-digital anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'pterygium colli-intellectual disability-digital anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001506 primary angle closure glaucoma 'primary angle closure glaucoma' SubClassOf 'angle-closure glaucoma' 'primary angle closure glaucoma' SubClassOf 'angle-closure glaucoma' http://purl.obolibrary.org/obo/MONDO_0022800 type 2 collagenopathy 'type 2 collagenopathy' SubClassOf 'primary bone dysplasia' 'type 2 collagenopathy' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0009858 Pfeiffer-Palm-Teller syndrome 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'syndromic intellectual disability' 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009856 Peters plus syndrome 'Peters plus syndrome' SubClassOf 'syndromic disease' 'Peters plus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome 'Imerslund-Grasbeck syndrome' SubClassOf 'megaloblastic anemia' 'Imerslund-Grasbeck syndrome' SubClassOf 'megaloblastic anemia' http://www.orpha.net/ORDO/Orphanet_95429 Angioma serpiginosum 'Angioma serpiginosum' SubClassOf 'Genetic skin vascular disorder' 'Angioma serpiginosum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001517 renal fibrosis 'renal fibrosis' SubClassOf 'glomerulosclerosis' 'renal fibrosis' SubClassOf 'glomerulosclerosis' http://www.orpha.net/ORDO/Orphanet_95430 Congenital tracheomalacia 'Congenital tracheomalacia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Congenital tracheomalacia' SubClassOf 'Tracheal anomaly' 'Congenital tracheomalacia' SubClassOf 'Rare otorhinolaryngological malformation' 'Congenital tracheomalacia' SubClassOf 'Genetic respiratory or mediastinal malformation' http://www.orpha.net/ORDO/Orphanet_95433 Autosomal recessive cerebellar ataxia - blindness - deafness 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'Rare hereditary ataxia' 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'Early-onset ataxia with dementia' 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' http://purl.obolibrary.org/obo/MONDO_0007208 Boomerang dysplasia 'Boomerang dysplasia' SubClassOf 'genetic disorder' 'Boomerang dysplasia' SubClassOf 'osteochondrodysplasia' 'Boomerang dysplasia' SubClassOf 'filamin-related bone disorder' 'Boomerang dysplasia' SubClassOf 'osteochondrodysplasia' 'Boomerang dysplasia' SubClassOf 'filamin-related bone disorder' http://www.orpha.net/ORDO/Orphanet_276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-resistant focal hyperinsulinism' 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007207 Böök syndrome 'Böök syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Böök syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007205 diaphyseal medullary stenosis-bone malignancy syndrome 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'bone neoplasm' 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'primary bone dysplasia' 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'bone neoplasm' 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'hereditary disorder of connective tissue' 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://www.orpha.net/ORDO/Orphanet_95434 Autosomal recessive cerebellar ataxia - saccadic intrusion 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'Early-onset ataxia with dementia' 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'Rare hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0007203 blue rubber bleb nevus 'blue rubber bleb nevus' SubClassOf 'skin vascular disease' 'blue rubber bleb nevus' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0007200 blepharonasofacial malformation syndrome 'blepharonasofacial malformation syndrome' SubClassOf 'syndromic intellectual disability' 'blepharonasofacial malformation syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009862 dihydropteridine reductase deficiency 'dihydropteridine reductase deficiency' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' 'dihydropteridine reductase deficiency' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' http://purl.obolibrary.org/obo/MONDO_0009861 phenylketonuria 'phenylketonuria' SubClassOf 'disorder of phenylalanine metabolism' 'phenylketonuria' SubClassOf 'autosomal recessive disease' 'phenylketonuria' SubClassOf 'disorder of phenylalanine metabolism' 'phenylketonuria' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010851 Lowry-MacLean syndrome 'Lowry-MacLean syndrome' SubClassOf 'syndromic intellectual disability' 'Lowry-MacLean syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_276585 Diazoxide-resistant hyperinsulinism 'Diazoxide-resistant hyperinsulinism' SubClassOf 'Congenital isolated hyperinsulinism' 'Diazoxide-resistant hyperinsulinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007219 Osebold-Remondini syndrome 'Osebold-Remondini syndrome' SubClassOf 'acromesomelic dysplasia' 'Osebold-Remondini syndrome' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007215 brachydactyly type A1 'brachydactyly type A1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800093 http://purl.obolibrary.org/obo/MONDO_0009877 Laron syndrome 'Laron syndrome' SubClassOf 'autosomal recessive disease' 'Laron syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010865 pseudoaminopterin syndrome 'pseudoaminopterin syndrome' SubClassOf 'syndromic intellectual disability' 'pseudoaminopterin syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007211 brachydactyly-arterial hypertension syndrome 'brachydactyly-arterial hypertension syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800094 http://www.orpha.net/ORDO/Orphanet_276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009885 Scott syndrome 'Scott syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'Scott syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0010877 Charcot-Marie-Tooth disease type 5 'Charcot-Marie-Tooth disease type 5' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease type 5' SubClassOf 'hereditary spastic paraplegia' 'Charcot-Marie-Tooth disease type 5' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease type 5' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0007220 brachydactyly type B1 'brachydactyly type B1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800093 http://purl.obolibrary.org/obo/MONDO_0007221 brachydactyly type C 'brachydactyly type C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800093 http://purl.obolibrary.org/obo/MONDO_0010879 CODAS syndrome 'CODAS syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'CODAS syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy 'tibial muscular dystrophy' SubClassOf 'qualitative or quantitative defects of titin' 'tibial muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100494 http://purl.obolibrary.org/obo/MONDO_0019201 thyrotoxic periodic paralysis 'thyrotoxic periodic paralysis' SubClassOf 'familial periodic paralysis' 'thyrotoxic periodic paralysis' SubClassOf 'familial periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa 'retinitis pigmentosa' SubClassOf 'inherited retinal dystrophy' 'retinitis pigmentosa' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020213 stromal corneal dystrophy 'stromal corneal dystrophy' SubClassOf 'corneal dystrophy' 'stromal corneal dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007235 branchiooculofacial syndrome 'branchiooculofacial syndrome' SubClassOf 'autosomal dominant disease' 'branchiooculofacial syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0010887 isolated anterior cervical hypertrichosis 'isolated anterior cervical hypertrichosis' SubClassOf 'hypertrichosis' 'isolated anterior cervical hypertrichosis' SubClassOf 'hypertrichosis' http://purl.obolibrary.org/obo/MONDO_0020212 superficial corneal dystrophy 'superficial corneal dystrophy' SubClassOf 'corneal dystrophy' 'superficial corneal dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010886 2q37 microdeletion syndrome '2q37 microdeletion syndrome' SubClassOf 'syndromic disease' '2q37 microdeletion syndrome' SubClassOf 'syndromic disease' '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800094 http://purl.obolibrary.org/obo/MONDO_0010888 endometriosis of uterus 'endometriosis of uterus' SubClassOf 'endometriosis' 'endometriosis of uterus' SubClassOf 'endometriosis' http://purl.obolibrary.org/obo/MONDO_0007232 autosomal dominant brachyolmia 'autosomal dominant brachyolmia' SubClassOf 'TRPV4-related bone disorder' 'autosomal dominant brachyolmia' SubClassOf 'brachyolmia' 'autosomal dominant brachyolmia' SubClassOf 'autosomal dominant disease' 'autosomal dominant brachyolmia' SubClassOf 'TRPV4-related bone disorder' 'autosomal dominant brachyolmia' SubClassOf 'brachyolmia' 'autosomal dominant brachyolmia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0010881 mesomelia-synostoses syndrome 'mesomelia-synostoses syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport 'inborn disorder of amino acid absorption and transport' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of amino acid absorption and transport' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0020214 posterior corneal dystrophy 'posterior corneal dystrophy' SubClassOf 'corneal dystrophy' 'posterior corneal dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0019212 disseminated superficial actinic porokeratosis 'disseminated superficial actinic porokeratosis' SubClassOf 'porokeratosis' 'disseminated superficial actinic porokeratosis' SubClassOf 'porokeratosis' http://purl.obolibrary.org/obo/MONDO_0007244 Caffey disease 'Caffey disease' SubClassOf 'neonatal osteosclerotic dysplasia' 'Caffey disease' SubClassOf 'genetic disorder' 'Caffey disease' SubClassOf 'hyperostosis' 'Caffey disease' SubClassOf 'neonatal osteosclerotic dysplasia' 'Caffey disease' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0010890 acrocardiofacial syndrome 'acrocardiofacial syndrome' SubClassOf 'syndromic intellectual disability' 'acrocardiofacial syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020204 conjunctival tumor 'conjunctival tumor' SubClassOf 'eye neoplasm' 'conjunctival tumor' SubClassOf 'eye neoplasm' http://purl.obolibrary.org/obo/MONDO_0010896 pigment dispersion syndrome 'pigment dispersion syndrome' SubClassOf 'eye disease' 'pigment dispersion syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer 'breast cancer' SubClassOf 'thoracic cancer' 'breast cancer' SubClassOf 'breast neoplasm' 'breast cancer' SubClassOf 'thoracic cancer' 'breast cancer' SubClassOf 'breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0007251 campomelic dysplasia 'campomelic dysplasia' SubClassOf 'bent bone dysplasia' 'campomelic dysplasia' SubClassOf 'bent bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019249 mucopolysaccharidosis 'mucopolysaccharidosis' SubClassOf 'lysosomal storage disease' 'mucopolysaccharidosis' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder 'lysosomal lipid storage disorder' SubClassOf 'lysosomal storage disease' 'lysosomal lipid storage disorder' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0019241 inborn disorder of the gamma-glutamyl cycle 'inborn disorder of the gamma-glutamyl cycle' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of the gamma-glutamyl cycle' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019260 adult neuronal ceroid lipofuscinosis 'adult neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'adult neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_2673 Neurofaciodigitorenal syndrome 'Neurofaciodigitorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Neurofaciodigitorenal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neurofaciodigitorenal syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Neurofaciodigitorenal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019262 juvenile neuronal ceroid lipofuscinosis 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0019261 infantile neuronal ceroid lipofuscinosis 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_276525 Familial hyperinsulinism 'Familial hyperinsulinism' SubClassOf 'Rare genetic endocrine disease' 'Familial hyperinsulinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0011064 recessive spherocytosis 'recessive spherocytosis' SubClassOf 'Hereditary spherocytosis' 'recessive spherocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.orpha.net/ORDO/Orphanet_2679 Infantile axonal neuropathy 'Infantile axonal neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Infantile axonal neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2676 Neuroectodermal-endocrine syndrome 'Neuroectodermal-endocrine syndrome' SubClassOf 'Genetic polyendocrinopathy' 'Neuroectodermal-endocrine syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neuroectodermal-endocrine syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Neuroectodermal-endocrine syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020250 autosomal dominant optic atrophy 'autosomal dominant optic atrophy' SubClassOf 'autosomal dominant disease' 'autosomal dominant optic atrophy' SubClassOf 'hereditary optic neuropathy' 'autosomal dominant optic atrophy' SubClassOf 'hereditary optic atrophy' 'autosomal dominant optic atrophy' SubClassOf 'autosomal dominant disease' 'autosomal dominant optic atrophy' SubClassOf 'hereditary optic atrophy' 'autosomal dominant optic atrophy' SubClassOf 'hereditary optic neuropathy' http://www.orpha.net/ORDO/Orphanet_178145 Moderate multiminicore disease with hand involvement 'Moderate multiminicore disease with hand involvement' SubClassOf 'Multiminicore myopathy' 'Moderate multiminicore disease with hand involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'Multiminicore myopathy' 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019272 hereditary palmoplantar keratoderma 'hereditary palmoplantar keratoderma' SubClassOf 'palmoplantar keratosis' 'hereditary palmoplantar keratoderma' SubClassOf 'palmoplantar keratosis' http://www.orpha.net/ORDO/Orphanet_2680 Hypomyelination neuropathy - arthrogryposis 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'Arthrogryposis multiplex congenita' 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy 'genetic macular dystrophy' SubClassOf 'inherited retinal dystrophy' 'genetic macular dystrophy' SubClassOf 'inherited retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_2686 Cyclic neutropenia 'Cyclic neutropenia' SubClassOf 'Constitutional neutropenia' 'Cyclic neutropenia' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0007293 leukocyte adhesion deficiency 1 'leukocyte adhesion deficiency 1' SubClassOf 'leukocyte adhesion deficiency' 'leukocyte adhesion deficiency 1' SubClassOf 'leukocyte adhesion deficiency' http://purl.obolibrary.org/obo/MONDO_0020248 vitreoretinal degeneration 'vitreoretinal degeneration' SubClassOf 'vitreous syneresis' 'vitreoretinal degeneration' SubClassOf 'vitreous syneresis' http://www.orpha.net/ORDO/Orphanet_2699 Median nodule of the upper lip 'Median nodule of the upper lip' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Median nodule of the upper lip' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2697 Arthrogryposis - renal dysfunction - cholestasis 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Syndromic renal or urinary tract malformation' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Genetic renal or urinary tract malformation' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://purl.obolibrary.org/obo/MONDO_0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive 'otospondylomegaepiphyseal dysplasia, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800087 http://purl.obolibrary.org/obo/MONDO_0019276 inherited epidermolysis bullosa 'inherited epidermolysis bullosa' SubClassOf 'epidermolysis bullosa' 'inherited epidermolysis bullosa' SubClassOf 'epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease 'skin vascular disease' SubClassOf 'skin disease' 'skin vascular disease' SubClassOf 'vascular disease' 'skin vascular disease' SubClassOf 'skin disease' 'skin vascular disease' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0044211 idiopathic urticaria 'idiopathic urticaria' SubClassOf 'urticaria' 'idiopathic urticaria' SubClassOf 'urticaria' http://purl.obolibrary.org/obo/MONDO_0020290 atrioventricular septal defect 'atrioventricular septal defect' SubClassOf 'heart septal defect' 'atrioventricular septal defect' SubClassOf 'heart septal defect' http://www.orpha.net/ORDO/Orphanet_2637 Microcephalic osteodysplastic primordial dwarfism type II 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'Syndromic obesity' 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2636 Microcephalic osteodysplastic primordial dwarfism types I and III 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166119 Isolated osteopoikilosis 'Isolated osteopoikilosis' SubClassOf 'Osteopetrosis' 'Isolated osteopoikilosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2635 Metatropic dysplasia 'Metatropic dysplasia' SubClassOf 'TRPV4-related bone disorder' 'Metatropic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Metatropic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2633 Mesomelic dwarfism, Nievergelt type 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dwarfism, Nievergelt type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_34515 Autosomal recessive limb-girdle muscular dystrophy type 2I 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_34514 Autosomal recessive limb-girdle muscular dystrophy type 2G 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'Qualitative or quantitative defects of telethonin' 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2631 Mesomelic dwarfism - cleft palate - camptodactyly 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Orofacial clefting syndrome' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Primary bone dysplasia' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_166100 Stickler syndrome type 3 'Stickler syndrome type 3' SubClassOf 'Type 11 collagen-related bone disorder' 'Stickler syndrome type 3' SubClassOf 'Orofacial clefting syndrome' 'Stickler syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Stickler syndrome type 3' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_2646 Parastremmatic dwarfism 'Parastremmatic dwarfism' SubClassOf 'Bent bone dysplasia' 'Parastremmatic dwarfism' SubClassOf 'TRPV4-related bone disorder' 'Parastremmatic dwarfism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2645 Osteoglophonic dwarfism 'Osteoglophonic dwarfism' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Osteoglophonic dwarfism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2643 Microcephalic primordial dwarfism, Toriello type 'Microcephalic primordial dwarfism, Toriello type' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic primordial dwarfism, Toriello type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2641 Micromelic dwarfism, Fryns type 'Micromelic dwarfism, Fryns type' SubClassOf 'Spondylometaphyseal dysplasia' 'Micromelic dwarfism, Fryns type' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2650 Dwarfism - intellectual disability - eye abnormality 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_34533 Corneal dystrophy 'Corneal dystrophy' SubClassOf 'Rare genetic eye disease' 'Corneal dystrophy' SubClassOf 'corneal disease' 'Corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2655 Thanatophoric dysplasia 'Thanatophoric dysplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'Thanatophoric dysplasia' SubClassOf 'Primary bone dysplasia with micromelia' 'Thanatophoric dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168796 Heart-hand syndrome, Slovenian type 'Heart-hand syndrome, Slovenian type' SubClassOf 'Heart-hand syndrome' 'Heart-hand syndrome, Slovenian type' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Heart-hand syndrome, Slovenian type' SubClassOf 'Genetic cardiac rhythm disease' 'Heart-hand syndrome, Slovenian type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2653 Osteochondrodysplatic nanism - deafness - retinitis pigmentosa 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_34528 Autosomal dominant primary hypomagnesemia with hypocalciuria 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'Familial primary hypomagnesemia with hypocalcuria' 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'inborn errors of metabolism' 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia 'Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' 'Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2649 Short stature - intellectual disability - eye anomalies - cleft lip/palate 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'Orofacial clefting syndrome' 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_168782 Childhood disintegrative disorder 'Childhood disintegrative disorder' SubClassOf 'Rare pervasive developmental disorder' 'Childhood disintegrative disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2669 Nephrosis - deafness - urinary tract - digital malformations 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic urogenital tract malformation' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic renal or urinary tract malformation' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Genetic urogenital tract malformation' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'Qualitative or quantitative defects of integrin alpha-7' 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_2666 Adult familial nephronophthisis - spastic quadriparesia 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'Familial cystic renal disease' 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'kidney disease' 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'Rare genetic renal disease' 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'has_disease_location' some 'kidney' http://www.orpha.net/ORDO/Orphanet_34526 Familial primary hypomagnesemia 'Familial primary hypomagnesemia' SubClassOf 'Genetic renal tubular disease' 'Familial primary hypomagnesemia' SubClassOf 'Disorder of magnesium transport' 'Familial primary hypomagnesemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2604 Familial visceral myopathy 'Familial visceral myopathy' SubClassOf 'Congenital intestinal motility disorder' 'Familial visceral myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2601 Myopathy - growth delay - intellectual disability - hypospadias 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2614 Nail-patella syndrome 'Nail-patella syndrome' SubClassOf 'Patellar dysostosis' 'Nail-patella syndrome' SubClassOf 'Primary glomerular disease' 'Nail-patella syndrome' SubClassOf 'Onycho-patellar syndrome with eye involvement' 'Nail-patella syndrome' SubClassOf 'Syndromic nail anomaly' 'Nail-patella syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2613 Nail-patella-like renal disease 'Nail-patella-like renal disease' SubClassOf 'Primary glomerular disease' 'Nail-patella-like renal disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2623 Geleophysic dysplasia 'Geleophysic dysplasia' SubClassOf 'Acromelic dysplasia' 'Geleophysic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2619 Brachydactylous dwarfism, Mseleni type 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Brachydactylous dwarfism, Mseleni type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2617 Bird headed-dwarfism, Montreal type 'Bird headed-dwarfism, Montreal type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bird headed-dwarfism, Montreal type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Bird headed-dwarfism, Montreal type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2616 3M syndrome '3M syndrome' SubClassOf 'Slender bone dysplasia' '3M syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '3M syndrome' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_97927 Peripheral resistance to thyroid hormones 'Peripheral resistance to thyroid hormones' SubClassOf 'Peripheral hypothyroidism' 'Peripheral resistance to thyroid hormones' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_46348 Paroxysmal extreme pain disorder 'Paroxysmal extreme pain disorder' SubClassOf 'Rare genetic neurological disorder' 'Paroxysmal extreme pain disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156607 Genetic biliary tract disease 'Genetic biliary tract disease' SubClassOf 'Rare genetic hepatic disease' 'Genetic biliary tract disease' SubClassOf 'genetic biliary tract disease' 'Genetic biliary tract disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97945 Intestinal malformation 'Intestinal malformation' SubClassOf 'Genetic digestive tract malformation' 'Intestinal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97944 Gastroduodenal malformation 'Gastroduodenal malformation' SubClassOf 'Genetic digestive tract malformation' 'Gastroduodenal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156604 Genetic parenchymatous liver disease 'Genetic parenchymatous liver disease' SubClassOf 'Rare genetic hepatic disease' 'Genetic parenchymatous liver disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276435 Lower motor neuron syndrome with late-adult onset 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' 'Lower motor neuron syndrome with late-adult onset' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_264450 Trisomy 8p 'Trisomy 8p' SubClassOf 'Partial duplication of the short arm of chromosome 8' 'Trisomy 8p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010702 orofaciodigital syndrome I 'orofaciodigital syndrome I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://www.ebi.ac.uk/efo/EFO_0001645 coronary artery disease 'coronary artery disease' SubClassOf 'arterial disorder' 'coronary artery disease' SubClassOf 'heart disease' 'coronary artery disease' SubClassOf 'arterial disorder' 'coronary artery disease' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0009727 atelosteogenesis type II 'atelosteogenesis type II' SubClassOf 'sulfation-related bone disorder' 'atelosteogenesis type II' SubClassOf 'syndromic intellectual disability' 'atelosteogenesis type II' SubClassOf 'atelosteogenesis' 'atelosteogenesis type II' SubClassOf 'sulfation-related bone disorder' 'atelosteogenesis type II' SubClassOf 'syndromic intellectual disability' 'atelosteogenesis type II' SubClassOf 'developmental anomaly of metabolic origin' 'atelosteogenesis type II' SubClassOf 'atelosteogenesis' http://purl.obolibrary.org/obo/MONDO_0010714 Pelizaeus-Merzbacher disease 'Pelizaeus-Merzbacher disease' SubClassOf 'leukodystrophy' 'Pelizaeus-Merzbacher disease' SubClassOf 'leukodystrophy' http://www.orpha.net/ORDO/Orphanet_264431 Partial duplication of the short arm of chromosome 1 'Partial duplication of the short arm of chromosome 1' SubClassOf 'Partial duplication of chromosome 1' 'Partial duplication of the short arm of chromosome 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 'sialidosis type 2' SubClassOf 'sialidosis' 'sialidosis type 2' SubClassOf 'bone disease' 'sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 'sialidosis type 2' SubClassOf 'sialidosis' http://purl.obolibrary.org/obo/MONDO_0009737 galactosialidosis 'galactosialidosis' SubClassOf 'bone disease' 'galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0009732 congenital nephrotic syndrome, Finnish type 'congenital nephrotic syndrome, Finnish type' SubClassOf 'familial nephrotic syndrome' 'congenital nephrotic syndrome, Finnish type' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome 'Rett syndrome' SubClassOf 'motor stereotypies' 'Rett syndrome' SubClassOf 'motor stereotypies' http://purl.obolibrary.org/obo/MONDO_0010725 X-linked retinoschisis 'X-linked retinoschisis' SubClassOf 'retinoschisis' 'X-linked retinoschisis' SubClassOf 'retinoschisis' http://www.ebi.ac.uk/efo/EFO_0001666 aortic aneurysm 'aortic aneurysm' SubClassOf 'aortic disease' 'aortic aneurysm' SubClassOf 'aortic disease' http://purl.obolibrary.org/obo/MONDO_0010720 partial androgen insensitivity syndrome 'partial androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' 'partial androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0009740 neurofaciodigitorenal syndrome 'neurofaciodigitorenal syndrome' SubClassOf 'syndromic intellectual disability' 'neurofaciodigitorenal syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome 'Simpson-Golabi-Behmel syndrome' SubClassOf 'syndromic disease' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A 'Niemann-Pick disease type A' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100464 http://purl.obolibrary.org/obo/MONDO_0007109 congenital dyserythropoietic anemia type 3 'congenital dyserythropoietic anemia type 3' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 3' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0009769 oculo-palato-cerebral syndrome 'oculo-palato-cerebral syndrome' SubClassOf 'syndromic intellectual disability' 'oculo-palato-cerebral syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 'frontotemporal dementia and/or amyotrophic lateral sclerosis 1' SubClassOf 'frontotemporal dementia with motor neuron disease' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 1' SubClassOf 'frontotemporal dementia with motor neuron disease' http://www.orpha.net/ORDO/Orphanet_2596 Myopathy and diabetes mellitus 'Myopathy and diabetes mellitus' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Myopathy and diabetes mellitus' SubClassOf 'Muscular lipidosis' 'Myopathy and diabetes mellitus' SubClassOf 'Rare genetic diabetes mellitus' 'Myopathy and diabetes mellitus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2593 Tubular aggregate myopathy 'Tubular aggregate myopathy' SubClassOf 'Congenital myopathy' 'Tubular aggregate myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2591 Infantile myofibromatosis 'Infantile myofibromatosis' SubClassOf 'Genetic soft tissue tumor' 'Infantile myofibromatosis' SubClassOf 'benign neoplasm' 'Infantile myofibromatosis' SubClassOf 'Soft Tissue Neoplasm' 'Infantile myofibromatosis' SubClassOf 'Genetic skin tumor' 'Infantile myofibromatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007116 hereditary neurocutaneous angioma 'hereditary neurocutaneous angioma' SubClassOf 'vascular neoplasm' 'hereditary neurocutaneous angioma' SubClassOf 'vascular neoplasm' http://www.orpha.net/ORDO/Orphanet_166073 Pontocerebellar hypoplasia type 6 'Pontocerebellar hypoplasia type 6' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Pontocerebellar hypoplasia type 6' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007114 angel-shaped phalango-epiphyseal dysplasia 'angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'acromelic dysplasia' 'angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009777 Oliver syndrome 'Oliver syndrome' SubClassOf 'syndromic intellectual disability' 'Oliver syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010765 46,XY complete gonadal dysgenesis '46,XY complete gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '46,XY complete gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0009771 oculotrichodysplasia 'oculotrichodysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'oculotrichodysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009780 lethal omphalocele-cleft palate syndrome 'lethal omphalocele-cleft palate syndrome' SubClassOf 'syndromic intellectual disability' 'lethal omphalocele-cleft palate syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_166063 Pontocerebellar hypoplasia type 4 'Pontocerebellar hypoplasia type 4' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009787 3-methylglutaconic aciduria type 3 '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800090 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009785 opsismodysplasia 'opsismodysplasia' SubClassOf 'genetic disorder' 'opsismodysplasia' SubClassOf 'spondylodysplastic dysplasia' 'opsismodysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800080 http://www.orpha.net/ORDO/Orphanet_166068 Pontocerebellar hypoplasia type 5 'Pontocerebellar hypoplasia type 5' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019101 retinal capillary malformation 'retinal capillary malformation' SubClassOf 'vascular neoplasm' 'retinal capillary malformation' SubClassOf 'vascular neoplasm' http://www.orpha.net/ORDO/Orphanet_166093 Von Willebrand disease type 2N 'Von Willebrand disease type 2N' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2N' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010788 Leber hereditary optic neuropathy 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic atrophy' 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0007134 Cooks syndrome 'Cooks syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800093 http://purl.obolibrary.org/obo/MONDO_0009795 orofaciodigital syndrome IX 'orofaciodigital syndrome IX' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome IX' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009794 orofaciodigital syndrome IV 'orofaciodigital syndrome IV' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome IV' SubClassOf 'short rib dysplasia' 'orofaciodigital syndrome IV' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome IV' SubClassOf 'short rib dysplasia' http://purl.obolibrary.org/obo/MONDO_0009793 orofaciodigital syndrome III 'orofaciodigital syndrome III' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome III' SubClassOf 'orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_178040 Peripheral precocious puberty 'Peripheral precocious puberty' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Peripheral precocious puberty' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010785 maternally-inherited diabetes and deafness 'maternally-inherited diabetes and deafness' SubClassOf 'diabetes mellitus' 'maternally-inherited diabetes and deafness' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_166090 Von Willebrand disease type 2M 'Von Willebrand disease type 2M' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2M' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019113 benign paroxysmal torticollis of infancy 'benign paroxysmal torticollis of infancy' SubClassOf 'paroxysmal dystonia' 'benign paroxysmal torticollis of infancy' SubClassOf 'paroxysmal dystonia' http://purl.obolibrary.org/obo/MONDO_0019111 familial thrombocytosis 'familial thrombocytosis' SubClassOf 'thrombocytosis disease' 'familial thrombocytosis' SubClassOf 'thrombocytosis disease' http://www.orpha.net/ORDO/Orphanet_166087 Von Willebrand disease type 2B 'Von Willebrand disease type 2B' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166084 Von Willebrand disease type 2A 'Von Willebrand disease type 2A' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome 'aortic arch anomaly-facial dysmorphism-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'aortic arch anomaly-facial dysmorphism-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010797 Pearson syndrome 'Pearson syndrome' SubClassOf 'syndromic disease' 'Pearson syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_166032 Multiple epiphyseal dysplasia, with miniepiphyses 'Multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2551 Microspherophakia - metaphyseal dysplasia 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'Lens size anomaly' 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'Genetic lens and zonula anomaly' http://purl.obolibrary.org/obo/MONDO_0019141 porokeratosis of Mibelli 'porokeratosis of Mibelli' SubClassOf 'porokeratosis' 'porokeratosis of Mibelli' SubClassOf 'porokeratosis' http://www.orpha.net/ORDO/Orphanet_276405 Hyperbiliverdinemia 'Hyperbiliverdinemia' SubClassOf 'Rare genetic hepatic disease' 'Hyperbiliverdinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007154 arteriovenous malformations of the brain 'arteriovenous malformations of the brain' SubClassOf 'arteriovenous hemangioma/malformation' 'arteriovenous malformations of the brain' SubClassOf 'arteriovenous hemangioma/malformation' http://www.orpha.net/ORDO/Orphanet_2556 Microphthalmia with linear skin defects syndrome 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic anorectal malformation' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Genetic digestive tract malformation' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'anophthalmia-microphthalmia syndrome' http://www.orpha.net/ORDO/Orphanet_166035 Metaphyseal chondrodysplasia - retinitis pigmentosa 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0007152 arrhythmogenic right ventricular dysplasia 1 'arrhythmogenic right ventricular dysplasia 1' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 1' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://www.orpha.net/ORDO/Orphanet_166038 Metaphyseal chondrodysplasia, Kaitila type 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2554 Ear-patella-short stature syndrome 'Ear-patella-short stature syndrome' SubClassOf 'Patellar dysostosis' 'Ear-patella-short stature syndrome' SubClassOf 'Microcephalic primordial dwarfism' 'Ear-patella-short stature syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Ear-patella-short stature syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Ear-patella-short stature syndrome' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0007160 Stickler syndrome type 1 'Stickler syndrome type 1' SubClassOf 'hereditary disorder of connective tissue' 'Stickler syndrome type 1' SubClassOf 'type 2 collagenopathy' 'Stickler syndrome type 1' SubClassOf 'type 2 collagenopathy' http://www.orpha.net/ORDO/Orphanet_178025 Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' SubClassOf 'Non-acquired combined pituitary hormone deficiency' 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' SubClassOf 'Rare genetic hypothalamic or pituitary disease' http://purl.obolibrary.org/obo/MONDO_0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome 'visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' 'visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019152 Oguchi disease 'Oguchi disease' SubClassOf 'inherited retinal dystrophy' 'Oguchi disease' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0019151 oligocone trichromacy 'oligocone trichromacy' SubClassOf 'inherited retinal dystrophy' 'oligocone trichromacy' SubClassOf 'inherited retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia 'Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007167 atelosteogenesis type I 'atelosteogenesis type I' SubClassOf 'filamin-related bone disorder' 'atelosteogenesis type I' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0007168 atelosteogenesis type III 'atelosteogenesis type III' SubClassOf 'syndromic intellectual disability' 'atelosteogenesis type III' SubClassOf 'filamin-related bone disorder' 'atelosteogenesis type III' SubClassOf 'syndromic intellectual disability' 'atelosteogenesis type III' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0020121 muscular dystrophy 'muscular dystrophy' SubClassOf 'myopathy' 'muscular dystrophy' SubClassOf 'skeletal muscle disorder' 'muscular dystrophy' SubClassOf 'myopathy' 'muscular dystrophy' SubClassOf 'skeletal muscle disorder' http://www.orpha.net/ORDO/Orphanet_166024 Multiple epiphyseal dysplasia, Al-Gazali type 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 'episodic ataxia type 2' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 2' SubClassOf 'hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_2564 Tetramelic monodactyly 'Tetramelic monodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Tetramelic monodactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019149 cholesteryl ester storage disease 'cholesteryl ester storage disease' SubClassOf 'lysosomal acid lipase deficiency' 'cholesteryl ester storage disease' SubClassOf 'lysosomal acid lipase deficiency' http://purl.obolibrary.org/obo/MONDO_0019148 Wolman disease 'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency' 'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency' http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency 'hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'inborn errors of metabolism' 'hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'inherited thrombophilia' 'hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 'pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism' 'pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism' http://www.orpha.net/ORDO/Orphanet_2572 Spastic ataxia - corneal dystrophy 'Spastic ataxia - corneal dystrophy' SubClassOf 'Syndromic corneal dystrophy' 'Spastic ataxia - corneal dystrophy' SubClassOf 'Autosomal recessive spastic ataxia' 'Spastic ataxia - corneal dystrophy' SubClassOf 'Rare hereditary ataxia' 'Spastic ataxia - corneal dystrophy' SubClassOf 'corneal disease' 'Spastic ataxia - corneal dystrophy' SubClassOf 'Rare genetic eye disease' http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 'pseudohypoaldosteronism type 2' SubClassOf 'pseudohypoaldosteronism' 'pseudohypoaldosteronism type 2' SubClassOf 'pseudohypoaldosteronism' http://www.orpha.net/ORDO/Orphanet_2579 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Syndromic retinitis pigmentosa' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_2578 MURCS association 'MURCS association' SubClassOf 'Syndromic anorectal malformation' 'MURCS association' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_2576 MULIBREY nanism 'MULIBREY nanism' SubClassOf 'Genetic malformation syndrome with short stature' 'MULIBREY nanism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2575 Cystic fibrosis - gastritis - megaloblastic anemia 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'Genetic gastro-esophageal disease' 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'esophageal disease' 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'has_disease_location' some 'esophagus' 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'Rare genetic gastroenterological disease' http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion 'congenital entropion' SubClassOf 'entropion' 'congenital entropion' SubClassOf 'entropion' http://purl.obolibrary.org/obo/MONDO_0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome 'brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf 'syndromic intellectual disability' 'brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019172 aniridia 'aniridia' SubClassOf 'iris disorder' 'aniridia' SubClassOf 'iris disorder' http://purl.obolibrary.org/obo/MONDO_0007187 nevoid basal cell carcinoma syndrome 'nevoid basal cell carcinoma syndrome' SubClassOf 'hereditary neoplastic syndrome' 'nevoid basal cell carcinoma syndrome' SubClassOf 'autosomal dominant disease' 'nevoid basal cell carcinoma syndrome' SubClassOf 'hereditary neoplastic syndrome' 'nevoid basal cell carcinoma syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0020143 cerebral lipidosis with dementia 'cerebral lipidosis with dementia' SubClassOf 'lysosomal lipid storage disorder' 'cerebral lipidosis with dementia' SubClassOf 'brain disease' 'cerebral lipidosis with dementia' SubClassOf 'lysosomal lipid storage disorder' 'cerebral lipidosis with dementia' SubClassOf 'brain disease' http://www.orpha.net/ORDO/Orphanet_2587 Myeloperoxidase deficiency 'Myeloperoxidase deficiency' SubClassOf 'Functional neutrophil defect' 'Myeloperoxidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve 'familial bicuspid aortic valve' SubClassOf 'aortic valve disease' 'familial bicuspid aortic valve' SubClassOf 'aortic valve disease' http://purl.obolibrary.org/obo/MONDO_0019165 central precocious puberty 'central precocious puberty' SubClassOf 'precocious puberty' 'central precocious puberty' SubClassOf 'precocious puberty' http://purl.obolibrary.org/obo/MONDO_0020172 palpebral epidermal tumor 'palpebral epidermal tumor' SubClassOf 'eyelid neoplasm' 'palpebral epidermal tumor' SubClassOf 'eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia 'hereditary hemorrhagic telangiectasia' SubClassOf 'capillary malformation' 'hereditary hemorrhagic telangiectasia' SubClassOf 'capillary malformation' http://www.orpha.net/ORDO/Orphanet_2516 Microcephaly - cardiac defect - lung malsegmentation 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0020179 palpebral nevus 'palpebral nevus' SubClassOf 'melanocytic nevus' 'palpebral nevus' SubClassOf 'melanocytic nevus' http://www.orpha.net/ORDO/Orphanet_2515 Microcephaly - cardiomyopathy 'Microcephaly - cardiomyopathy' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2514 Autosomal dominant microcephaly 'Autosomal dominant microcephaly' SubClassOf 'Isolated congenital microcephaly' 'Autosomal dominant microcephaly' SubClassOf 'Genetic cerebral malformation' http://www.orpha.net/ORDO/Orphanet_2513 Microcephaly - albinism - digital anomalies 'Microcephaly - albinism - digital anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Microcephaly - albinism - digital anomalies' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2512 Autosomal recessive primary microcephaly 'Autosomal recessive primary microcephaly' SubClassOf 'neuro-ophthalmological disease' 'Autosomal recessive primary microcephaly' SubClassOf 'Isolated congenital microcephaly' 'Autosomal recessive primary microcephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020175 malignant tumor of palpebral epidermis 'malignant tumor of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' 'malignant tumor of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' http://www.orpha.net/ORDO/Orphanet_2511 Microbrachycephaly - ptosis - cleft lip 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'Orofacial clefting syndrome' 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2510 Micro syndrome 'Micro syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Micro syndrome' SubClassOf 'Syndromic microphthalmia' 'Micro syndrome' SubClassOf 'anophthalmia-microphthalmia syndrome' http://purl.obolibrary.org/obo/MONDO_0007197 bladder diverticulum 'bladder diverticulum' SubClassOf 'bladder disease' 'bladder diverticulum' SubClassOf 'bladder disease' http://purl.obolibrary.org/obo/MONDO_0020161 congenital ectropion 'congenital ectropion' SubClassOf 'ectropion' 'congenital ectropion' SubClassOf 'ectropion' http://www.orpha.net/ORDO/Orphanet_308013 Focal acral hyperkeratosis 'Focal acral hyperkeratosis' SubClassOf 'Marginal papular palmoplantar keratoderma' 'Focal acral hyperkeratosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019191 IgG4-related dacryoadenitis and sialadenitis 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'lacrimal apparatus disease' 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'lacrimal apparatus disease' http://www.orpha.net/ORDO/Orphanet_2524 Pontocerebellar hypoplasia type 2 'Pontocerebellar hypoplasia type 2' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 2' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Pontocerebellar hypoplasia type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2522 Microcephaly - cervical spine fusion anomalies 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2521 Microcephaly - cleft palate 'Microcephaly - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Microcephaly - cleft palate' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - cleft palate' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2519 Microcephaly - seizures - intellectual disability - heart disease 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0019187 Axenfeld-Rieger syndrome 'Axenfeld-Rieger syndrome' SubClassOf 'neurocristopathy' 'Axenfeld-Rieger syndrome' SubClassOf 'neurocristopathy' http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic intellectual disability' 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_166011 Multiple epiphyseal dysplasia, Beighton type 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'Type 2 collagen-related bone disorder' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2533 Microcephaly - deafness - intellectual disability 'Microcephaly - deafness - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - deafness - intellectual disability' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_166016 Multiple epiphyseal dysplasia, Lowry type 'Multiple epiphyseal dysplasia, Lowry type' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, Lowry type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2528 Microcephaly-microcornea syndrome, Seemanova type 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Genetic developmental defect of the eye' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2549 Oculoauriculovertebral spectrum with radial defects 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2543 Microphthalmia - cataract 'Microphthalmia - cataract' SubClassOf 'Non-syndromic developmental defect of the eye' 'Microphthalmia - cataract' SubClassOf 'Syndromic cataract' 'Microphthalmia - cataract' SubClassOf 'Rare cataract' 'Microphthalmia - cataract' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2542 Isolated anophthalmia - microphthalmia 'Isolated anophthalmia - microphthalmia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated anophthalmia - microphthalmia' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_156629 Genetic hypertension 'Genetic hypertension' SubClassOf 'Rare genetic renal disease' 'Genetic hypertension' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168606 Seborrhea-like dermatitis with psoriasiform elements 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'Genetic epidermal disorder' 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168601 Congenital enteropathy due to enteropeptidase deficiency 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168632 Generalized basaloid follicular hamartoma syndrome 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'Genetic skin tumor' 'Generalized basaloid follicular hamartoma syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168629 Autosomal thrombocytopenia with normal platelets 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'Hereditary thrombocytopenia with normal platelets' 'Autosomal thrombocytopenia with normal platelets' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2505 Multiple benign circumferential skin creases on limbs 'Multiple benign circumferential skin creases on limbs' SubClassOf 'Unclassified genetic skin disorder' 'Multiple benign circumferential skin creases on limbs' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2504 Metaphyseal dysplasia - maxillary hypoplasia - brachydacty 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_168624 Familial scaphocephaly syndrome, McGillivray type 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'Syndromic craniosynostosis' 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2502 Metaphyseal dysostosis - intellectual disability - conductive deafness 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2501 Metaphyseal chondrodysplasia, Spahr type 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2500 Acrogeria 'Acrogeria' SubClassOf 'premature aging syndrome' 'Acrogeria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168621 Dysplasia of head of femur, Meyer type 'Dysplasia of head of femur, Meyer type' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Dysplasia of head of femur, Meyer type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001312 Endometritis 'Endometritis' SubClassOf 'endometrial disorder' 'Endometritis' SubClassOf 'endometrial disorder' http://www.orpha.net/ORDO/Orphanet_83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Rare thrombotic disorder due to a constitutional coagulation factors defect' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001316 Eosinophilia-Myalgia Syndrome 'Eosinophilia-Myalgia Syndrome' SubClassOf 'Hypereosinophilic syndrome' 'Eosinophilia-Myalgia Syndrome' SubClassOf 'Hypereosinophilic syndrome' http://www.ebi.ac.uk/efo/EFO_1001324 Fascioliasis 'Fascioliasis' SubClassOf 'Helminthiasis' 'Fascioliasis' SubClassOf 'Helminthiasis' http://www.orpha.net/ORDO/Orphanet_2801 Juvenile Paget disease 'Juvenile Paget disease' SubClassOf 'Primary bone dysplasia with increased bone density' 'Juvenile Paget disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001320 Exanthema Subitum 'Exanthema Subitum' SubClassOf 'viral disease' 'Exanthema Subitum' SubClassOf 'exanthem' 'Exanthema Subitum' SubClassOf 'viral disease' 'Exanthema Subitum' SubClassOf 'exanthem' http://www.orpha.net/ORDO/Orphanet_83628 PELVIS syndrome 'PELVIS syndrome' SubClassOf 'Syndromic anorectal malformation' 'PELVIS syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PELVIS syndrome' SubClassOf 'Unclassified genetic skin disorder' 'PELVIS syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_83620 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'Genetic intestinal disease' http://www.orpha.net/ORDO/Orphanet_313892 Developmental and speech delay due to SOX5 deficiency 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Developmental and speech delay due to SOX5 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001333 Glycogen Storage Disease Type 2b 'Glycogen Storage Disease Type 2b' SubClassOf 'glycogen storage disease' 'Glycogen Storage Disease Type 2b' SubClassOf 'glycogen storage disease' http://www.ebi.ac.uk/efo/EFO_1001330 Foster-Kennedy syndrome 'Foster-Kennedy syndrome' SubClassOf 'papilledema' 'Foster-Kennedy syndrome' SubClassOf 'papilledema' http://www.orpha.net/ORDO/Orphanet_2809 Familial recurrent peripheral facial palsy 'Familial recurrent peripheral facial palsy' SubClassOf 'palsy' 'Familial recurrent peripheral facial palsy' SubClassOf 'Genetic peripheral neuropathy' 'Familial recurrent peripheral facial palsy' SubClassOf 'genetic nervous system disorder' 'Familial recurrent peripheral facial palsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_83617 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Syndromic agammaglobulinemia' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'inborn errors of immunity' http://www.orpha.net/ORDO/Orphanet_83619 Macrostomia - preauricular tags - external ophthalmoplegia 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2805 Partial pancreatic agenesis 'Partial pancreatic agenesis' SubClassOf 'Non-syndromic visceral malformation' 'Partial pancreatic agenesis' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' http://www.orpha.net/ORDO/Orphanet_2804 W syndrome 'W syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'W syndrome' SubClassOf 'Epilepsy syndrome' 'W syndrome' SubClassOf 'Orofacial clefting syndrome' 'W syndrome' SubClassOf 'Rare genetic epilepsy' 'W syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2824 Paraplegia - intellectual disability - hyperkeratosis 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_1001346 Hepatopulmonary Syndrome 'Hepatopulmonary Syndrome' SubClassOf 'liver disease' 'Hepatopulmonary Syndrome' SubClassOf 'liver disease' http://www.ebi.ac.uk/efo/EFO_1001345 Hepatitis, Alcoholic 'Hepatitis, Alcoholic' SubClassOf 'alcoholic liver disease' 'Hepatitis, Alcoholic' SubClassOf 'alcoholic liver disease' http://www.orpha.net/ORDO/Orphanet_2822 Autosomal recessive spastic paraplegia type 11 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1001344 Hemarthrosis 'Hemarthrosis' SubClassOf 'joint disease' 'Hemarthrosis' SubClassOf 'joint disease' http://www.orpha.net/ORDO/Orphanet_2821 Spastic paraplegia - neuropathy - poikiloderma 'Spastic paraplegia - neuropathy - poikiloderma' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - neuropathy - poikiloderma' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_2820 Spastic paraplegia - nephritis - deafness 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Syndromic renal or urinary tract malformation' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Genetic neurodegenerative disease' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Genetic renal or urinary tract malformation' http://www.ebi.ac.uk/efo/EFO_1001342 Helminthiasis 'Helminthiasis' SubClassOf 'parasitic infection' 'Helminthiasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_1001341 Heavy Chain Disease 'Heavy Chain Disease' SubClassOf 'plasma cell neoplasm' 'Heavy Chain Disease' SubClassOf 'plasma cell neoplasm' http://www.orpha.net/ORDO/Orphanet_2819 Spastic paraplegia - facial-cutaneous lesions 'Spastic paraplegia - facial-cutaneous lesions' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - facial-cutaneous lesions' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_2818 Spastic paraplegia - glaucoma - intellectual disability 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_2816 Spastic paraplegia - epilepsy - intellectual disability 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1001362 Lung Abscess 'Lung Abscess' SubClassOf 'lung disease' 'Lung Abscess' SubClassOf 'abscess' 'Lung Abscess' SubClassOf 'lung disease' 'Lung Abscess' SubClassOf 'abscess' http://www.orpha.net/ORDO/Orphanet_313850 Infantile cerebellar-retinal degeneration 'Infantile cerebellar-retinal degeneration' SubClassOf 'Retinal dystrophy' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Neurometabolic disease' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Tricarboxylic acid cycle disorder' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Genetic neurodegenerative disease' 'Infantile cerebellar-retinal degeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001378 neurogenic arthropathy 'neurogenic arthropathy' SubClassOf 'joint disease' 'neurogenic arthropathy' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1001381 Nocturnal Paroxysmal Dystonia 'Nocturnal Paroxysmal Dystonia' SubClassOf 'Paroxysmal dystonia' 'Nocturnal Paroxysmal Dystonia' SubClassOf 'Rare genetic dystonia' 'Nocturnal Paroxysmal Dystonia' SubClassOf 'Rare paroxysmal movement disorder' http://www.ebi.ac.uk/efo/EFO_1001380 Niemann-Pick disease 'Niemann-Pick disease' SubClassOf 'autosomal recessive disease' 'Niemann-Pick disease' SubClassOf 'sphingolipidosis' 'Niemann-Pick disease' SubClassOf 'Sphingolipidosis' 'Niemann-Pick disease' SubClassOf 'autosomal recessive disease' 'Niemann-Pick disease' SubClassOf 'sphingolipidosis' 'Niemann-Pick disease' SubClassOf 'Lipid storage disease' http://www.ebi.ac.uk/efo/EFO_1001389 Peptic ulcer perforation 'Peptic ulcer perforation' SubClassOf 'peptic ulcer disease' 'Peptic ulcer perforation' SubClassOf 'peptic ulcer disease' http://www.ebi.ac.uk/efo/EFO_1001387 Peliosis Hepatis 'Peliosis Hepatis' SubClassOf 'hepatic vascular disorder' 'Peliosis Hepatis' SubClassOf 'hepatic vascular disorder' http://www.orpha.net/ORDO/Orphanet_83642 Microcytic anemia with liver iron overload 'Microcytic anemia with liver iron overload' SubClassOf 'Disorder of iron metabolism and transport' 'Microcytic anemia with liver iron overload' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Microcytic anemia with liver iron overload' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262164 Partial deletion of the long arm of chromosome 20 'Partial deletion of the long arm of chromosome 20' SubClassOf 'Partial deletion of chromosome 20' 'Partial deletion of the long arm of chromosome 20' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262155 Partial deletion of the long arm of chromosome 19 'Partial deletion of the long arm of chromosome 19' SubClassOf 'Partial deletion of chromosome 19' 'Partial deletion of the long arm of chromosome 19' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262146 Partial deletion of the long arm of chromosome 18 'Partial deletion of the long arm of chromosome 18' SubClassOf 'Partial deletion of chromosome 18' 'Partial deletion of the long arm of chromosome 18' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0009609 methylcobalamin deficiency type cblG 'methylcobalamin deficiency type cblG' SubClassOf 'homocystinuria without methylmalonic aciduria' 'methylcobalamin deficiency type cblG' SubClassOf 'homocystinuria without methylmalonic aciduria' http://purl.obolibrary.org/obo/MONDO_0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency '3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'inherited amino acid metabolic disorder' '3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_262128 Partial deletion of the long arm of chromosome 16 'Partial deletion of the long arm of chromosome 16' SubClassOf 'Partial deletion of chromosome 16' 'Partial deletion of the long arm of chromosome 16' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262137 Partial deletion of the long arm of chromosome 17 'Partial deletion of the long arm of chromosome 17' SubClassOf 'Partial deletion of chromosome 17' 'Partial deletion of the long arm of chromosome 17' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009618 microcephaly-cardiomyopathy syndrome 'microcephaly-cardiomyopathy syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-cardiomyopathy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009613 vitamin B12-responsive methylmalonic acidemia type cblA 'vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'vitamin B12-responsive methylmalonic acidemia' 'vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'vitamin B12-responsive methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0009611 3-methylglutaconic aciduria type 4 '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0009610 3-methylglutaconic aciduria type 1 '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0010604 hemophilia B 'hemophilia B' SubClassOf 'hemophilia' 'hemophilia B' SubClassOf 'hemophilia' http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets 'X-linked dominant hypophosphatemic rickets' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800096 http://purl.obolibrary.org/obo/MONDO_0009626 pseudo-TORCH syndrome 'pseudo-TORCH syndrome' SubClassOf 'autosomal recessive disease' 'pseudo-TORCH syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome 'Nijmegen breakage syndrome' SubClassOf 'DNA repair deficiency' 'Nijmegen breakage syndrome' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0009621 microcephaly-cervical spine fusion anomalies syndrome 'microcephaly-cervical spine fusion anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-cervical spine fusion anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009620 Say-Barber-Miller syndrome 'Say-Barber-Miller syndrome' SubClassOf 'syndromic intellectual disability' 'Say-Barber-Miller syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 'male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_262191 Partial duplication of chromosome 1 'Partial duplication of chromosome 1' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262196 Partial duplication of chromosome 2 'Partial duplication of chromosome 2' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010627 X-linked lymphoproliferative syndrome 'X-linked lymphoproliferative syndrome' SubClassOf 'X-linked disease' 'X-linked lymphoproliferative syndrome' SubClassOf 'immunodeficiency disease' 'X-linked lymphoproliferative syndrome' SubClassOf 'X-linked disease' 'X-linked lymphoproliferative syndrome' SubClassOf 'immunodeficiency disease' http://www.ebi.ac.uk/efo/EFO_1001302 Cytomegalovirus Retinitis 'Cytomegalovirus Retinitis' SubClassOf 'retinitis' 'Cytomegalovirus Retinitis' SubClassOf 'cytomegalovirus infection' 'Cytomegalovirus Retinitis' SubClassOf 'retinitis' 'Cytomegalovirus Retinitis' SubClassOf 'cytomegalovirus infection' http://www.orpha.net/ORDO/Orphanet_95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'Syndromic craniosynostosis' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009642 orofaciodigital syndrome type II 'orofaciodigital syndrome type II' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type II' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type II' SubClassOf 'short rib dysplasia' http://www.ebi.ac.uk/efo/EFO_1001300 Cryptogenic Organizing Pneumonia 'Cryptogenic Organizing Pneumonia' SubClassOf 'idiopathic interstitial pneumonia' 'Cryptogenic Organizing Pneumonia' SubClassOf 'idiopathic interstitial pneumonia' http://www.ebi.ac.uk/efo/EFO_1001304 Dental enamel hypoplasia 'Dental enamel hypoplasia' SubClassOf 'tooth hard tissue disease' 'Dental enamel hypoplasia' SubClassOf 'tooth hard tissue disease' http://www.orpha.net/ORDO/Orphanet_262173 Partial deletion of the long arm of chromosome 21 'Partial deletion of the long arm of chromosome 21' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 21' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A 'mucopolysaccharidosis type 4A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0009658 Sanfilippo syndrome type D 'Sanfilippo syndrome type D' SubClassOf 'mucopolysaccharidosis type 3' 'Sanfilippo syndrome type D' SubClassOf 'mucopolysaccharidosis type 3' 'Sanfilippo syndrome type D' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://www.orpha.net/ORDO/Orphanet_227796 Fundus albipunctatus 'Fundus albipunctatus' SubClassOf 'Familial flecked retinopathy' 'Fundus albipunctatus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009657 Sanfilippo syndrome type C 'Sanfilippo syndrome type C' SubClassOf 'mucopolysaccharidosis type 3' 'Sanfilippo syndrome type C' SubClassOf 'mucopolysaccharidosis type 3' 'Sanfilippo syndrome type C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0009656 Sanfilippo syndrome type B 'Sanfilippo syndrome type B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0010645 oculocerebrorenal syndrome 'oculocerebrorenal syndrome' SubClassOf 'syndromic disease' 'oculocerebrorenal syndrome' SubClassOf 'inborn disorder of amino acid absorption and transport' 'oculocerebrorenal syndrome' SubClassOf 'inborn disorder of amino acid absorption and transport' 'oculocerebrorenal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009655 Sanfilippo syndrome type A 'Sanfilippo syndrome type A' SubClassOf 'mucopolysaccharidosis type 3' 'Sanfilippo syndrome type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 'Sanfilippo syndrome type A' SubClassOf 'mucopolysaccharidosis type 3' http://purl.obolibrary.org/obo/MONDO_0009653 mucolipidosis type IV 'mucolipidosis type IV' SubClassOf 'mucolipidosis' 'mucolipidosis type IV' SubClassOf 'mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0009652 mucolipidosis type III gamma 'mucolipidosis type III gamma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0009650 mucolipidosis type II 'mucolipidosis type II' SubClassOf 'has modifier' some 'rare' 'mucolipidosis type II' SubClassOf 'bone disease' 'mucolipidosis type II' SubClassOf 'mucolipidosis' 'mucolipidosis type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 'mucolipidosis type II' SubClassOf 'mucolipidosis' http://www.orpha.net/ORDO/Orphanet_225123 Hemochromatosis type 3 'Hemochromatosis type 3' SubClassOf 'Rare hereditary hemochromatosis' 'Hemochromatosis type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009668 lethal multiple pterygium syndrome 'lethal multiple pterygium syndrome' SubClassOf 'syndromic disease' 'lethal multiple pterygium syndrome' SubClassOf 'multiple pterygium syndrome' 'lethal multiple pterygium syndrome' SubClassOf 'syndromic disease' 'lethal multiple pterygium syndrome' SubClassOf 'multiple pterygium syndrome' http://www.orpha.net/ORDO/Orphanet_227786 Familial flecked retinopathy 'Familial flecked retinopathy' SubClassOf 'Genetic macular dystrophy' 'Familial flecked retinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009666 holocarboxylase synthetase deficiency 'holocarboxylase synthetase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' 'holocarboxylase synthetase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 'mucopolysaccharidosis type 7' SubClassOf 'has modifier' some 'rare' 'mucopolysaccharidosis type 7' SubClassOf 'bone disease' 'mucopolysaccharidosis type 7' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 'mucopolysaccharidosis type 7' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 'mucopolysaccharidosis type 6' SubClassOf 'bone disease' 'mucopolysaccharidosis type 6' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 6' SubClassOf 'has modifier' some 'rare' 'mucopolysaccharidosis type 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 'mucopolysaccharidosis type 6' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0009660 mucopolysaccharidosis type 4B 'mucopolysaccharidosis type 4B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease 'Menkes disease' SubClassOf 'disorder of copper metabolism' 'Menkes disease' SubClassOf 'neurometabolic disease' 'Menkes disease' SubClassOf 'disorder of copper metabolism' 'Menkes disease' SubClassOf 'neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_225154 Familial infantile bilateral striatal necrosis 'Familial infantile bilateral striatal necrosis' SubClassOf 'Infantile bilateral striatal necrosis' 'Familial infantile bilateral striatal necrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009673 spinal muscular atrophy, type II 'spinal muscular atrophy, type II' SubClassOf 'proximal spinal muscular atrophy' 'spinal muscular atrophy, type II' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009672 spinal muscular atrophy, type III 'spinal muscular atrophy, type III' SubClassOf 'proximal spinal muscular atrophy' 'spinal muscular atrophy, type III' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome 'branchio-oto-renal syndrome' SubClassOf 'autosomal dominant disease' 'branchio-oto-renal syndrome' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_225147 Sporadic infantile bilateral striatal necrosis 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'Infantile bilateral striatal necrosis' 'Sporadic infantile bilateral striatal necrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010674 mucopolysaccharidosis type 2 'mucopolysaccharidosis type 2' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 2' SubClassOf 'neurometabolic disease' 'mucopolysaccharidosis type 2' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 2' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 2' SubClassOf 'neurometabolic disease' 'mucopolysaccharidosis type 2' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 'multiple endocrine neoplasia type 2' SubClassOf 'multiple endocrine neoplasia' 'multiple endocrine neoplasia type 2' SubClassOf 'multiple endocrine neoplasia' http://purl.obolibrary.org/obo/MONDO_0007039 neurofibromatosis type 2 'neurofibromatosis type 2' SubClassOf 'neurofibromatosis' 'neurofibromatosis type 2' SubClassOf 'neurofibromatosis' http://purl.obolibrary.org/obo/MONDO_0007037 achondroplasia 'achondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'achondroplasia' SubClassOf 'genetic disorder' 'achondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0009698 Unverricht-Lundborg syndrome 'Unverricht-Lundborg syndrome' SubClassOf 'progressive myoclonus epilepsy' 'Unverricht-Lundborg syndrome' SubClassOf 'progressive myoclonus epilepsy' http://www.orpha.net/ORDO/Orphanet_262119 Partial deletion of the long arm of chromosome 15 'Partial deletion of the long arm of chromosome 15' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 15' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease 'Lafora disease' SubClassOf 'progressive myoclonus epilepsy' 'Lafora disease' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0007031 familial abdominal aortic aneurysm 'familial abdominal aortic aneurysm' SubClassOf 'Abdominal Aortic Aneurysm' 'familial abdominal aortic aneurysm' SubClassOf 'Abdominal Aortic Aneurysm' http://purl.obolibrary.org/obo/MONDO_0009694 myeloperoxidase deficiency 'myeloperoxidase deficiency' SubClassOf 'defective phagocytic cell engulfment' 'myeloperoxidase deficiency' SubClassOf 'defective phagocytic cell engulfment' http://purl.obolibrary.org/obo/MONDO_0007040 Sakati-Nyhan syndrome 'Sakati-Nyhan syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Sakati-Nyhan syndrome' SubClassOf 'acrocephalopolysyndactyly' http://purl.obolibrary.org/obo/MONDO_0007041 apert syndrome 'apert syndrome' SubClassOf 'acrocephalosyndactyly' 'apert syndrome' SubClassOf 'acrocephalosyndactyly' http://purl.obolibrary.org/obo/MONDO_0010680 X-linked Emery-Dreifuss muscular dystrophy 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010683 X-linked centronuclear myopathy 'X-linked centronuclear myopathy' SubClassOf 'centronuclear myopathy' 'X-linked centronuclear myopathy' SubClassOf 'centronuclear myopathy' http://www.orpha.net/ORDO/Orphanet_178382 Congenital vertical talus 'Congenital vertical talus' SubClassOf 'Congenital deformities of limbs' 'Congenital vertical talus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178389 Osteopetrosis - hypogammaglobulinemia 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'Osteopetrosis' 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019012 Carpenter syndrome 'Carpenter syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Carpenter syndrome' SubClassOf 'acrocephalopolysyndactyly' http://purl.obolibrary.org/obo/MONDO_0019031 thrombocytopenia with congenital dyserythropoietic anemia 'thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'congenital dyserythropoietic anemia' 'thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0007045 acrofacial dysostosis, Catania type 'acrofacial dysostosis, Catania type' SubClassOf 'syndromic intellectual disability' 'acrofacial dysostosis, Catania type' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007042 Saethre-Chotzen syndrome 'Saethre-Chotzen syndrome' SubClassOf 'acrocephalosyndactyly' 'Saethre-Chotzen syndrome' SubClassOf 'acrocephalosyndactyly' http://www.orpha.net/ORDO/Orphanet_178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262110 Partial deletion of the long arm of chromosome 14 'Partial deletion of the long arm of chromosome 14' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010698 optic atrophy 2 'optic atrophy 2' SubClassOf 'hereditary optic atrophy' 'optic atrophy 2' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0019026 autosomal recessive osteopetrosis 'autosomal recessive osteopetrosis' SubClassOf 'osteopetrosis' 'autosomal recessive osteopetrosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0007057 acroosteolysis dominant type 'acroosteolysis dominant type' SubClassOf 'acroosteolysis' 'acroosteolysis dominant type' SubClassOf 'acroosteolysis' http://purl.obolibrary.org/obo/MONDO_0007058 acropectorovertebral dysplasia 'acropectorovertebral dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0007055 acromicric dysplasia 'acromicric dysplasia' SubClassOf 'acromelic dysplasia' 'acromicric dysplasia' SubClassOf 'genetic disorder' 'acromicric dysplasia' SubClassOf 'acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_178364 Syndromic microphthalmia type 5 'Syndromic microphthalmia type 5' SubClassOf 'Syndromic microphthalmia' 'Syndromic microphthalmia type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262101 Partial deletion of the long arm of chromosome 13 'Partial deletion of the long arm of chromosome 13' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 13' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy 'inherited hemoglobinopathy' SubClassOf 'hemoglobinopathy' 'inherited hemoglobinopathy' SubClassOf 'hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease 'peroxisomal disease' SubClassOf 'inborn errors of metabolism' 'peroxisomal disease' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism 'inborn errors of metabolism' SubClassOf 'genetic disorder' 'inborn errors of metabolism' SubClassOf 'metabolic disease' 'inborn errors of metabolism' SubClassOf 'genetic disorder' 'inborn errors of metabolism' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0007073 hypoglossia-hypodactyly syndrome 'hypoglossia-hypodactyly syndrome' SubClassOf 'congenital limb malformation' 'hypoglossia-hypodactyly syndrome' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0007072 ADULT syndrome 'ADULT syndrome' SubClassOf 'autosomal dominant disease' 'ADULT syndrome' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_178377 Osteosclerosis-developmental delay-craniosynostosis syndrome 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'Syndromic craniosynostosis' 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001272 bacterial pneumonia 'bacterial pneumonia' SubClassOf 'bacterial disease' 'bacterial pneumonia' SubClassOf 'pneumonia' 'bacterial pneumonia' SubClassOf 'bacterial disease' 'bacterial pneumonia' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia 'hereditary spastic paraplegia' SubClassOf 'paraplegia' 'hereditary spastic paraplegia' SubClassOf 'paraplegia' http://www.orpha.net/ORDO/Orphanet_2879 Phocomelia, Schinzel type 'Phocomelia, Schinzel type' SubClassOf 'Genetic syndrome with limb reduction defects' 'Phocomelia, Schinzel type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly 'gonosome anomaly' SubClassOf 'chromosomal disorder' 'gonosome anomaly' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0007079 alcohol dependence 'alcohol dependence' SubClassOf 'drug dependence' 'alcohol dependence' SubClassOf 'drug dependence' http://www.orpha.net/ORDO/Orphanet_2875 Phakomatosis pigmentovascularis 'Phakomatosis pigmentovascularis' SubClassOf 'Syndromic developmental defect of the eye' 'Phakomatosis pigmentovascularis' SubClassOf 'Malformation syndrome with hamartosis' 'Phakomatosis pigmentovascularis' SubClassOf 'Rare disease with glaucoma as a major feature' 'Phakomatosis pigmentovascularis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Phakomatosis pigmentovascularis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007078 pseudohypoparathyroidism type 1A 'pseudohypoparathyroidism type 1A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800094 http://www.orpha.net/ORDO/Orphanet_2874 Phakomatosis pigmentokeratotica 'Phakomatosis pigmentokeratotica' SubClassOf 'Genetic skin tumor' 'Phakomatosis pigmentokeratotica' SubClassOf 'genetic skin disease' 'Phakomatosis pigmentokeratotica' SubClassOf 'melanocytic nevus' 'Phakomatosis pigmentokeratotica' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2872 Cardiocranial syndrome, Pfeiffer type 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'Syndromic craniosynostosis' 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiocranial syndrome, Pfeiffer type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_178345 Aromatase excess syndrome 'Aromatase excess syndrome' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Aromatase excess syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001284 capillary leak syndrome 'capillary leak syndrome' SubClassOf 'capillary disorder' 'capillary leak syndrome' SubClassOf 'capillary disorder' http://www.orpha.net/ORDO/Orphanet_2882 Sitosterolemia 'Sitosterolemia' SubClassOf 'Rare syndromic dyslipidemia' 'Sitosterolemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019072 intrahepatic cholestasis 'intrahepatic cholestasis' SubClassOf 'pregnancy disorder' http://www.orpha.net/ORDO/Orphanet_2880 Phosphoenolpyruvate carboxykinase deficiency 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'Gluconeogenesis disorder' 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2889 Pili torti 'Pili torti' SubClassOf 'Isolated hair shaft abnormality' 'Pili torti' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2888 Pierre Robin syndrome - faciodigital anomaly 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'Orofacial clefting syndrome' 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0007086 autosomal dominant Alport syndrome 'autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' 'autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_2884 Piebaldism 'Piebaldism' SubClassOf 'Genetic hypopigmentation of the skin' 'Piebaldism' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Piebaldism' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Piebaldism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007095 ameloonychohypohidrotic syndrome 'ameloonychohypohidrotic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ameloonychohypohidrotic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_1001295 microscopic colitis 'microscopic colitis' SubClassOf 'colitis' 'microscopic colitis' SubClassOf 'colitis' http://www.orpha.net/ORDO/Orphanet_2892 Pilodental dysplasia - refractive errors 'Pilodental dysplasia - refractive errors' SubClassOf 'Ectodermal dysplasia syndrome' 'Pilodental dysplasia - refractive errors' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Pilodental dysplasia - refractive errors' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2891 Pili torti - developmental delay - neurological abnormalities 'Pili torti - developmental delay - neurological abnormalities' SubClassOf 'Syndromic hair shaft abnormality' 'Pili torti - developmental delay - neurological abnormalities' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2890 Pili torti - onychodysplasia 'Pili torti - onychodysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Pili torti - onychodysplasia' SubClassOf 'Rare genetic skin disease' 'Pili torti - onychodysplasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://purl.obolibrary.org/obo/MONDO_0019080 alopecia totalis 'alopecia totalis' SubClassOf 'alopecia' 'alopecia totalis' SubClassOf 'alopecia' http://www.ebi.ac.uk/efo/EFO_1001291 ciguatera poisoning 'ciguatera poisoning' SubClassOf 'poisoning' 'ciguatera poisoning' SubClassOf 'poisoning' http://www.ebi.ac.uk/efo/EFO_1001290 chorea gravidarum 'chorea gravidarum' SubClassOf 'chorea' 'chorea gravidarum' SubClassOf 'chorea' http://www.orpha.net/ORDO/Orphanet_2899 Brachyolmia-amelogenesis imperfecta syndrome 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'Brachyolmia' 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2898 X-linked intellectual disability - plagiocephaly 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Syndromic craniosynostosis' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Rare genetic bone development disorder' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Rare genetic bone disease' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Genetic cranial malformation' http://www.orpha.net/ORDO/Orphanet_2897 Pityriasis rubra pilaris 'Pityriasis rubra pilaris' SubClassOf 'Genetic erythrokeratoderma' 'Pityriasis rubra pilaris' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007098 ACys amyloidosis 'ACys amyloidosis' SubClassOf 'cerebral amyloid angiopathy' 'ACys amyloidosis' SubClassOf 'cerebral amyloid angiopathy' http://purl.obolibrary.org/obo/MONDO_0044001 hearing loss, mixed conductive-sensorineural 'hearing loss, mixed conductive-sensorineural' SubClassOf 'hearing loss' 'hearing loss, mixed conductive-sensorineural' SubClassOf 'hearing loss' http://purl.obolibrary.org/obo/MONDO_0019078 Ritscher-Schinzel syndrome 'Ritscher-Schinzel syndrome' SubClassOf 'syndromic intellectual disability' 'Ritscher-Schinzel syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020069 chronic encephalitis 'chronic encephalitis' SubClassOf 'encephalitis' http://purl.obolibrary.org/obo/MONDO_0020068 postinfectious encephalitis 'postinfectious encephalitis' SubClassOf 'encephalitis' http://purl.obolibrary.org/obo/MONDO_0020067 infectious encephalitis 'infectious encephalitis' SubClassOf 'encephalitis' 'infectious encephalitis' SubClassOf 'brain inflammatory disease' 'infectious encephalitis' SubClassOf 'central nervous system infection' 'infectious encephalitis' SubClassOf 'acute disease' 'infectious encephalitis' SubClassOf 'encephalitis' 'infectious encephalitis' SubClassOf 'central nervous system infection' http://www.orpha.net/ORDO/Orphanet_2834 Wrinkly skin syndrome 'Wrinkly skin syndrome' SubClassOf 'Autosomal recessive cutis laxa type 2A' 'Wrinkly skin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2833 Stiff skin syndrome 'Stiff skin syndrome' SubClassOf 'Unclassified genetic skin disorder' 'Stiff skin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2832 Short tarsus - absence of lower eyelashes 'Short tarsus - absence of lower eyelashes' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Short tarsus - absence of lower eyelashes' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_166311 Benign partial infantile seizures 'Benign partial infantile seizures' SubClassOf 'Infantile epilepsy syndrome' 'Benign partial infantile seizures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2831 Rhizomelic dysplasia, Patterson-Lowry type 'Rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Rhizomelic dysplasia, Patterson-Lowry type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166308 Benign infantile focal epilepsy with midline spikes and wave during sleep 'Benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf 'Benign partial infantile seizures' 'Benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2826 Spastic paraplegia - precocious puberty 'Spastic paraplegia - precocious puberty' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - precocious puberty' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_178307 Reticulate acropigmentation of Kitamura 'Reticulate acropigmentation of Kitamura' SubClassOf 'Genetic hyperpigmentation of the skin' 'Reticulate acropigmentation of Kitamura' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019098 autoimmune thrombocytopenia 'autoimmune thrombocytopenia' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune thrombocytopenia' SubClassOf 'type II hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_166305 Benign infantile seizures associated to mild gastroenteritis 'Benign infantile seizures associated to mild gastroenteritis' SubClassOf 'Benign partial infantile seizures' 'Benign infantile seizures associated to mild gastroenteritis' SubClassOf 'Rare genetic epilepsy' http://www.orpha.net/ORDO/Orphanet_2843 Pentosuria 'Pentosuria' SubClassOf 'Disorder of pentose phosphate metabolism' 'Pentosuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166302 Benign partial epilepsy with secondarily generalized seizures in infancy 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'Benign non-familial infantile seizures' 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2839 Pelvis-shoulder dysplasia 'Pelvis-shoulder dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Pelvis-shoulder dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome 'Alopecia-intellectual disability syndrome' SubClassOf 'Alopecia' 'Alopecia-intellectual disability syndrome' SubClassOf 'genetic skin disease' 'Alopecia-intellectual disability syndrome' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2847 Pericardial and diaphragmatic defect 'Pericardial and diaphragmatic defect' SubClassOf 'has_disease_location' some 'pericardium' 'Pericardial and diaphragmatic defect' SubClassOf 'has_disease_location' some 'diaphragm' 'Pericardial and diaphragmatic defect' SubClassOf 'diaphragm disease' 'Pericardial and diaphragmatic defect' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Pericardial and diaphragmatic defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2868 Short stature - valvular heart disease - characteristic facies 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2867 Short stature, Brussels type 'Short stature, Brussels type' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Short stature, Brussels type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2865 Short stature - webbed neck - heart disease 'Short stature - webbed neck - heart disease' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Short stature - webbed neck - heart disease' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_1001435 tenosynovitis 'tenosynovitis' SubClassOf 'tendinitis' 'tenosynovitis' SubClassOf 'tendinitis' http://www.ebi.ac.uk/efo/EFO_1001434 Tendinopathy 'Tendinopathy' SubClassOf 'connective tissue disease' 'Tendinopathy' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_1001431 suppurative thyroiditis 'suppurative thyroiditis' SubClassOf 'thyroiditis' 'suppurative thyroiditis' SubClassOf 'thyroiditis' http://www.ebi.ac.uk/efo/EFO_1001430 Sublingual Gland Neoplasms 'Sublingual Gland Neoplasms' SubClassOf 'neoplasm of major salivary gland' 'Sublingual Gland Neoplasms' SubClassOf 'neoplasm of major salivary gland' http://www.orpha.net/ORDO/Orphanet_71528 Obesity due to prohormone convertase I deficiency 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to prohormone convertase I deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_71529 Obesity due to melanocortin 4 receptor deficiency 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001446 Uterine Inversion 'Uterine Inversion' SubClassOf 'uterine disorder' 'Uterine Inversion' SubClassOf 'uterine disorder' http://www.ebi.ac.uk/efo/EFO_1001443 Tuberculosis, Cutaneous 'Tuberculosis, Cutaneous' SubClassOf 'Tuberculosis' 'Tuberculosis, Cutaneous' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001442 cardiac tuberculosis 'cardiac tuberculosis' SubClassOf 'Tuberculosis' http://www.orpha.net/ORDO/Orphanet_71526 Obesity due to pro-opiomelanocortin deficiency 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_398934 Malignant epithelial tumor of ovary 'Malignant epithelial tumor of ovary' SubClassOf 'Genital neoplasm, female' 'Malignant epithelial tumor of ovary' SubClassOf 'carcinoma' 'Malignant epithelial tumor of ovary' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001447 Vaginal neoplasm 'Vaginal neoplasm' SubClassOf 'vaginal disorder' 'Vaginal neoplasm' SubClassOf 'vaginal disorder' http://www.orpha.net/ORDO/Orphanet_71517 Rapid-onset dystonia-parkinsonism 'Rapid-onset dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'Rapid-onset dystonia-parkinsonism' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_71518 Benign paroxysmal torticollis of infancy 'Benign paroxysmal torticollis of infancy' SubClassOf 'Paroxysmal dystonia' 'Benign paroxysmal torticollis of infancy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001456 central nervous system infection 'central nervous system infection' SubClassOf 'infectious disorder of the nervous system' 'central nervous system infection' SubClassOf 'central nervous system disease' 'central nervous system infection' SubClassOf 'infectious disorder of the nervous system' 'central nervous system infection' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001460 diverticulitis 'diverticulitis' SubClassOf 'inflammatory disease' 'diverticulitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1001467 Hypereosinophilic syndrome 'Hypereosinophilic syndrome' SubClassOf 'eosinophil disorder' 'Hypereosinophilic syndrome' SubClassOf 'eosinophil disorder' http://www.ebi.ac.uk/efo/EFO_1001463 gastroenteritis 'gastroenteritis' SubClassOf 'intestinal disease' 'gastroenteritis' SubClassOf 'inflammatory disease' 'gastroenteritis' SubClassOf 'intestinal disease' 'gastroenteritis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_262092 Partial deletion of the long arm of chromosome 11 'Partial deletion of the long arm of chromosome 11' SubClassOf 'Partial deletion of chromosome 11' 'Partial deletion of the long arm of chromosome 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001476 streptococcal infection 'streptococcal infection' SubClassOf 'gram-positive bacterial infections' 'streptococcal infection' SubClassOf 'gram-positive bacterial infections' http://www.ebi.ac.uk/efo/EFO_1001475 schistosomiasis 'schistosomiasis' SubClassOf 'Helminthiasis' 'schistosomiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_1001472 Myelitis 'Myelitis' SubClassOf 'spinal cord disease' 'Myelitis' SubClassOf 'central nervous system infection' 'Myelitis' SubClassOf 'spinal cord disease' http://www.ebi.ac.uk/efo/EFO_1001485 acromegaly 'acromegaly' SubClassOf 'hyperpituitarism' 'acromegaly' SubClassOf 'hyperpituitarism' http://www.ebi.ac.uk/efo/EFO_1001496 Autosomal dominant polycystic kidney disease 'Autosomal dominant polycystic kidney disease' SubClassOf 'autosomal dominant disease' 'Autosomal dominant polycystic kidney disease' SubClassOf 'Familial cystic renal disease' 'Autosomal dominant polycystic kidney disease' SubClassOf 'autosomal dominant disease' 'Autosomal dominant polycystic kidney disease' SubClassOf 'Rare genetic renal disease' 'Autosomal dominant polycystic kidney disease' SubClassOf 'has_disease_location' some 'kidney' http://www.orpha.net/ORDO/Orphanet_262047 Partial deletion of the long arm of chromosome 6 'Partial deletion of the long arm of chromosome 6' SubClassOf 'Partial deletion of chromosome 6' 'Partial deletion of the long arm of chromosome 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262029 Partial deletion of the long arm of chromosome 4 'Partial deletion of the long arm of chromosome 4' SubClassOf 'Partial deletion of chromosome 4' 'Partial deletion of the long arm of chromosome 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262038 Partial deletion of the long arm of chromosome 5 'Partial deletion of the long arm of chromosome 5' SubClassOf 'Partial deletion of chromosome 5' 'Partial deletion of the long arm of chromosome 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262019 Partial deletion of the long arm of chromosome 3 'Partial deletion of the long arm of chromosome 3' SubClassOf 'Partial deletion of chromosome 3' 'Partial deletion of the long arm of chromosome 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262010 Partial deletion of the long arm of chromosome 2 'Partial deletion of the long arm of chromosome 2' SubClassOf 'Partial deletion of chromosome 2' 'Partial deletion of the long arm of chromosome 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262083 Partial monosomy of the long arm of chromosome 10 'Partial monosomy of the long arm of chromosome 10' SubClassOf 'Partial deletion of chromosome 10' 'Partial monosomy of the long arm of chromosome 10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009506 specific granule deficiency 'specific granule deficiency' SubClassOf 'defective phagocytic cell engulfment' 'specific granule deficiency' SubClassOf 'defective phagocytic cell engulfment' http://www.orpha.net/ORDO/Orphanet_262074 Partial monosomy of the long arm of chromosome 9 'Partial monosomy of the long arm of chromosome 9' SubClassOf 'Partial deletion of chromosome 9' 'Partial monosomy of the long arm of chromosome 9' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009514 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'autosomal recessive disease' 'Laurence-Moon syndrome' SubClassOf 'syndromic intellectual disability' 'Laurence-Moon syndrome' SubClassOf 'autosomal recessive disease' 'Laurence-Moon syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009513 laryngo-onycho-cutaneous syndrome 'laryngo-onycho-cutaneous syndrome' SubClassOf 'junctional epidermolysis bullosa' 'laryngo-onycho-cutaneous syndrome' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0009511 Larsen-like syndrome, B3GAT3 type 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800086 http://purl.obolibrary.org/obo/MONDO_0010505 intellectual disability-balding-patella luxation-acromicria syndrome 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'genetic nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262065 Partial deletion of the long arm of chromosome 8 'Partial deletion of the long arm of chromosome 8' SubClassOf 'Partial deletion of chromosome 8' 'Partial deletion of the long arm of chromosome 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001417 Rhinitis, Allergic, Perennial 'Rhinitis, Allergic, Perennial' SubClassOf 'allergic rhinitis' 'Rhinitis, Allergic, Perennial' SubClassOf 'allergic rhinitis' http://purl.obolibrary.org/obo/MONDO_0009529 pyruvate dehydrogenase E3 deficiency 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'maple syrup urine disease' 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0009525 split hand-foot malformation 3 'split hand-foot malformation 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800090 http://purl.obolibrary.org/obo/MONDO_0009524 intellectual disability-spasticity-ectrodactyly syndrome 'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001424 skin epithelioid hemangioma 'skin epithelioid hemangioma' SubClassOf 'skin hemangioma' 'skin epithelioid hemangioma' SubClassOf 'skin hemangioma' http://purl.obolibrary.org/obo/MONDO_0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome 'Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010518 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Wiskott-Aldrich syndrome' SubClassOf 'hereditary neoplastic syndrome' http://www.orpha.net/ORDO/Orphanet_262056 Partial deletion of the long arm of chromosome 7 'Partial deletion of the long arm of chromosome 7' SubClassOf 'Partial deletion of chromosome 7' 'Partial deletion of the long arm of chromosome 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-resistant focal hyperinsulinism' 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010524 X-linked sideroblastic anemia with ataxia 'X-linked sideroblastic anemia with ataxia' SubClassOf 'inherited sideroblastic anemia' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'inherited sideroblastic anemia' http://purl.obolibrary.org/obo/MONDO_0009533 Dahlberg-Borer-Newcomer syndrome 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010526 Fabry disease 'Fabry disease' SubClassOf 'sphingolipidosis' 'Fabry disease' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0009543 prominent glabella-microcephaly-hypogenitalism syndrome 'prominent glabella-microcephaly-hypogenitalism syndrome' SubClassOf 'syndromic intellectual disability' 'prominent glabella-microcephaly-hypogenitalism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome 'contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010532 infantile-onset X-linked spinal muscular atrophy 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0010543 Barth syndrome 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0010557 choroideremia 'choroideremia' SubClassOf 'X-linked disease' 'choroideremia' SubClassOf 'optic choroid disorder' 'choroideremia' SubClassOf 'X-linked disease' 'choroideremia' SubClassOf 'optic choroid disorder' http://purl.obolibrary.org/obo/MONDO_0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome 'marfanoid habitus-autosomal recessive intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'marfanoid habitus-autosomal recessive intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome 'microcephaly-glomerulonephritis-marfanoid habitus syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-glomerulonephritis-marfanoid habitus syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010558 choroideremia-deafness-obesity syndrome 'choroideremia-deafness-obesity syndrome' SubClassOf 'inherited retinal dystrophy' 'choroideremia-deafness-obesity syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009564 Marden-Walker syndrome 'Marden-Walker syndrome' SubClassOf 'syndromic intellectual disability' 'Marden-Walker syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009563 maple syrup urine disease 'maple syrup urine disease' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' 'maple syrup urine disease' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009562 beta-mannosidosis 'beta-mannosidosis' SubClassOf 'bone disease' 'beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0009561 alpha-mannosidosis 'alpha-mannosidosis' SubClassOf 'bone disease' 'alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0009570 McDonough syndrome 'McDonough syndrome' SubClassOf 'syndromic intellectual disability' 'McDonough syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2792 Otofaciocervical syndrome 'Otofaciocervical syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Otofaciocervical syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2791 Otodental syndrome 'Otodental syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Otodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Otodental syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2790 Autosomal dominant osteosclerosis, Worth type 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Autosomal dominant osteosclerosis, Worth type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009579 Frank-Ter Haar syndrome 'Frank-Ter Haar syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010568 Aicardi syndrome 'Aicardi syndrome' SubClassOf 'syndromic disease' 'Aicardi syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009576 megalocornea 'megalocornea' SubClassOf 'genetic disorder' 'megalocornea' SubClassOf 'corneal disease' 'megalocornea' SubClassOf 'genetic disorder' 'megalocornea' SubClassOf 'corneal disease' http://www.orpha.net/ORDO/Orphanet_2796 Pachydermoperiostosis 'Pachydermoperiostosis' SubClassOf 'Primary hypertrophic osteoarthropathy' 'Pachydermoperiostosis' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 'intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_262001 Partial deletion of the long arm of chromosome 1 'Partial deletion of the long arm of chromosome 1' SubClassOf 'Partial deletion of chromosome 1' 'Partial deletion of the long arm of chromosome 1' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_276630 Symptomatic form of Coffin-Lowry syndrome in female carriers 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166265 Dentinogenesis imperfecta type 3 'Dentinogenesis imperfecta type 3' SubClassOf 'Dentinogenesis imperfecta' 'Dentinogenesis imperfecta type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166260 Dentinogenesis imperfecta type 2 'Dentinogenesis imperfecta type 2' SubClassOf 'Dentinogenesis imperfecta' 'Dentinogenesis imperfecta type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0010578 deafness dystonia syndrome 'deafness dystonia syndrome' SubClassOf 'inherited neurodegenerative disorder' 'deafness dystonia syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0009588 Langer mesomelic dysplasia 'Langer mesomelic dysplasia' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'Langer mesomelic dysplasia' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009584 intellectual disability, Buenos-Aires type 'intellectual disability, Buenos-Aires type' SubClassOf 'syndromic intellectual disability' 'intellectual disability, Buenos-Aires type' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009593 spondylometaphyseal dysplasia, Sedaghatian type 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'spondylodysplastic dysplasia' 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800080 http://purl.obolibrary.org/obo/MONDO_0010570 craniofrontonasal syndrome 'craniofrontonasal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome 'occipital horn syndrome' SubClassOf 'disorder of copper metabolism' 'occipital horn syndrome' SubClassOf 'inherited cutis laxa' 'occipital horn syndrome' SubClassOf 'disorder of copper metabolism' 'occipital horn syndrome' SubClassOf 'inherited cutis laxa' http://www.orpha.net/ORDO/Orphanet_166295 Benign non-familial infantile seizures 'Benign non-familial infantile seizures' SubClassOf 'Benign partial infantile seizures' 'Benign non-familial infantile seizures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009597 metaphyseal chondrodysplasia, Spahr type 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'genetic disorder' 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_166299 Benign partial epilepsy of infancy with complex partial seizures 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'Benign non-familial infantile seizures' 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia 'cartilage-hair hypoplasia' SubClassOf 'multiple metaphyseal dysplasia' 'cartilage-hair hypoplasia' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010586 X-linked Ehlers-Danlos syndrome 'X-linked Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'X-linked Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' http://www.orpha.net/ORDO/Orphanet_166286 Porokeratotic eccrine ostial and dermal duct nevus 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'hamartoma' 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'melanocytic nevus' 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166282 Familial sick sinus syndrome 'Familial sick sinus syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Familial sick sinus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276608 Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'Familial hyperinsulinism' 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2750 Orofaciodigital syndrome type 1 'Orofaciodigital syndrome type 1' SubClassOf 'Genetic sebaceous gland anomaly' 'Orofaciodigital syndrome type 1' SubClassOf 'Syndromic renal or urinary tract malformation' 'Orofaciodigital syndrome type 1' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 1' SubClassOf 'Ectodermal dysplasia syndrome' 'Orofaciodigital syndrome type 1' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome type 1' SubClassOf 'Rare genetic skin disease' 'Orofaciodigital syndrome type 1' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Orofaciodigital syndrome type 1' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofaciodigital syndrome type 1' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Orofaciodigital syndrome type 1' SubClassOf 'Genetic renal or urinary tract malformation' http://www.ebi.ac.uk/efo/EFO_1001391 Periapical Periodontitis 'Periapical Periodontitis' SubClassOf 'periodontitis' 'Periapical Periodontitis' SubClassOf 'periodontitis' http://www.orpha.net/ORDO/Orphanet_2756 Orofaciodigital syndrome type 10 'Orofaciodigital syndrome type 10' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 10' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Orofaciodigital syndrome type 10' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofaciodigital syndrome type 10' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.ebi.ac.uk/efo/EFO_1001399 Pneumonia, Aspiration 'Pneumonia, Aspiration' SubClassOf 'pneumonitis' 'Pneumonia, Aspiration' SubClassOf 'pneumonitis' http://www.orpha.net/ORDO/Orphanet_2755 Orofaciodigital syndrome type 8 'Orofaciodigital syndrome type 8' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 8' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome type 8' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Orofaciodigital syndrome type 8' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2754 Joubert syndrome with orofaciodigital defect 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Orofaciodigital syndrome' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_2753 Orofaciodigital syndrome type 4 'Orofaciodigital syndrome type 4' SubClassOf 'Short rib dysplasia' 'Orofaciodigital syndrome type 4' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 4' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome type 4' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Orofaciodigital syndrome type 4' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofaciodigital syndrome type 4' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2752 Orofaciodigital syndrome type 3 'Orofaciodigital syndrome type 3' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 3' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Orofaciodigital syndrome type 3' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofaciodigital syndrome type 3' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.ebi.ac.uk/efo/EFO_1001395 Phlebitis 'Phlebitis' SubClassOf 'vein disorder' 'Phlebitis' SubClassOf 'vein disorder' http://www.orpha.net/ORDO/Orphanet_2751 Orofaciodigital syndrome type 2 'Orofaciodigital syndrome type 2' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 2' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome type 2' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Orofaciodigital syndrome type 2' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2749 Oromandibular-limb hypogenesis syndrome 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'Oromandibular-limb anomalies syndrome' 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Oromandibular-limb hypogenesis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2769 Familial osteodysplasia, Anderson type 'Familial osteodysplasia, Anderson type' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Familial osteodysplasia, Anderson type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2767 Carpotarsal osteochondromatosis 'Carpotarsal osteochondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Carpotarsal osteochondromatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2763 Osteocraniostenosis 'Osteocraniostenosis' SubClassOf 'Slender bone dysplasia' 'Osteocraniostenosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2762 Progressive osseous heteroplasia 'Progressive osseous heteroplasia' SubClassOf 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' 'Progressive osseous heteroplasia' SubClassOf 'inherited epidermolysis bullosa' 'Progressive osseous heteroplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2770 Nasu-Hakola disease 'Nasu-Hakola disease' SubClassOf 'Leukodystrophy' 'Nasu-Hakola disease' SubClassOf 'Primary osteolysis' 'Nasu-Hakola disease' SubClassOf 'Primary bone dysplasia' 'Nasu-Hakola disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2779 Osteopathia striata - pigmentary dermopathy - white forelock 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'Primary bone dysplasia with increased bone density' 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2777 Osteomesopyknosis 'Osteomesopyknosis' SubClassOf 'Osteopetrosis' 'Osteomesopyknosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2776 Autosomal recessive distal osteolysis syndrome 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'Primary osteolysis' 'Autosomal recessive distal osteolysis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2774 Multicentric carpo-tarsal osteolysis with or without nephropathy 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'Primary osteolysis' 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2783 Autosomal dominant osteopetrosis type 1 'Autosomal dominant osteopetrosis type 1' SubClassOf 'Osteopetrosis' 'Autosomal dominant osteopetrosis type 1' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2781 Osteopetrosis 'Osteopetrosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Osteopetrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2780 Osteopathia striata - cranial sclerosis 'Osteopathia striata - cranial sclerosis' SubClassOf 'Osteopetrosis' 'Osteopathia striata - cranial sclerosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2789 Lateral meningocele syndrome 'Lateral meningocele syndrome' SubClassOf 'Primary bone dysplasia with increased bone density' 'Lateral meningocele syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Lateral meningocele syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2788 Osteoporosis - pseudoglioma 'Osteoporosis - pseudoglioma' SubClassOf 'Congenital vitreoretinal dysplasia' 'Osteoporosis - pseudoglioma' SubClassOf 'Vitreoretinopathy' http://www.orpha.net/ORDO/Orphanet_2785 Osteopetrosis with renal tubular acidosis 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Osteopetrosis' 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Genetic renal tubular disease' 'Osteopetrosis with renal tubular acidosis' SubClassOf 'renal tubule disease' 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2714 Oculo-palato-cerebral syndrome 'Oculo-palato-cerebral syndrome' SubClassOf 'Orofacial clefting syndrome' 'Oculo-palato-cerebral syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oculo-palato-cerebral syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Oculo-palato-cerebral syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2713 Oculoosteocutaneous syndrome 'Oculoosteocutaneous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculoosteocutaneous syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2710 Oculodentodigital dysplasia 'Oculodentodigital dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculodentodigital dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Oculodentodigital dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Oculodentodigital dysplasia' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Oculodentodigital dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculodentodigital dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2709 Oculodental syndrome, Rutherfurd type 'Oculodental syndrome, Rutherfurd type' SubClassOf 'Syndromic corneal dystrophy' 'Oculodental syndrome, Rutherfurd type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculodental syndrome, Rutherfurd type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2707 Oculocerebrofacial syndrome, Kaufman type 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2723 Odontotrichomelic syndrome 'Odontotrichomelic syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odontotrichomelic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Odontotrichomelic syndrome' SubClassOf 'Orofacial clefting syndrome' 'Odontotrichomelic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2722 Odonto-onycho dysplasia - alopecia 'Odonto-onycho dysplasia - alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Odonto-onycho dysplasia - alopecia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Odonto-onycho dysplasia - alopecia' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2721 Odonto-onycho-dermal dysplasia 'Odonto-onycho-dermal dysplasia' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Odonto-onycho-dermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Odonto-onycho-dermal dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odonto-onycho-dermal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2719 Oculocerebral hypopigmentation syndrome, Cross type 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Syndromic oculocutaneous albinism' 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2718 Oculotrichodysplasia 'Oculotrichodysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculotrichodysplasia' SubClassOf 'Syndromic retinitis pigmentosa' 'Oculotrichodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2717 Oculotrichoanal syndrome 'Oculotrichoanal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Oculotrichoanal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2716 Oculo-skeletal-renal syndrome 'Oculo-skeletal-renal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Oculo-skeletal-renal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2736 Lethal omphalocele-cleft palate syndrome 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'Orofacial clefting syndrome' 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2733 Omodysplasia 'Omodysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Omodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2731 Taurodontia - absent teeth - sparse hair 'Taurodontia - absent teeth - sparse hair' SubClassOf 'Ectodermal dysplasia syndrome' 'Taurodontia - absent teeth - sparse hair' SubClassOf 'Rare genetic skin disease' 'Taurodontia - absent teeth - sparse hair' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_2730 Postaxial tetramelic oligodactyly 'Postaxial tetramelic oligodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Postaxial tetramelic oligodactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2746 Opsismodysplasia 'Opsismodysplasia' SubClassOf 'Spondylodysplastic dysplasia' 'Opsismodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2744 Horizontal gaze palsy with progressive scoliosis 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'Syndrome with a symptomatic strabismus' 'Horizontal gaze palsy with progressive scoliosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2743 Ophthalmoplegia - intellectual disability - lingua scrotalis 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2741 Ophthalmomandibulomelic dysplasia 'Ophthalmomandibulomelic dysplasia' SubClassOf 'Syndromic corneal dystrophy' 'Ophthalmomandibulomelic dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Ophthalmomandibulomelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_117573 Syndromic anorectal malformation 'Syndromic anorectal malformation' SubClassOf 'Anorectal malformation' 'Syndromic anorectal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001105 pigmented spindle cell nevus 'pigmented spindle cell nevus' SubClassOf 'melanocytic nevus' 'pigmented spindle cell nevus' SubClassOf 'melanocytic nevus' http://www.ebi.ac.uk/efo/EFO_1001104 phimosis 'phimosis' SubClassOf 'penile disorder' 'phimosis' SubClassOf 'penile disorder' http://www.ebi.ac.uk/efo/EFO_1001103 persistent fetal circulation syndrome 'persistent fetal circulation syndrome' SubClassOf 'congenital anomaly of cardiovascular system' 'persistent fetal circulation syndrome' SubClassOf 'congenital anomaly of cardiovascular system' http://www.ebi.ac.uk/efo/EFO_1001102 peroneal nerve paralysis 'peroneal nerve paralysis' SubClassOf 'peripheral nervous system disease' 'peroneal nerve paralysis' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001100 peritoneal neoplasm 'peritoneal neoplasm' SubClassOf 'neoplasm' 'peritoneal neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1001108 pituitary apoplexy 'pituitary apoplexy' SubClassOf 'pituitary gland infarction' 'pituitary apoplexy' SubClassOf 'pituitary gland infarction' http://www.ebi.ac.uk/efo/EFO_1001106 pigmented villonodular synovitis 'pigmented villonodular synovitis' SubClassOf 'has modifier' some 'rare' 'neoplasm' DisjointWith 'pigmented villonodular synovitis' 'Tenosynovial Giant Cell Tumor' DisjointWith 'pigmented villonodular synovitis' 'pigmented villonodular synovitis' SubClassOf 'rheumatic disease' 'pigmented villonodular synovitis' SubClassOf 'synovitis' 'pigmented villonodular synovitis' SubClassOf 'synovitis' http://www.ebi.ac.uk/efo/EFO_1001116 polyradiculoneuropathy 'polyradiculoneuropathy' SubClassOf 'polyneuropathy' 'polyradiculoneuropathy' SubClassOf 'polyneuropathy' http://www.ebi.ac.uk/efo/EFO_1001113 pneumatosis cystoides intestinalis 'pneumatosis cystoides intestinalis' SubClassOf 'intestinal disease' 'pneumatosis cystoides intestinalis' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_1001111 placental site trophoblastic tumor 'placental site trophoblastic tumor' SubClassOf 'Gestational trophoblastic neoplasm' 'placental site trophoblastic tumor' SubClassOf 'gestational trophoblastic disease' 'placental site trophoblastic tumor' SubClassOf 'gestational trophoblastic neoplasm' 'placental site trophoblastic tumor' SubClassOf 'gestational trophoblastic neoplasm' http://www.ebi.ac.uk/efo/EFO_1001110 pituitary-dependent Cushing's disease 'pituitary-dependent Cushing's disease' SubClassOf 'hyperpituitarism' 'pituitary-dependent Cushing's disease' SubClassOf 'hyperpituitarism' http://www.ebi.ac.uk/efo/EFO_1001119 posterior uveitis 'posterior uveitis' SubClassOf 'uveitis' 'posterior uveitis' SubClassOf 'uveitis' http://www.ebi.ac.uk/efo/EFO_1001117 postcholecystectomy syndrome 'postcholecystectomy syndrome' SubClassOf 'biliary tract disease' 'postcholecystectomy syndrome' SubClassOf 'biliary tract disease' http://www.ebi.ac.uk/efo/EFO_1001127 primary Haemophilus infectious disease 'primary Haemophilus infectious disease' SubClassOf 'bacterial disease' 'primary Haemophilus infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001123 primary Anaplasmataceae infectious disease 'primary Anaplasmataceae infectious disease' SubClassOf 'Rickettsiaceae infectious disease' http://www.ebi.ac.uk/efo/EFO_1001122 primary Actinomycetales infectious disease 'primary Actinomycetales infectious disease' SubClassOf 'anaerobic bacteria infectious disease' 'primary Actinomycetales infectious disease' SubClassOf 'gram-positive bacterial infections' 'primary Actinomycetales infectious disease' SubClassOf 'anaerobic bacteria infectious disease' 'primary Actinomycetales infectious disease' SubClassOf 'gram-positive bacterial infections' http://www.ebi.ac.uk/efo/EFO_1001128 Rickettsiaceae infectious disease 'Rickettsiaceae infectious disease' SubClassOf 'rickettsiosis' http://www.ebi.ac.uk/efo/EFO_1001130 Proteus infectious disease 'Proteus infectious disease' SubClassOf 'bacterial disease' 'Proteus infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001135 pulmonary plasma cell granuloma 'pulmonary plasma cell granuloma' SubClassOf 'lung disease' 'pulmonary plasma cell granuloma' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_1001132 pseudotumor cerebri 'pseudotumor cerebri' SubClassOf 'cerebrovascular disorder' 'pseudotumor cerebri' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1001131 pseudobulbar palsy 'pseudobulbar palsy' SubClassOf 'cranial nerve neuropathy' 'pseudobulbar palsy' SubClassOf 'cranial nerve neuropathy' http://www.ebi.ac.uk/efo/EFO_1001139 pulpitis 'pulpitis' SubClassOf 'dental pulp disease' 'pulpitis' SubClassOf 'dental pulp disease' http://www.ebi.ac.uk/efo/EFO_1001141 pyelonephritis 'pyelonephritis' SubClassOf 'bacterial urinary tract infection' 'pyelonephritis' SubClassOf 'bacterial urinary tract infection' http://www.ebi.ac.uk/efo/EFO_1001148 relapsing polychondritis 'relapsing polychondritis' SubClassOf 'chondromalacia' 'relapsing polychondritis' SubClassOf 'chondromalacia' http://www.ebi.ac.uk/efo/EFO_1001147 reflex sympathetic dystrophy 'reflex sympathetic dystrophy' SubClassOf 'complex regional pain syndrome' 'reflex sympathetic dystrophy' SubClassOf 'complex regional pain syndrome' http://www.ebi.ac.uk/efo/EFO_1001144 rat-bite fever 'rat-bite fever' SubClassOf 'bacterial disease' 'rat-bite fever' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001143 radial nerve lesion 'radial nerve lesion' SubClassOf 'radial neuropathy' 'radial nerve lesion' SubClassOf 'radial neuropathy' http://www.orpha.net/ORDO/Orphanet_2199 Epidermolytic palmoplantar keratoderma 'Epidermolytic palmoplantar keratoderma' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Epidermolytic palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2198 Palmoplantar keratoderma-esophageal carcinoma syndrome 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'Genetic gastro-esophageal disease' 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2195 Dicarboxylic aminoaciduria 'Dicarboxylic aminoaciduria' SubClassOf 'Disorder of amino acid absorption and transport' 'Dicarboxylic aminoaciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2190 Congenital hydronephrosis 'Congenital hydronephrosis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Congenital hydronephrosis' SubClassOf 'hydronephrosis' 'Congenital hydronephrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97678 Maternal uniparental disomy of chromosome 13 'Maternal uniparental disomy of chromosome 13' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 13' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97685 17q11 microdeletion syndrome '17q11 microdeletion syndrome' SubClassOf 'Neurofibromatosis type 1' '17q11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q11 microdeletion syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' '17q11 microdeletion syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' '17q11 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' '17q11 microdeletion syndrome' SubClassOf 'Rare genetic renal disease' '17q11 microdeletion syndrome' SubClassOf 'Phakomatosis with eye involvement' '17q11 microdeletion syndrome' SubClassOf 'Neurocutaneous syndrome with epilepsy' '17q11 microdeletion syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_46059 Lathosterolosis 'Lathosterolosis' SubClassOf 'Sterol biosynthesis disorder' 'Lathosterolosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2156 Hirsutism-skeletal dysplasia-intellectual disability syndrome 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2155 Hirschsprung disease - deafness - polydactyly 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Syndromic intestinal malformation' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_2153 Hirschsprung disease - nail hypoplasia - dysmorphism 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'Syndromic intestinal malformation' 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_2151 Hirschsprung disease - ganglioneuroblastoma 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'Syndromic intestinal malformation' 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_2150 Hirschsprung disease - type D brachydactyly 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Syndromic intestinal malformation' 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_2157 Histidinemia 'Histidinemia' SubClassOf 'Disorder of histidine metabolism' 'Histidinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2166 Holoprosencephaly - postaxial polydactyly 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2163 Holoprosencephaly - craniosynostosis 'Holoprosencephaly - craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'Holoprosencephaly - craniosynostosis' SubClassOf 'Rare genetic bone disease' 'Holoprosencephaly - craniosynostosis' SubClassOf 'Rare genetic bone development disorder' 'Holoprosencephaly - craniosynostosis' SubClassOf 'Genetic cranial malformation' http://www.orpha.net/ORDO/Orphanet_2162 Holoprosencephaly 'Holoprosencephaly' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Holoprosencephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly' SubClassOf 'Midline cerebral malformation' 'Holoprosencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Holoprosencephaly' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Holoprosencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_357225 Primary non-essential cutis verticis gyrata 'Primary non-essential cutis verticis gyrata' SubClassOf 'inherited epidermolysis bullosa' 'Primary non-essential cutis verticis gyrata' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Primary non-essential cutis verticis gyrata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2169 Methylcobalamin deficiency type cblE 'Methylcobalamin deficiency type cblE' SubClassOf 'Homocystinuria without methylmalonic aciduria' 'Methylcobalamin deficiency type cblE' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2168 Homocarnosinosis 'Homocarnosinosis' SubClassOf 'Disorder of peptide metabolism' 'Homocarnosinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2177 Hydranencephaly 'Hydranencephaly' SubClassOf 'Encephaloclastic disorder' 'Hydranencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2176 Infantile systemic hyalinosis 'Infantile systemic hyalinosis' SubClassOf 'Primary osteolysis' 'Infantile systemic hyalinosis' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Infantile systemic hyalinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2172 Microcephaly - glomerulonephritis - marfanoid habitus 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_357237 Severe combined immunodeficiency due to CARD11 deficiency 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2170 Methylcobalamin deficiency type cblG 'Methylcobalamin deficiency type cblG' SubClassOf 'Homocystinuria without methylmalonic aciduria' 'Methylcobalamin deficiency type cblG' SubClassOf 'Genetic thrombotic microangiopathy' 'Methylcobalamin deficiency type cblG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2189 Hydrolethalus 'Hydrolethalus' SubClassOf 'Orofacial clefting syndrome' 'Hydrolethalus' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2186 Hydrocephalus - blue sclerae - nephropathy 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_2185 Congenital hydrocephalus 'Congenital hydrocephalus' SubClassOf 'Genetic non-syndromic central nervous system malformation' 'Congenital hydrocephalus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009404 hypertelorism, microtia, facial clefting syndrome 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'syndromic intellectual disability' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'autosomal recessive disease' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'syndromic intellectual disability' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009402 acrofrontofacionasal dysostosis 2 'acrofrontofacionasal dysostosis 2' SubClassOf 'acrofrontofacionasal dysostosis' 'acrofrontofacionasal dysostosis 2' SubClassOf 'acrofrontofacionasal dysostosis' http://purl.obolibrary.org/obo/MONDO_0009401 hyperprolinemia type 2 'hyperprolinemia type 2' SubClassOf 'hyperprolinemia' 'hyperprolinemia type 2' SubClassOf 'hyperprolinemia' http://purl.obolibrary.org/obo/MONDO_0009400 hyperprolinemia type 1 'hyperprolinemia type 1' SubClassOf 'hyperprolinemia' 'hyperprolinemia type 1' SubClassOf 'hyperprolinemia' http://www.orpha.net/ORDO/Orphanet_2181 Hydrocephaly - tall stature - joint laxity 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0010403 albinism-hearing loss syndrome 'albinism-hearing loss syndrome' SubClassOf 'albinism' 'albinism-hearing loss syndrome' SubClassOf 'albinism' http://www.orpha.net/ORDO/Orphanet_2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'Familial isolated hypoparathyroidism' 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrine syndrome type 1 'autoimmune polyendocrine syndrome type 1' SubClassOf 'autoimmune polyendocrinopathy' 'autoimmune polyendocrine syndrome type 1' SubClassOf 'autoimmune polyendocrinopathy' http://www.orpha.net/ORDO/Orphanet_2238 Familial isolated hypoparathyroidism 'Familial isolated hypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' 'Familial isolated hypoparathyroidism' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Familial isolated hypoparathyroidism' SubClassOf 'genetic hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_2237 Hypoparathyroidism - deafness - renal disease 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndromic renal or urinary tract malformation' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Partial deletion of the short arm of chromosome 10' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Genetic renal or urinary tract malformation' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_2235 Hypogonadotropic hypogonadism - retinitis pigmentosa 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'Retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'dysostosis of genetic origin' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://www.orpha.net/ORDO/Orphanet_2234 Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0009426 hypoparathyroidism-retardation-dysmorphism syndrome 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800063 http://www.orpha.net/ORDO/Orphanet_2254 Pontocerebellar hypoplasia type 1 'Pontocerebellar hypoplasia type 1' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Pontocerebellar hypoplasia type 1' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2252 Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Syndromic urogenital tract malformation' 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Genetic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0009435 hypospadias-intellectual disability, Goldblatt type syndrome 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'syndromic intellectual disability' 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010426 X-linked endothelial corneal dystrophy 'X-linked endothelial corneal dystrophy' SubClassOf 'posterior corneal dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf 'corneal endothelial dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf 'posterior corneal dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf 'corneal endothelial dystrophy' http://purl.obolibrary.org/obo/MONDO_0009431 hereditary hypophosphatemic rickets with hypercalciuria 'hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800096 http://purl.obolibrary.org/obo/MONDO_0010428 chromosome Xp11.23-p11.22 duplication syndrome 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2257 Familial primary pulmonary hypoplasia 'Familial primary pulmonary hypoplasia' SubClassOf 'Genetic respiratory malformation' 'Familial primary pulmonary hypoplasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Familial primary pulmonary hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2256 Fibulo-ulnar hypoplasia - renal anomalies 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_2266 Hypotrichosis-intellectual disability, Lopes type 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2261 Hypospadias - intellectual disability, Goldblatt type 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Syndromic urogenital tract malformation' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Genetic urogenital tract malformation' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2269 Ichthyosis - alopecia - eclabion - ectropion - intellectual disability 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'Ectodermal dysplasia syndrome' 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_2268 ICF syndrome 'ICF syndrome' SubClassOf 'Syndromic agammaglobulinemia' 'ICF syndrome' SubClassOf 'inborn errors of immunity' http://www.orpha.net/ORDO/Orphanet_2267 Ichthyosis-cheek-eyebrow syndrome 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia 'Schimke immuno-osseous dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009452 Vici syndrome 'Vici syndrome' SubClassOf 'autosomal recessive disease' 'Vici syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_2200 Focal palmoplantar and gingival keratoderma 'Focal palmoplantar and gingival keratoderma' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' 'Focal palmoplantar and gingival keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2207 Familial primary hyperparathyroidism 'Familial primary hyperparathyroidism' SubClassOf 'Genetic hyperparathyroidism' 'Familial primary hyperparathyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010459 amyotrophic lateral sclerosis type 15 'amyotrophic lateral sclerosis type 15' SubClassOf 'familial amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis type 15' SubClassOf 'familial amyotrophic lateral sclerosis' http://www.orpha.net/ORDO/Orphanet_2204 Dysplastic cortical hyperostosis 'Dysplastic cortical hyperostosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Dysplastic cortical hyperostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2203 Hyperlysinemia 'Hyperlysinemia' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' 'Hyperlysinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2202 Palmoplantar keratoderma-deafness syndrome 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma-deafness syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2201 Palmoplantar keratoderma-spastic paralysis syndrome 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2211 Hypertelorism - hypospadias - polysyndactyly syndrome 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Genetic urogenital tract malformation' 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0009479 Johanson-Blizzard syndrome 'Johanson-Blizzard syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Johanson-Blizzard syndrome' SubClassOf 'syndromic intellectual disability' 'Johanson-Blizzard syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Johanson-Blizzard syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2218 Cervical hypertrichosis - peripheral neuropathy 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Hypertrichosis' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2213 Hypertelorism-microtia-facial clefting syndrome 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Orofacial clefting syndrome' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0009483 kapur-Toriello syndrome 'kapur-Toriello syndrome' SubClassOf 'syndromic intellectual disability' 'kapur-Toriello syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2209 Maternal hyperphenylalaninemia 'Maternal hyperphenylalaninemia' SubClassOf 'Disorder of phenylalanine metabolism' 'Maternal hyperphenylalaninemia' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' http://www.orpha.net/ORDO/Orphanet_2222 Hypertrichosis lanuginosa congenita 'Hypertrichosis lanuginosa congenita' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypertrichosis lanuginosa congenita' SubClassOf 'Hypertrichosis' 'Hypertrichosis lanuginosa congenita' SubClassOf 'Eyebrow/eyelashes hypertrichosis' 'Hypertrichosis lanuginosa congenita' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2220 Hypertrichosis cubiti - short stature 'Hypertrichosis cubiti - short stature' SubClassOf 'Hypertrichosis' 'Hypertrichosis cubiti - short stature' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypertrichosis cubiti - short stature' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Hypertrichosis cubiti - short stature' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2228 Hypodontia - dysplasia of nails 'Hypodontia - dysplasia of nails' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypodontia - dysplasia of nails' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Hypodontia - dysplasia of nails' SubClassOf 'Rare genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0009485 oculocerebrofacial syndrome, Kaufman type 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'syndromic intellectual disability' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001031 malignant hypertension 'malignant hypertension' SubClassOf 'hypertension' 'malignant hypertension' SubClassOf 'hypertension' http://www.ebi.ac.uk/efo/EFO_1001030 male genital tuberculosis 'male genital tuberculosis' SubClassOf 'urogenital tuberculosis' 'male genital tuberculosis' SubClassOf 'urogenital tuberculosis' http://www.ebi.ac.uk/efo/EFO_1001037 meconium aspiration syndrome 'meconium aspiration syndrome' SubClassOf 'neonatal aspiration syndrome' 'meconium aspiration syndrome' SubClassOf 'neonatal aspiration syndrome' http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease 'Krabbe disease' SubClassOf 'sphingolipidosis' 'Krabbe disease' SubClassOf 'sphingolipidosis' http://www.ebi.ac.uk/efo/EFO_1001036 Meckel's diverticulum 'Meckel's diverticulum' SubClassOf 'genetic disorder' 'Meckel's diverticulum' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001035 maxillary sinus neoplasm 'maxillary sinus neoplasm' SubClassOf 'paranasal sinus neoplasm' 'maxillary sinus neoplasm' SubClassOf 'paranasal sinus neoplasm' http://www.ebi.ac.uk/efo/EFO_1001034 mastitis 'mastitis' SubClassOf 'inflammatory disease' 'mastitis' SubClassOf 'breast disease' 'mastitis' SubClassOf 'inflammatory disease' 'mastitis' SubClassOf 'breast disease' http://www.ebi.ac.uk/efo/EFO_1001033 marasmus 'marasmus' SubClassOf 'protein energy malnutrition' 'marasmus' SubClassOf 'protein energy malnutrition' http://purl.obolibrary.org/obo/MONDO_0009495 Keutel syndrome 'Keutel syndrome' SubClassOf 'syndromic intellectual disability' 'Keutel syndrome' SubClassOf 'chondrodysplasia punctata' 'Keutel syndrome' SubClassOf 'syndromic intellectual disability' 'Keutel syndrome' SubClassOf 'chondrodysplasia punctata' http://www.ebi.ac.uk/efo/EFO_1001040 meningococcal meningitis 'meningococcal meningitis' SubClassOf 'bacterial meningitis' 'meningococcal meningitis' SubClassOf 'bacterial meningitis' http://www.ebi.ac.uk/efo/EFO_1001059 neonatal myasthenia gravis 'neonatal myasthenia gravis' SubClassOf 'Myasthenia gravis' 'neonatal myasthenia gravis' SubClassOf 'Myasthenia gravis' http://www.orpha.net/ORDO/Orphanet_227976 Autosomal recessive optic atrophy, OPA7 type 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'Autosomal recessive isolated optic atrophy' 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001057 necrotizing sialometaplasia 'necrotizing sialometaplasia' SubClassOf 'salivary gland disease' 'necrotizing sialometaplasia' SubClassOf 'salivary gland disease' http://www.ebi.ac.uk/efo/EFO_1001055 myxedema 'myxedema' SubClassOf 'hypothyroidism' 'myxedema' SubClassOf 'hypothyroidism' http://www.ebi.ac.uk/efo/EFO_1001054 myofascial pain syndrome 'myofascial pain syndrome' SubClassOf 'myopathy' 'myofascial pain syndrome' SubClassOf 'myopathy' http://www.ebi.ac.uk/efo/EFO_1001062 nodular goiter 'nodular goiter' SubClassOf 'goiter' 'nodular goiter' SubClassOf 'goiter' http://www.ebi.ac.uk/efo/EFO_1001061 neurogenic bowel 'neurogenic bowel' SubClassOf 'intestinal disease' 'neurogenic bowel' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_1001060 neovascular glaucoma 'neovascular glaucoma' SubClassOf 'glaucoma' 'neovascular glaucoma' SubClassOf 'glaucoma' http://www.ebi.ac.uk/efo/EFO_1001069 ocular hypertension 'ocular hypertension' SubClassOf 'eye disease' 'ocular hypertension' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_1001068 obstructive jaundice 'obstructive jaundice' SubClassOf 'cholestasis' 'obstructive jaundice' SubClassOf 'cholestasis' http://www.ebi.ac.uk/efo/EFO_1001067 nutritional deficiency disease 'nutritional deficiency disease' SubClassOf 'nutritional disorder' 'nutritional deficiency disease' SubClassOf 'nutritional disorder' http://www.ebi.ac.uk/efo/EFO_1001065 normal pressure hydrocephalus 'normal pressure hydrocephalus' SubClassOf 'communicating hydrocephalus' 'normal pressure hydrocephalus' SubClassOf 'communicating hydrocephalus' http://www.ebi.ac.uk/efo/EFO_1001075 oral leukoedema 'oral leukoedema' SubClassOf 'mouth disease' 'oral leukoedema' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_1001074 optic papillitis 'optic papillitis' SubClassOf 'optic neuritis' 'optic papillitis' SubClassOf 'optic neuritis' http://www.ebi.ac.uk/efo/EFO_1001073 optic nerve neoplasm 'optic nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'optic nerve neoplasm' SubClassOf 'optic nerve disorder' 'optic nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'optic nerve neoplasm' SubClassOf 'optic nerve disorder' http://www.ebi.ac.uk/efo/EFO_1001071 oophoritis 'oophoritis' SubClassOf 'inflammatory disease' 'oophoritis' SubClassOf 'ovarian disease' 'oophoritis' SubClassOf 'ovarian disease' 'oophoritis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1001070 ocular tuberculosis 'ocular tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_1001078 orchitis 'orchitis' SubClassOf 'testicular disease' 'orchitis' SubClassOf 'inflammatory disease' 'orchitis' SubClassOf 'testicular disease' 'orchitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1001076 orbital cellulitis 'orbital cellulitis' SubClassOf 'cellulitis' 'orbital cellulitis' SubClassOf 'cellulitis' http://www.ebi.ac.uk/efo/EFO_1001082 panuveitis 'panuveitis' SubClassOf 'uveitis' 'panuveitis' SubClassOf 'uveitis' http://www.ebi.ac.uk/efo/EFO_1001081 panophthalmitis 'panophthalmitis' SubClassOf 'scleritis' 'panophthalmitis' SubClassOf 'scleritis' http://www.ebi.ac.uk/efo/EFO_1001080 Pancoast tumor 'Pancoast tumor' SubClassOf 'lung cancer' 'Pancoast tumor' SubClassOf 'lung cancer' http://www.ebi.ac.uk/efo/EFO_1001088 pars planitis 'pars planitis' SubClassOf 'intermediate uveitis' 'pars planitis' SubClassOf 'intermediate uveitis' http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma 'parathyroid adenoma' SubClassOf 'benign neoplasm of parathyroid gland' 'parathyroid adenoma' SubClassOf 'adenoma' 'parathyroid adenoma' SubClassOf 'benign neoplasm of parathyroid gland' 'parathyroid adenoma' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_1001094 penile neoplasm 'penile neoplasm' SubClassOf 'penile disorder' 'penile neoplasm' SubClassOf 'penile disorder' http://www.ebi.ac.uk/efo/EFO_1001092 patellofemoral pain syndrome 'patellofemoral pain syndrome' SubClassOf 'joint disease' 'patellofemoral pain syndrome' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1001099 perinephritis 'perinephritis' SubClassOf 'inflammatory disease' 'perinephritis' SubClassOf 'kidney disease' 'perinephritis' SubClassOf 'inflammatory disease' 'perinephritis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001098 pericoronitis 'pericoronitis' SubClassOf 'gingival disease' 'pericoronitis' SubClassOf 'gingival disease' http://www.ebi.ac.uk/efo/EFO_1001204 sweat gland neoplasm 'sweat gland neoplasm' SubClassOf 'sweat gland disease' 'sweat gland neoplasm' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1001208 tarsal tunnel syndrome 'tarsal tunnel syndrome' SubClassOf 'tibial neuropathy' 'tarsal tunnel syndrome' SubClassOf 'tibial neuropathy' http://www.ebi.ac.uk/efo/EFO_1001206 syphilitic aortitis 'syphilitic aortitis' SubClassOf 'syphilis' 'syphilitic aortitis' SubClassOf 'syphilis' http://www.ebi.ac.uk/efo/EFO_1001214 tonsil cancer 'tonsil cancer' SubClassOf 'Waldeyer's ring cancer' 'tonsil cancer' SubClassOf 'tonsil neoplasm' 'tonsil cancer' SubClassOf 'Waldeyer's ring cancer' 'tonsil cancer' SubClassOf 'tonsil neoplasm' http://www.ebi.ac.uk/efo/EFO_1001212 thyroid crisis 'thyroid crisis' SubClassOf 'Hyperthyroidism' 'thyroid crisis' SubClassOf 'Hyperthyroidism' http://www.ebi.ac.uk/efo/EFO_1001219 trigeminal neuralgia 'trigeminal neuralgia' SubClassOf 'trigeminal nerve disease' 'trigeminal neuralgia' SubClassOf 'trigeminal nerve disease' http://www.ebi.ac.uk/efo/EFO_1001216 tooth disease 'tooth disease' SubClassOf 'mouth disease' 'tooth disease' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_1001225 Ureaplasma urealyticum urethritis 'Ureaplasma urealyticum urethritis' SubClassOf 'urethritis' 'Ureaplasma urealyticum urethritis' SubClassOf 'urethritis' http://www.ebi.ac.uk/efo/EFO_1001223 ulcerative proctosigmoiditis 'ulcerative proctosigmoiditis' SubClassOf 'inflammatory bowel disease' 'ulcerative proctosigmoiditis' SubClassOf 'inflammatory bowel disease' http://www.ebi.ac.uk/efo/EFO_1001222 type III hypersensitivity reaction disease 'type III hypersensitivity reaction disease' SubClassOf 'hypersensitivity reaction disease' 'type III hypersensitivity reaction disease' SubClassOf 'hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_1001229 maculopapular cutaneous mastocytosis 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' http://www.ebi.ac.uk/efo/EFO_1001228 ureterolithiasis 'ureterolithiasis' SubClassOf 'ureteral disorder' 'ureterolithiasis' SubClassOf 'ureteral disorder' http://www.ebi.ac.uk/efo/EFO_1001227 ureterocele 'ureterocele' SubClassOf 'ureteral disorder' 'ureterocele' SubClassOf 'ureteral disorder' http://www.ebi.ac.uk/efo/EFO_1001237 vitamin A deficiency 'vitamin A deficiency' SubClassOf 'vitamin deficiency disorder' 'vitamin A deficiency' SubClassOf 'vitamin deficiency disorder' http://www.ebi.ac.uk/efo/EFO_1001236 viral meningitis 'viral meningitis' SubClassOf 'infectious meningitis' 'viral meningitis' SubClassOf 'infectious meningitis' http://www.ebi.ac.uk/efo/EFO_1001232 uveoparotid fever 'uveoparotid fever' SubClassOf 'Sarcoidosis' 'uveoparotid fever' SubClassOf 'sarcoidosis' 'uveoparotid fever' SubClassOf 'sarcoidosis' 'uveoparotid fever' SubClassOf 'has_disease_location' some 'lung' 'uveoparotid fever' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_1001231 uveitis 'uveitis' SubClassOf 'uveal disorder' 'uveitis' SubClassOf 'inflammatory disease' 'uveitis' SubClassOf 'uveal disorder' 'uveitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1001239 vulvitis 'vulvitis' SubClassOf 'inflammatory disease' 'vulvitis' SubClassOf 'vulvar disease' 'vulvitis' SubClassOf 'inflammatory disease' 'vulvitis' SubClassOf 'vulvar disease' http://www.ebi.ac.uk/efo/EFO_1001240 vulvovaginitis 'vulvovaginitis' SubClassOf 'vulvitis' 'vulvovaginitis' SubClassOf 'vulvitis' http://www.ebi.ac.uk/efo/EFO_1001246 Yersinia pseudotuberculosis infectious disease 'Yersinia pseudotuberculosis infectious disease' SubClassOf 'Yersinia infectious disease' 'Yersinia pseudotuberculosis infectious disease' SubClassOf 'Yersinia infectious disease' http://www.ebi.ac.uk/efo/EFO_1001245 Yersinia infectious disease 'Yersinia infectious disease' SubClassOf 'bacterial disease' 'Yersinia infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001244 xanthogranulomatous pyelonephritis 'xanthogranulomatous pyelonephritis' SubClassOf 'chronic pyelonephritis' 'xanthogranulomatous pyelonephritis' SubClassOf 'chronic pyelonephritis' http://www.ebi.ac.uk/efo/EFO_1001242 Wernicke-Korsakoff syndrome 'Wernicke-Korsakoff syndrome' SubClassOf 'nutritional deficiency disease' 'Wernicke-Korsakoff syndrome' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_1001241 Wernicke encephalopathy 'Wernicke encephalopathy' SubClassOf 'brain disease' 'Wernicke encephalopathy' SubClassOf 'brain disease' http://www.orpha.net/ORDO/Orphanet_308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001257 acute erythroblastic leukemia 'acute erythroblastic leukemia' SubClassOf 'inherited acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_308380 Methylcobalamin deficiency type cblDv1 'Methylcobalamin deficiency type cblDv1' SubClassOf 'Homocystinuria without methylmalonic aciduria' 'Methylcobalamin deficiency type cblDv1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001254 noise-induced hearing loss 'noise-induced hearing loss' SubClassOf 'hearing loss' 'noise-induced hearing loss' SubClassOf 'hearing loss' http://www.ebi.ac.uk/efo/EFO_1001260 alcoholic psychosis 'alcoholic psychosis' SubClassOf 'alcohol-related disorders' 'alcoholic psychosis' SubClassOf 'alcohol-related disorders' http://www.orpha.net/ORDO/Orphanet_308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001266 Aniseikonia 'Aniseikonia' SubClassOf 'refractive error' 'Aniseikonia' SubClassOf 'refractive error' http://www.orpha.net/ORDO/Orphanet_2078 Geroderma osteodysplastica 'Geroderma osteodysplastica' SubClassOf 'Cutis laxa' 'Geroderma osteodysplastica' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Geroderma osteodysplastica' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2075 Genito-palato-cardiac syndrome 'Genito-palato-cardiac syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Genito-palato-cardiac syndrome' SubClassOf 'Orofacial clefting syndrome' 'Genito-palato-cardiac syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2088 Glycogen storage disease due to GLUT2 deficiency 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Rare metabolic liver disease' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Glucose transport disorder' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2087 Glomerulonephritis - sparse hair - telangiectasis 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'Primary glomerular disease' 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'Genetic glomerular disease' http://www.orpha.net/ORDO/Orphanet_2084 Glaucoma - ectopia - microspherophakia - stiff joints - short stature 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'Lens size anomaly' 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'Genetic lens and zonula anomaly' http://www.orpha.net/ORDO/Orphanet_2083 Prominent glabella - microcephaly - hypogenitalism 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2098 Acromesomelic dysplasia, Grebe type 'Acromesomelic dysplasia, Grebe type' SubClassOf 'Acromesomelic dysplasia' 'Acromesomelic dysplasia, Grebe type' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_97548 Ivemark syndrome 'Ivemark syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ivemark syndrome' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_97556 Congenital and infantile nephrotic syndrome 'Congenital and infantile nephrotic syndrome' SubClassOf 'Primary glomerular disease' 'Congenital and infantile nephrotic syndrome' SubClassOf 'Genetic glomerular disease' http://www.orpha.net/ORDO/Orphanet_97555 Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2092 Focal dermal hypoplasia 'Focal dermal hypoplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Focal dermal hypoplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Focal dermal hypoplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Focal dermal hypoplasia' SubClassOf 'Lens shape anomaly' 'Focal dermal hypoplasia' SubClassOf 'Genetic mixed dermis disorder' 'Focal dermal hypoplasia' SubClassOf 'Malformation syndrome with hamartosis' 'Focal dermal hypoplasia' SubClassOf 'Connective tissue disease with eye involvement' 'Focal dermal hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' 'Focal dermal hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2091 Multinodular goiter - cystic kidney - polydactyly 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0000919 ampulla of vater cancer 'ampulla of vater cancer' SubClassOf 'duodenum cancer' 'ampulla of vater cancer' SubClassOf 'ampulla of vater neoplasm' 'ampulla of vater cancer' SubClassOf 'duodenum cancer' 'ampulla of vater cancer' SubClassOf 'ampulla of vater neoplasm' http://www.orpha.net/ORDO/Orphanet_2031 Hepatic fibrosis - renal cysts - intellectual disability 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Familial cystic renal disease' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Genetic parenchymatous liver disease' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'kidney disease' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'has_disease_location' some 'kidney' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Rare genetic renal disease' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Rare genetic hepatic disease' http://www.orpha.net/ORDO/Orphanet_2036 Scalp-ear-nipple syndrome 'Scalp-ear-nipple syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Scalp-ear-nipple syndrome' SubClassOf 'Genetic mixed dermis disorder' 'Scalp-ear-nipple syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Scalp-ear-nipple syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000923 interstitial emphysema 'interstitial emphysema' SubClassOf 'emphysema' 'interstitial emphysema' SubClassOf 'emphysema' http://purl.obolibrary.org/obo/MONDO_0000921 ampulla of vater neoplasm 'ampulla of vater neoplasm' SubClassOf 'tumor of duodenum' 'ampulla of vater neoplasm' SubClassOf 'tumor of duodenum' http://purl.obolibrary.org/obo/MONDO_0000920 duodenum cancer 'duodenum cancer' SubClassOf 'tumor of duodenum' 'duodenum cancer' SubClassOf 'tumor of duodenum' http://purl.obolibrary.org/obo/MONDO_0000924 compensatory emphysema 'compensatory emphysema' SubClassOf 'emphysema' 'compensatory emphysema' SubClassOf 'emphysema' http://www.orpha.net/ORDO/Orphanet_2044 Floating-Harbor syndrome 'Floating-Harbor syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Floating-Harbor syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Floating-Harbor syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Floating-Harbor syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2042 Tracheo-esophageal fistula - hypospadias 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Larynx anomaly' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Tracheal anomaly' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Rare otorhinolaryngological malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Genetic urogenital tract malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Genetic respiratory or mediastinal malformation' http://purl.obolibrary.org/obo/MONDO_0000931 endometrial disorder 'endometrial disorder' SubClassOf 'uterine disorder' 'endometrial disorder' SubClassOf 'uterine disorder' http://www.orpha.net/ORDO/Orphanet_2057 Blepharophimosis - ptosis - esotropia - syndactyly - short stature 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Ptosis' 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Kinetic eyelid anomaly' http://www.orpha.net/ORDO/Orphanet_2056 Essential fructosuria 'Essential fructosuria' SubClassOf 'Disorder of fructose metabolism' 'Essential fructosuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2053 Freeman-Sheldon syndrome 'Freeman-Sheldon syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Freeman-Sheldon syndrome' SubClassOf 'syndromic disease' 'Freeman-Sheldon syndrome' SubClassOf 'Distal arthrogryposis' 'Freeman-Sheldon syndrome' SubClassOf 'syndromic disease' 'Freeman-Sheldon syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://purl.obolibrary.org/obo/MONDO_0000945 venous insufficiency 'venous insufficiency' SubClassOf 'vein disorder' 'venous insufficiency' SubClassOf 'vein disorder' http://purl.obolibrary.org/obo/MONDO_0000944 cerebral artery occlusion 'cerebral artery occlusion' SubClassOf 'cerebrovascular disorder' 'cerebral artery occlusion' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0000949 conjunctival degeneration 'conjunctival degeneration' SubClassOf 'Conjunctival Disorder' 'conjunctival degeneration' SubClassOf 'Conjunctival Disorder' http://www.orpha.net/ORDO/Orphanet_2067 GAPO syndrome 'GAPO syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'GAPO syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'GAPO syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'GAPO syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'GAPO syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'GAPO syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2066 Gamma-aminobutyric acid transaminase deficiency 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Neurometabolic disease' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Disorder of beta and omega amino acid metabolism' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2064 Posterior fusion of lumbosacral vertebrae - blepharoptosis 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2063 Splenogonadal fusion - limb defects - micrognathia 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Syndromic visceral malformation' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' http://www.orpha.net/ORDO/Orphanet_2062 Progressive non-infectious anterior vertebral fusion 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Progressive non-infectious anterior vertebral fusion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2069 Gastrocutaneous syndrome 'Gastrocutaneous syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Gastrocutaneous syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2118 Hawkinsinuria 'Hawkinsinuria' SubClassOf 'Disorder of tyrosine metabolism' 'Hawkinsinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012944 chromosome 17P13.3, telomeric, duplication syndrome 'chromosome 17P13.3, telomeric, duplication syndrome' SubClassOf 'non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_2114 Hip dysplasia, Beukes type 'Hip dysplasia, Beukes type' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Hip dysplasia, Beukes type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012948 chromosome 6pter-p24 deletion syndrome 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_262201 Partial duplication of chromosome 3 'Partial duplication of chromosome 3' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308407 Disorder of beta and omega amino acid metabolism 'Disorder of beta and omega amino acid metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of beta and omega amino acid metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2128 Hemihypertrophy 'Hemihypertrophy' SubClassOf 'Macroglossia' 'Hemihypertrophy' SubClassOf 'Overgrowth syndrome' 'Hemihypertrophy' SubClassOf 'Genetic overgrowth/obesity syndrome' http://www.orpha.net/ORDO/Orphanet_2134 Atypical hemolytic-uremic syndrome 'Atypical hemolytic-uremic syndrome' SubClassOf 'Rare constitutional hemolytic anemia' 'Atypical hemolytic-uremic syndrome' SubClassOf 'Genetic thrombotic microangiopathy' 'Atypical hemolytic-uremic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2133 Hemoglobin E disease 'Hemoglobin E disease' SubClassOf 'Hemoglobinopathy' 'Hemoglobin E disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2132 Hemoglobin C disease 'Hemoglobin C disease' SubClassOf 'Hemoglobinopathy' 'Hemoglobin C disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2131 Alternating hemiplegia of childhood 'Alternating hemiplegia of childhood' SubClassOf 'Alternating hemiplegia' 'Alternating hemiplegia of childhood' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2130 Hemimelia 'Hemimelia' SubClassOf 'Non-syndromic limb reduction defect' 'Hemimelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009318 Hallermann-Streiff syndrome 'Hallermann-Streiff syndrome' SubClassOf 'genetic disorder' 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800063 http://purl.obolibrary.org/obo/MONDO_0010305 creatine transporter deficiency 'creatine transporter deficiency' SubClassOf 'neurometabolic disease' 'creatine transporter deficiency' SubClassOf 'neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_2145 Craniosynostosis, Herrmann-Opitz type 'Craniosynostosis, Herrmann-Opitz type' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis, Herrmann-Opitz type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2141 Diaphragmatic defect - limb deficiency - skull defect 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0000995 familial periodic paralysis 'familial periodic paralysis' SubClassOf 'metabolic myopathy' 'familial periodic paralysis' SubClassOf 'metabolic myopathy' http://www.orpha.net/ORDO/Orphanet_2149 Nodular neuronal heterotopia 'Nodular neuronal heterotopia' SubClassOf 'Non-syndromic cerebral malformation due to abnormal neuronal migration' 'Nodular neuronal heterotopia' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Nodular neuronal heterotopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2148 Lissencephaly type 1 due to doublecortin gene mutation 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'X-linked syndromic intellectual disability' 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'Classic lissencephaly' 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009320 Hall-Riggs syndrome 'Hall-Riggs syndrome' SubClassOf 'syndromic intellectual disability' 'Hall-Riggs syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010310 osteopathia striata with cranial sclerosis 'osteopathia striata with cranial sclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0012982 episodic ataxia type 6 'episodic ataxia type 6' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 6' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0010336 orofaciodigital syndrome VIII 'orofaciodigital syndrome VIII' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome VIII' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0012999 guanidinoacetate methyltransferase deficiency 'guanidinoacetate methyltransferase deficiency' SubClassOf 'neurometabolic disease' 'guanidinoacetate methyltransferase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009341 Mowat-Wilson syndrome 'Mowat-Wilson syndrome' SubClassOf 'syndromic intellectual disability' 'Mowat-Wilson syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012992 pancreatic insufficiency-anemia-hyperostosis syndrome 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'exocrine pancreatic insufficiency' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'cytochrome-c oxidase deficiency disease' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'congenital dyserythropoietic anemia' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'exocrine pancreatic insufficiency' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'cytochrome-c oxidase deficiency disease' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'congenital dyserythropoietic anemia' http://www.orpha.net/ORDO/Orphanet_97593 Pseudohypoparathyroidism 'Pseudohypoparathyroidism' SubClassOf 'Genetic renal tubular disease' 'Pseudohypoparathyroidism' SubClassOf 'Developmental anomaly of metabolic origin' 'Pseudohypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' 'Pseudohypoparathyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010359 Dent disease type 2 'Dent disease type 2' SubClassOf 'Dent disease' 'Dent disease type 2' SubClassOf 'Dent disease' http://www.orpha.net/ORDO/Orphanet_262206 Partial duplication of chromosome 4 'Partial duplication of chromosome 4' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009372 encephalopathy due to hydroxykynureninuria 'encephalopathy due to hydroxykynureninuria' SubClassOf 'inborn disorder of tryptophan metabolism' 'encephalopathy due to hydroxykynureninuria' SubClassOf 'inborn disorder of tryptophan metabolism' http://purl.obolibrary.org/obo/MONDO_0009371 3-hydroxyisobutyric aciduria '3-hydroxyisobutyric aciduria' SubClassOf 'inherited amino acid metabolic disorder' '3-hydroxyisobutyric aciduria' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009370 L-2-hydroxyglutaric aciduria 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://www.orpha.net/ORDO/Orphanet_262211 Partial trisomy/tetrasomy of chromosome 5 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308487 Generalized galactose epimerase deficiency 'Generalized galactose epimerase deficiency' SubClassOf 'Galactose epimerase deficiency' 'Generalized galactose epimerase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001158 retinopathy of prematurity 'retinopathy of prematurity' SubClassOf 'retinopathy' 'retinopathy of prematurity' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1001156 retinal vasculitis 'retinal vasculitis' SubClassOf 'retinal vascular disorder' 'retinal vasculitis' SubClassOf 'vasculitis' 'retinal vasculitis' SubClassOf 'retinal vascular disorder' 'retinal vasculitis' SubClassOf 'vasculitis' http://www.ebi.ac.uk/efo/EFO_1001154 retinal artery occlusion 'retinal artery occlusion' SubClassOf 'retinal vascular occlusion' 'retinal artery occlusion' SubClassOf 'retinal vascular occlusion' http://www.ebi.ac.uk/efo/EFO_1001153 renovascular hypertension 'renovascular hypertension' SubClassOf 'renal hypertension' 'renovascular hypertension' SubClassOf 'renal hypertension' http://www.orpha.net/ORDO/Orphanet_178464 Hereditary proximal myopathy with early respiratory failure 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Qualitative or quantitative defects of titin' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Progressive muscular dystrophy' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Inclusion myopathy' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_178469 Autosomal dominant non-syndromic intellectual disability 'Autosomal dominant non-syndromic intellectual disability' SubClassOf 'Rare intellectual disability without developmental anomaly' 'Autosomal dominant non-syndromic intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001163 root caries 'root caries' SubClassOf 'enamel caries' 'root caries' SubClassOf 'enamel caries' http://www.ebi.ac.uk/efo/EFO_1001162 rickettsiosis 'rickettsiosis' SubClassOf 'gram-negative bacterial infections' 'rickettsiosis' SubClassOf 'bacterial disease' 'rickettsiosis' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_166463 Epilepsy syndrome 'Epilepsy syndrome' SubClassOf 'Rare genetic epilepsy' 'Epilepsy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009388 hyperlysinemia 'hyperlysinemia' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' 'hyperlysinemia' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' http://purl.obolibrary.org/obo/MONDO_0009395 hyperostosis corticalis generalisata 'hyperostosis corticalis generalisata' SubClassOf 'hyperostosis' 'hyperostosis corticalis generalisata' SubClassOf 'genetic disorder' 'hyperostosis corticalis generalisata' SubClassOf 'hyperostosis' 'hyperostosis corticalis generalisata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0009394 juvenile Paget disease 'juvenile Paget disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0010379 Brunner syndrome 'Brunner syndrome' SubClassOf 'neurometabolic disease' 'Brunner syndrome' SubClassOf 'neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_1001173 secondary hyperparathyroidism 'secondary hyperparathyroidism' SubClassOf 'hyperparathyroidism' 'secondary hyperparathyroidism' SubClassOf 'hyperparathyroidism' http://www.ebi.ac.uk/efo/EFO_1001172 sebaceous gland neoplasm 'sebaceous gland neoplasm' SubClassOf 'epidermal appendage tumor' 'sebaceous gland neoplasm' SubClassOf 'epidermal appendage tumor' http://www.ebi.ac.uk/efo/EFO_1001171 sebaceous adenocarcinoma 'sebaceous adenocarcinoma' SubClassOf 'adenocarcinoma' 'sebaceous adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_308463 Disorder of fructose metabolism 'Disorder of fructose metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of fructose metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001179 sialadenitis 'sialadenitis' SubClassOf 'salivary gland disease' 'sialadenitis' SubClassOf 'salivary gland disease' http://www.ebi.ac.uk/efo/EFO_1001178 shoulder impingement syndrome 'shoulder impingement syndrome' SubClassOf 'joint disease' 'shoulder impingement syndrome' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0009397 neonatal severe primary hyperparathyroidism 'neonatal severe primary hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800096 'neonatal severe primary hyperparathyroidism' SubClassOf 'hereditary disorder of connective tissue' 'neonatal severe primary hyperparathyroidism' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome 'fragile X syndrome' SubClassOf 'motor stereotypies' 'fragile X syndrome' SubClassOf 'motor stereotypies' http://www.orpha.net/ORDO/Orphanet_308467 Disorder of galactose metabolism 'Disorder of galactose metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of galactose metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010382 fragile X-associated tremor/ataxia syndrome 'fragile X-associated tremor/ataxia syndrome' SubClassOf 'syndromic disease' 'fragile X-associated tremor/ataxia syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001182 silo filler's disease 'silo filler's disease' SubClassOf 'lung disease' 'silo filler's disease' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_1001180 sialolithiasis 'sialolithiasis' SubClassOf 'salivary gland disease' 'sialolithiasis' SubClassOf 'salivary gland disease' http://www.orpha.net/ORDO/Orphanet_308473 Erythrocyte galactose epimerase deficiency 'Erythrocyte galactose epimerase deficiency' SubClassOf 'Galactose epimerase deficiency' 'Erythrocyte galactose epimerase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001189 spermatocele 'spermatocele' SubClassOf 'male reproductive system disease' 'spermatocele' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1001186 Sneddon syndrome 'Sneddon syndrome' SubClassOf 'skin vascular disease' 'Sneddon syndrome' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0010390 ocular albinism with late-onset sensorineural deafness 'ocular albinism with late-onset sensorineural deafness' SubClassOf 'ocular albinism' 'ocular albinism with late-onset sensorineural deafness' SubClassOf 'ocular albinism' http://www.ebi.ac.uk/efo/EFO_1001194 subacute thyroiditis 'subacute thyroiditis' SubClassOf 'thyroiditis' 'subacute thyroiditis' SubClassOf 'thyroiditis' http://www.ebi.ac.uk/efo/EFO_1001193 subacute bacterial endocarditis 'subacute bacterial endocarditis' SubClassOf 'infective endocarditis' 'subacute bacterial endocarditis' SubClassOf 'infective endocarditis' http://www.orpha.net/ORDO/Orphanet_308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001190 splenic infarction 'splenic infarction' SubClassOf 'splenic disease' 'splenic infarction' SubClassOf 'splenic disease' http://www.ebi.ac.uk/efo/EFO_1001198 substernal goiter 'substernal goiter' SubClassOf 'goiter' 'substernal goiter' SubClassOf 'goiter' http://www.orpha.net/ORDO/Orphanet_308448 Aminoacylase deficiency 'Aminoacylase deficiency' SubClassOf 'Cerebral organic aciduria' 'Aminoacylase deficiency' SubClassOf 'Organic aciduria' http://www.orpha.net/ORDO/Orphanet_308451 Disorder of neutral amino acid transport 'Disorder of neutral amino acid transport' SubClassOf 'Disorder of amino acid absorption and transport' 'Disorder of neutral amino acid transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308459 Disorder of glycolysis 'Disorder of glycolysis' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of glycolysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'Methylmalonic acidemia without homocystinuria' 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178400 Distal myopathy with anterior tibial onset 'Distal myopathy with anterior tibial onset' SubClassOf 'Autosomal recessive distal myopathy' 'Distal myopathy with anterior tibial onset' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Distal myopathy with anterior tibial onset' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_187 Citrullinemia 'Citrullinemia' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Citrullinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_36899 Myoclonus-dystonia syndrome 'Myoclonus-dystonia syndrome' SubClassOf 'Persistent combined dystonia' 'Myoclonus-dystonia syndrome' SubClassOf 'primary myoclonus' 'Myoclonus-dystonia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_184 Cherubism 'Cherubism' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Cherubism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cherubism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_180 Choroideremia 'Choroideremia' SubClassOf 'Unclassified familial retinal dystrophy' 'Choroideremia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_357027 Familial retinoblastoma 'Familial retinoblastoma' SubClassOf 'Retinoblastoma' 'Familial retinoblastoma' SubClassOf 'retinopathy' 'Familial retinoblastoma' SubClassOf 'has_disease_location' some 'eye' http://www.orpha.net/ORDO/Orphanet_198 Occipital horn syndrome 'Occipital horn syndrome' SubClassOf 'Cutis laxa' 'Occipital horn syndrome' SubClassOf 'Disorder of copper metabolism' 'Occipital horn syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Occipital horn syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_195 Cat-eye syndrome 'Cat-eye syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Cat-eye syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cat-eye syndrome' SubClassOf 'Syndromic anorectal malformation' 'Cat-eye syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Cat-eye syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Cat-eye syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_357034 Unilateral retinoblastoma 'Unilateral retinoblastoma' SubClassOf 'Retinoblastoma' 'Unilateral retinoblastoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370015 Spondyloepimetaphyseal dysplasia, Isidor type 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_357043 Amyotrophic lateral sclerosis type 4 'Amyotrophic lateral sclerosis type 4' SubClassOf 'Genetic neurodegenerative disease' 'Amyotrophic lateral sclerosis type 4' SubClassOf 'familial amyotrophic lateral sclerosis' 'Amyotrophic lateral sclerosis type 4' SubClassOf 'Genetic motor neuron disease' 'Amyotrophic lateral sclerosis type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370002 Focal palmoplantar keratoderma with joint keratoses 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'Isolated focal palmoplantar keratoderma' 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_357058 Autosomal recessive cutis laxa type 2A 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Autosomal recessive cutis laxa type 2' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Defect in V-ATPase' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Autosomal recessive cutis laxa type 2A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Genetic overgrowth/obesity syndrome' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Rare genetic neurological disorder' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Rare genetic endocrine disease' http://www.orpha.net/ORDO/Orphanet_370034 Familial syringomyelia 'Familial syringomyelia' SubClassOf 'Rare genetic medullar disease' 'Familial syringomyelia' SubClassOf 'Primary syringomyelia' 'Familial syringomyelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_357064 Autosomal recessive cutis laxa type 2B 'Autosomal recessive cutis laxa type 2B' SubClassOf 'Autosomal recessive cutis laxa type 2' 'Autosomal recessive cutis laxa type 2B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308023 Disease with punctate palmoplantar keratoderma as a major feature 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'Punctate palmoplantar keratoderma' 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'hereditary palmoplantar keratoderma' 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'Genetic epidermal disorder' http://www.orpha.net/ORDO/Orphanet_357074 Autosomal recessive cutis laxa type 2, classic type 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'Autosomal recessive cutis laxa type 2A' 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_107 BOR syndrome 'BOR syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'BOR syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'BOR syndrome' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_105 Atresia of urethra 'Atresia of urethra' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Atresia of urethra' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95232 Lissencephaly due to LIS1 mutation 'Lissencephaly due to LIS1 mutation' SubClassOf 'Classic lissencephaly' 'Lissencephaly due to LIS1 mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_118 Beta-mannosidosis 'Beta-mannosidosis' SubClassOf 'Oligosaccharidosis' 'Beta-mannosidosis' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Beta-mannosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Beta-mannosidosis' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Beta-mannosidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_115 Congenital contractural arachnodactyly 'Congenital contractural arachnodactyly' SubClassOf 'Marfan and Marfan-related disorder' 'Congenital contractural arachnodactyly' SubClassOf 'Distal arthrogryposis' 'Congenital contractural arachnodactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_114 Auriculoosteodysplasia 'Auriculoosteodysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Auriculoosteodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis - epicanthus inversus - ptosis 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Ptosis' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Secondary ectropion' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Non-syndromic developmental defect of the eye' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Telecanthus' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Kinetic eyelid anomaly' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia 'Blackfan-Diamond anemia' SubClassOf 'Orofacial clefting syndrome' 'Blackfan-Diamond anemia' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_119 Autosomal recessive limb-girdle muscular dystrophy type 2E 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Qualitative or quantitative defects of beta-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation 'Congenital disorder of glycosylation' SubClassOf 'Inborn errors of metabolism' 'Congenital disorder of glycosylation' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'Congenital disorder of glycosylation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_136 CADASIL 'CADASIL' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_135 CACH syndrome 'CACH syndrome' SubClassOf 'Leukodystrophy' 'CACH syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_132 Butyrylcholinesterase deficiency 'Butyrylcholinesterase deficiency' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Butyrylcholinesterase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2396 Encephalocraniocutaneous lipomatosis 'Encephalocraniocutaneous lipomatosis' SubClassOf 'Genetic skin tumor' 'Encephalocraniocutaneous lipomatosis' SubClassOf 'Genetic soft tissue tumor' 'Encephalocraniocutaneous lipomatosis' SubClassOf 'benign neoplasm' 'Encephalocraniocutaneous lipomatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_148 Multiple carboxylase deficiency 'Multiple carboxylase deficiency' SubClassOf 'Metabolic disease with skin involvement' 'Multiple carboxylase deficiency' SubClassOf 'Classic organic aciduria' 'Multiple carboxylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2394 Pyruvate dehydrogenase E3 deficiency 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Mitochondrial myopathy' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Lipoic acid biosynthesis defect' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Malignant epithelial tumor of ovary' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Familial ovarian cancer' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Genital neoplasm, female' http://www.orpha.net/ORDO/Orphanet_140 Campomelic dysplasia 'Campomelic dysplasia' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Campomelic dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Campomelic dysplasia' SubClassOf 'Bent bone dysplasia' 'Campomelic dysplasia' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Campomelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_159 Carnitine-acylcarnitine translocase deficiency 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Carnitine-acylcarnitine translocase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_158 Systemic primary carnitine deficiency 'Systemic primary carnitine deficiency' SubClassOf 'Muscular lipidosis' 'Systemic primary carnitine deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Systemic primary carnitine deficiency' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' 'Systemic primary carnitine deficiency' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_157 Carnitine palmitoyltransferase II deficiency 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'Muscular lipidosis' 'Carnitine palmitoyltransferase II deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156 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://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_154 Familial isolated dilated cardiomyopathy 'Familial isolated dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Familial isolated dilated cardiomyopathy' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Familial isolated dilated cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_71289 Radio-ulnar synostosis - amegakaryocytic thrombocytopenia 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_169 Ringed hair disease 'Ringed hair disease' SubClassOf 'Isolated hair shaft abnormality' 'Ringed hair disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168 Loose anagen syndrome 'Loose anagen syndrome' SubClassOf 'Alopecia' 'Loose anagen syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome 'Chédiak-Higashi syndrome' SubClassOf 'Syndromic oculocutaneous albinism' 'Chédiak-Higashi syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Chédiak-Higashi syndrome' SubClassOf 'Dense granule disease' 'Chédiak-Higashi syndrome' SubClassOf 'inborn errors of metabolism' 'Chédiak-Higashi syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Chédiak-Higashi syndrome' SubClassOf 'Pigmentation disorder with eye involvement' 'Chédiak-Higashi syndrome' SubClassOf 'Platelet storage pool disease' 'Chédiak-Higashi syndrome' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_165 Neutral lipid storage disease 'Neutral lipid storage disease' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Neutral lipid storage disease' SubClassOf 'Muscular lipidosis' 'Neutral lipid storage disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163 Hereditary hyperferritinemia with congenital cataracts 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'Syndromic cataract' 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'Metabolic disease with cataract' 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_71278 Congenital brain dysgenesis due to glutamine synthetase deficiency 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'Neurometabolic disease' 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'Disorder of glutamine metabolism' 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_357001 19p13.13 microdeletion syndrome '19p13.13 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '19p13.13 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 19' '19p13.13 microdeletion syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' '19p13.13 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_179 Birdshot chorioretinopathy 'Birdshot chorioretinopathy' SubClassOf 'has_disease_location' some 'eye' 'Birdshot chorioretinopathy' SubClassOf 'retinopathy' 'Birdshot chorioretinopathy' SubClassOf 'has_disease_location' some 'immune system' 'Birdshot chorioretinopathy' SubClassOf 'immune system disease' 'Birdshot chorioretinopathy' SubClassOf 'uveitis' 'Birdshot chorioretinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178 Chordoma 'Chordoma' SubClassOf 'embryonal neoplasm' 'Chordoma' SubClassOf 'Genetic bone tumor' 'Chordoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_177 Rhizomelic chondrodysplasia punctata 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Musculoskeletal disease with cataract' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Peroxisomal disease' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Metabolic disease with cataract' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Neurometabolic disease' 'Rhizomelic chondrodysplasia punctata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_176 Non-rhizomelic chondrodysplasia punctata 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'Chondrodysplasia punctata' 'Non-rhizomelic chondrodysplasia punctata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_175 Cartilage-hair hypoplasia 'Cartilage-hair hypoplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cartilage-hair hypoplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Cartilage-hair hypoplasia' SubClassOf 'Immuno-osseous dysplasia' 'Cartilage-hair hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_174 Metaphyseal chondrodysplasia, Schmid type 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_357008 Atypical hemolytic-uremic syndrome with DGKE deficiency 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_172 Progressive familial intrahepatic cholestasis 'Progressive familial intrahepatic cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Progressive familial intrahepatic cholestasis' SubClassOf 'Familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_71270 Auriculoocular anomalies - cleft lip 'Auriculoocular anomalies - cleft lip' SubClassOf 'Orofacial clefting syndrome' 'Auriculoocular anomalies - cleft lip' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Auriculoocular anomalies - cleft lip' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_71277 Encephalopathy due to GLUT1 deficiency 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'Glucose transport disorder' 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to GLUT1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2475 White forelock with malformations 'White forelock with malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'White forelock with malformations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2479 Megalocornea-intellectual disability syndrome 'Megalocornea-intellectual disability syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Megalocornea-intellectual disability syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Megalocornea-intellectual disability syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Megalocornea-intellectual disability syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'Leukodystrophy' 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2476 Medeira-Dennis-Donnai syndrome 'Medeira-Dennis-Donnai syndrome' SubClassOf 'Orofacial clefting syndrome' 'Medeira-Dennis-Donnai syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2485 Melorheostosis 'Melorheostosis' SubClassOf 'Osteopetrosis' 'Melorheostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2484 Osteodysplasty, Melnick-Needles type 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012833 Crouzon syndrome-acanthosis nigricans syndrome 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'syndromic craniosynostosis' 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'autosomal dominant disease' 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'syndromic craniosynostosis' 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_2489 Upper limb defect - eye and ear abnormalities 'Upper limb defect - eye and ear abnormalities' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Upper limb defect - eye and ear abnormalities' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2487 Lower limb deficiency - hypospadias 'Lower limb deficiency - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Lower limb deficiency - hypospadias' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2497 Upper limb mesomelic dysplasia 'Upper limb mesomelic dysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Upper limb mesomelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2496 Mesomelia-synostoses syndrome 'Mesomelia-synostoses syndrome' SubClassOf 'Acromesomelic dysplasia' 'Mesomelia-synostoses syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' 'Mesomelia-synostoses syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2495 Meningioma 'Meningioma' SubClassOf 'has_disease_location' some 'meninx' 'Meningioma' SubClassOf 'meningeal neoplasm' 'Meningioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2491 Müllerian duct anomalies - limb anomalies 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Syndromic urogenital tract malformation' 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2499 Metachondromatosis 'Metachondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Metachondromatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2498 Syndactyly type 8 'Syndactyly type 8' SubClassOf 'Syndactyly' 'Syndactyly type 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2431 Central bilateral macrogyria 'Central bilateral macrogyria' SubClassOf 'Cerebral cortical dysplasia' 'Central bilateral macrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2430 Congenital macroglossia 'Congenital macroglossia' SubClassOf 'Macroglossia' 'Congenital macroglossia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis 'Farber lipogranulomatosis' SubClassOf 'sphingolipidosis' 'Farber lipogranulomatosis' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0009216 glycogen storage disease due to GLUT2 deficiency 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'glycogen storage disease' 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_2438 Hand-foot-genital syndrome 'Hand-foot-genital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hand-foot-genital syndrome' SubClassOf 'Syndrome with brachydactyly' 'Hand-foot-genital syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2437 Split hand - urinary anomalies - spina bifida 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Syndromic urogenital tract malformation' 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Genetic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0010209 xanthinuria type I 'xanthinuria type I' SubClassOf 'hereditary xanthinuria' 'xanthinuria type I' SubClassOf 'hereditary xanthinuria' http://www.orpha.net/ORDO/Orphanet_2432 Macrosomia - microphthalmia - cleft palate 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0010200 Wilson disease 'Wilson disease' SubClassOf 'supranuclear oculomotor palsy' 'Wilson disease' SubClassOf 'genetic peripheral neuropathy' 'Wilson disease' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'Wilson disease' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0010203 intellectual disability, Wolff type 'intellectual disability, Wolff type' SubClassOf 'syndromic intellectual disability' 'intellectual disability, Wolff type' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2429 Macrocephaly - spastic paraplegia - dysmorphism 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_2442 X-linked lymphoproliferative disease 'X-linked lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' 'X-linked lymphoproliferative disease' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_2440 Split hand-split foot malformation 'Split hand-split foot malformation' SubClassOf 'Split hand or/and split foot malformation' 'Split hand-split foot malformation' SubClassOf 'Terminal limb defects' http://purl.obolibrary.org/obo/MONDO_0009229 hyaline fibromatosis syndrome 'hyaline fibromatosis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010216 xeroderma pigmentosum group G 'xeroderma pigmentosum group G' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group G' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0010215 xeroderma pigmentosum group F 'xeroderma pigmentosum group F' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group F' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0010217 de Sanctis-Cacchione syndrome 'de Sanctis-Cacchione syndrome' SubClassOf 'genetic disorder' 'de Sanctis-Cacchione syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009222 Gollop-Wolfgang complex 'Gollop-Wolfgang complex' SubClassOf 'dysostosis of genetic origin' 'Gollop-Wolfgang complex' SubClassOf 'congenital limb malformation' 'Gollop-Wolfgang complex' SubClassOf 'non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_2445 Conotruncal heart malformations 'Conotruncal heart malformations' SubClassOf 'congenital heart malformation' 'Conotruncal heart malformations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009221 femur-fibula-ulna complex 'femur-fibula-ulna complex' SubClassOf 'congenital limb malformation' 'femur-fibula-ulna complex' SubClassOf 'dysostosis of genetic origin' 'femur-fibula-ulna complex' SubClassOf 'non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'Disorder of energy metabolism' http://purl.obolibrary.org/obo/MONDO_0010210 xeroderma pigmentosum group A 'xeroderma pigmentosum group A' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group A' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0010212 xeroderma pigmentosum group D 'xeroderma pigmentosum group D' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group D' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0010211 xeroderma pigmentosum group C 'xeroderma pigmentosum group C' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group C' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0012876 heparin cofactor 2 deficiency 'heparin cofactor 2 deficiency' SubClassOf 'inherited thrombophilia' 'heparin cofactor 2 deficiency' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'spondyloepiphyseal dysplasia' 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010213 xeroderma pigmentosum group E 'xeroderma pigmentosum group E' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group E' SubClassOf 'xeroderma pigmentosum' http://www.orpha.net/ORDO/Orphanet_2451 Mucocutaneous venous malformations 'Mucocutaneous venous malformations' SubClassOf 'Genetic vascular anomaly' 'Mucocutaneous venous malformations' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2457 Mandibuloacral dysplasia 'Mandibuloacral dysplasia' SubClassOf 'Familial partial lipodystrophy' 'Mandibuloacral dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Mandibuloacral dysplasia' SubClassOf 'Primary osteolysis' 'Mandibuloacral dysplasia' SubClassOf 'progeroid syndrome' 'Mandibuloacral dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009232 Fuhrmann syndrome 'Fuhrmann syndrome' SubClassOf 'dysostosis of genetic origin' 'Fuhrmann syndrome' SubClassOf 'congenital limb malformation' 'Fuhrmann syndrome' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0009231 acromesomelic dysplasia 2B 'acromesomelic dysplasia 2B' SubClassOf 'autosomal recessive disease' 'acromesomelic dysplasia 2B' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 2B' SubClassOf 'autosomal recessive disease' 'acromesomelic dysplasia 2B' SubClassOf 'acromesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2454 Familial intestinal malrotation - facial anomalies 'Familial intestinal malrotation - facial anomalies' SubClassOf 'Syndromic intestinal malformation' 'Familial intestinal malrotation - facial anomalies' SubClassOf 'Genetic digestive tract malformation' http://purl.obolibrary.org/obo/MONDO_0009241 fountain syndrome 'fountain syndrome' SubClassOf 'syndromic intellectual disability' 'fountain syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010221 CHIME syndrome 'CHIME syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'CHIME syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010225 Dent disease type 1 'Dent disease type 1' SubClassOf 'Dent disease' 'Dent disease type 1' SubClassOf 'Dent disease' http://www.orpha.net/ORDO/Orphanet_2464 Marfanoid syndrome, De Silva type 'Marfanoid syndrome, De Silva type' SubClassOf 'Syndromic intestinal malformation' 'Marfanoid syndrome, De Silva type' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis 'Neuronal ceroid lipofuscinosis' SubClassOf 'Neurometabolic disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Genetic neurodegenerative disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Lysosomal disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Neuronal ceroid lipofuscinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2463 Marfanoid habitus - intellectual disability, autosomal recessive 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_215 Congenital stationary night blindness 'Congenital stationary night blindness' SubClassOf 'Unclassified familial retinal dystrophy' 'Congenital stationary night blindness' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_214 Cystinuria 'Cystinuria' SubClassOf 'Genetic renal tubular disease' 'Cystinuria' SubClassOf 'Disorder of amino acid absorption and transport' 'Cystinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_213 Cystinosis 'Cystinosis' SubClassOf 'Metabolic disease with corneal opacity' 'Cystinosis' SubClassOf 'Disorder of lysosomal amino acid transport' 'Cystinosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Cystinosis' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Cystinosis' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Cystinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2460 Van den Ende-Gupta syndrome 'Van den Ende-Gupta syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Van den Ende-Gupta syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Van den Ende-Gupta syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Van den Ende-Gupta syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_212 Cystathioninuria 'Cystathioninuria' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Cystathioninuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_211 Familial cylindromatosis 'Familial cylindromatosis' SubClassOf 'Brooke-Spiegler syndrome' 'Familial cylindromatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009249 hereditary fructose intolerance 'hereditary fructose intolerance' SubClassOf 'disorder of fructose metabolism' 'hereditary fructose intolerance' SubClassOf 'disorder of fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome 'brittle cornea syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'brittle cornea syndrome' SubClassOf 'corneal disease' 'brittle cornea syndrome' SubClassOf 'autosomal recessive disease' 'brittle cornea syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'brittle cornea syndrome' SubClassOf 'corneal disease' 'brittle cornea syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009252 essential fructosuria 'essential fructosuria' SubClassOf 'disorder of fructose metabolism' 'essential fructosuria' SubClassOf 'disorder of fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0009251 fructose-1,6-bisphosphatase deficiency 'fructose-1,6-bisphosphatase deficiency' SubClassOf 'disorder of fructose metabolism' 'fructose-1,6-bisphosphatase deficiency' SubClassOf 'disorder of fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0012897 congenital factor XI deficiency 'congenital factor XI deficiency' SubClassOf 'autosomal genetic disease' 'congenital factor XI deficiency' SubClassOf 'autosomal genetic disease' http://www.orpha.net/ORDO/Orphanet_209 Cutis laxa 'Cutis laxa' SubClassOf 'Congenital entropion' 'Cutis laxa' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Cutis laxa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Cutis laxa' SubClassOf 'Genetic dermis elastic tissue disorder' 'Cutis laxa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_207 Crouzon disease 'Crouzon disease' SubClassOf 'Syndromic craniosynostosis' 'Crouzon disease' SubClassOf 'Rare genetic bone development disorder' 'Crouzon disease' SubClassOf 'Rare genetic bone disease' 'Crouzon disease' SubClassOf 'Genetic cranial malformation' http://purl.obolibrary.org/obo/MONDO_0009259 gamma-glutamylcysteine synthetase deficiency 'gamma-glutamylcysteine synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' 'gamma-glutamylcysteine synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0010248 X-linked spondyloepimetaphyseal dysplasia 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'genetic disorder' 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency 'galactose epimerase deficiency' SubClassOf 'galactosemia' 'galactose epimerase deficiency' SubClassOf 'galactosemia' http://purl.obolibrary.org/obo/MONDO_0009254 fucosidosis 'fucosidosis' SubClassOf 'bone disease' 'fucosidosis' SubClassOf 'has modifier' some 'rare' 'fucosidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0009253 Fryns syndrome 'Fryns syndrome' SubClassOf 'syndromic intellectual disability' 'Fryns syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009263 gapo syndrome 'gapo syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'gapo syndrome' SubClassOf 'syndromic intellectual disability' 'gapo syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'gapo syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009260 GM1 gangliosidosis type 1 'GM1 gangliosidosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 http://www.orpha.net/ORDO/Orphanet_370079 Proximal 16p11.2 microduplication syndrome 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0009267 Gaucher disease type III 'Gaucher disease type III' SubClassOf 'Gaucher disease' 'Gaucher disease type III' SubClassOf 'Gaucher disease' http://purl.obolibrary.org/obo/MONDO_0009266 Gaucher disease type II 'Gaucher disease type II' SubClassOf 'Gaucher disease' 'Gaucher disease type II' SubClassOf 'Gaucher disease' http://purl.obolibrary.org/obo/MONDO_0009274 ghosal hematodiaphyseal dysplasia 'ghosal hematodiaphyseal dysplasia' SubClassOf 'bone disease' 'ghosal hematodiaphyseal dysplasia' SubClassOf 'genetic disorder' 'ghosal hematodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0009271 geroderma osteodysplastica 'geroderma osteodysplastica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://purl.obolibrary.org/obo/MONDO_0009279 triple-A syndrome 'triple-A syndrome' SubClassOf 'autosomal recessive disease' 'triple-A syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_2414 Congenital pulmonary lymphangiectasia 'Congenital pulmonary lymphangiectasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Congenital pulmonary lymphangiectasia' SubClassOf 'Syndromic lymphedema' 'Congenital pulmonary lymphangiectasia' SubClassOf 'Genetic interstitial lung disease' 'Congenital pulmonary lymphangiectasia' SubClassOf 'genetic skin disease' 'Congenital pulmonary lymphangiectasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2412 Dislocation of the hip - dysmorphism 'Dislocation of the hip - dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Dislocation of the hip - dysmorphism' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0009276 Bernard-Soulier syndrome 'Bernard-Soulier syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'Bernard-Soulier syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_2410 Hypergonadotropic hypogonadism - cataract syndrome 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Syndromic cataract' 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Rare cataract' http://purl.obolibrary.org/obo/MONDO_0009285 gamma-glutamyl transpeptidase deficiency 'gamma-glutamyl transpeptidase deficiency' SubClassOf 'inborn disorder of the gamma-glutamyl cycle' 'gamma-glutamyl transpeptidase deficiency' SubClassOf 'inborn disorder of the gamma-glutamyl cycle' http://purl.obolibrary.org/obo/MONDO_0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'congenital anemia' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'familial hemolytic anemia' http://www.orpha.net/ORDO/Orphanet_370097 Oculocutaneous albinism type 6 'Oculocutaneous albinism type 6' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria' 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria' http://purl.obolibrary.org/obo/MONDO_0010269 Coats disease 'Coats disease' SubClassOf 'retinal telangiectasia' 'Coats disease' SubClassOf 'retinal telangiectasia' http://purl.obolibrary.org/obo/MONDO_0010268 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'lissencephaly spectrum disorders' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'lissencephaly spectrum disorders' http://www.orpha.net/ORDO/Orphanet_2407 LOC syndrome 'LOC syndrome' SubClassOf 'Junctional epidermolysis bullosa' 'LOC syndrome' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'LOC syndrome' SubClassOf 'Genetic epidermal disorder' 'LOC syndrome' SubClassOf 'inherited epidermolysis bullosa' 'LOC syndrome' SubClassOf 'Genetic respiratory or mediastinal malformation' 'LOC syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_370091 Oculocutaneous albinism type 5 'Oculocutaneous albinism type 5' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2427 Macrocephaly - short stature - paraplegia 'Macrocephaly - short stature - paraplegia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly - short stature - paraplegia' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA 'glycogen storage disease due to glucose-6-phosphatase deficiency type IA' SubClassOf 'glycogen storage disease I' 'glycogen storage disease due to glucose-6-phosphatase deficiency type IA' SubClassOf 'glycogen storage disease I' http://purl.obolibrary.org/obo/MONDO_0009295 glycogen storage disease VII 'glycogen storage disease VII' SubClassOf 'glycogen storage disease' 'glycogen storage disease VII' SubClassOf 'glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_370088 Acute infantile liver failure-multisystemic involvement syndrome 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'Genetic parenchymatous liver disease' 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'Rare genetic hepatic disease' http://purl.obolibrary.org/obo/MONDO_0009294 glycogen storage disease VI 'glycogen storage disease VI' SubClassOf 'glycogen storage disease' 'glycogen storage disease VI' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V 'glycogen storage disease V' SubClassOf 'glycogen storage disease' 'glycogen storage disease V' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0010275 spondyloepimetaphyseal dysplasia, Bieganski type 'spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III 'glycogen storage disease III' SubClassOf 'glycogen storage disease' 'glycogen storage disease III' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0010279 terminal osseous dysplasia-pigmentary defects syndrome 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'filamin-related bone disorder' 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0009299 46 XX gonadal dysgenesis '46 XX gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '46 XX gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'osteopetrosis' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'osteopetrosis' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome 'Lesch-Nyhan syndrome' SubClassOf 'syndromic disease' 'Lesch-Nyhan syndrome' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' 'Lesch-Nyhan syndrome' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' 'Lesch-Nyhan syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency 'hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' 'hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' http://purl.obolibrary.org/obo/MONDO_0010294 X-linked severe congenital neutropenia 'X-linked severe congenital neutropenia' SubClassOf 'X-linked disease' 'X-linked severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' 'X-linked severe congenital neutropenia' SubClassOf 'X-linked disease' 'X-linked severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0010293 ectodermal dysplasia and immune deficiency 'ectodermal dysplasia and immune deficiency' SubClassOf 'hypohidrotic ectodermal dysplasia' 'ectodermal dysplasia and immune deficiency' SubClassOf 'hypohidrotic ectodermal dysplasia' http://www.orpha.net/ORDO/Orphanet_370109 Ataxia-telangiectasia variant 'Ataxia-telangiectasia variant' SubClassOf 'Persistent combined dystonia' 'Ataxia-telangiectasia variant' SubClassOf 'Rare genetic dystonia' http://purl.obolibrary.org/obo/MONDO_0010088 mucosulfatidosis 'mucosulfatidosis' SubClassOf 'sphingolipidosis' 'mucosulfatidosis' SubClassOf 'bone disease' 'mucosulfatidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800088 'mucosulfatidosis' SubClassOf 'sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_370114 Combined cervical dystonia 'Combined cervical dystonia' SubClassOf 'Persistent combined dystonia' 'Combined cervical dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010098 taurodontism 'taurodontism' SubClassOf 'genetic disorder' 'taurodontism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010099 Tay-Sachs disease AB variant 'Tay-Sachs disease AB variant' SubClassOf 'GM2 gangliosidosis' 'Tay-Sachs disease AB variant' SubClassOf 'GM2 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0010092 Filippi syndrome 'Filippi syndrome' SubClassOf 'syndromic intellectual disability' 'Filippi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 'Filippi syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010094 spondylocarpotarsal synostosis syndrome 'spondylocarpotarsal synostosis syndrome' SubClassOf 'genetic disorder' 'spondylocarpotarsal synostosis syndrome' SubClassOf 'filamin-related bone disorder' 'spondylocarpotarsal synostosis syndrome' SubClassOf 'bone development disease' 'spondylocarpotarsal synostosis syndrome' SubClassOf 'filamin-related bone disorder' http://www.orpha.net/ORDO/Orphanet_357158 Mandibulofacial dysostosis - macroblepharon - macrostomia 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Mandibulofacial dysostosis' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Rare otorhinolaryngological malformation' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Rare genetic bone development disorder' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_370131 White platelet syndrome 'White platelet syndrome' SubClassOf 'Alpha granule disease' 'White platelet syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139039 Orofacial clefting syndrome 'Orofacial clefting syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofacial clefting syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_357175 Short ulna - dysmorphism - hypotonia - intellectual disability 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_308166 Erythrokeratoderma variabilis progressiva 'Erythrokeratoderma variabilis progressiva' SubClassOf 'Genetic erythrokeratoderma' 'Erythrokeratoderma variabilis progressiva' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_213517 Familial ovarian cancer 'Familial ovarian cancer' SubClassOf 'Genital neoplasm, female' 'Familial ovarian cancer' SubClassOf 'Genetic gynecological tumor' 'Familial ovarian cancer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001004 kidney papillary necrosis 'kidney papillary necrosis' SubClassOf 'kidney disease' 'kidney papillary necrosis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001003 kidney cortex necrosis 'kidney cortex necrosis' SubClassOf 'kidney disease' 'kidney cortex necrosis' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_34149 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_disease_location' some 'kidney' 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'Familial cystic renal disease' 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001009 kwashiorkor 'kwashiorkor' SubClassOf 'protein energy malnutrition' 'kwashiorkor' SubClassOf 'protein energy malnutrition' http://www.ebi.ac.uk/efo/EFO_1001017 limited scleroderma 'limited scleroderma' SubClassOf 'systemic scleroderma' 'limited scleroderma' SubClassOf 'systemic scleroderma' http://www.ebi.ac.uk/efo/EFO_1001015 leukoplakia of penis 'leukoplakia of penis' SubClassOf 'penile disorder' 'leukoplakia of penis' SubClassOf 'penile disorder' http://www.ebi.ac.uk/efo/EFO_1001011 lateral medullary syndrome 'lateral medullary syndrome' SubClassOf 'brain stem infarction' 'lateral medullary syndrome' SubClassOf 'brain stem infarction' http://www.ebi.ac.uk/efo/EFO_1001019 lip cancer 'lip cancer' SubClassOf 'oral cavity cancer' 'lip cancer' SubClassOf 'lip neoplasm' 'lip cancer' SubClassOf 'oral cavity cancer' 'lip cancer' SubClassOf 'lip neoplasm' http://www.ebi.ac.uk/efo/EFO_1001018 lingual goiter 'lingual goiter' SubClassOf 'goiter' 'lingual goiter' SubClassOf 'goiter' http://www.ebi.ac.uk/efo/EFO_1001020 lipoid nephrosis 'lipoid nephrosis' SubClassOf 'glomerulonephritis' 'lipoid nephrosis' SubClassOf 'glomerulonephritis' http://www.ebi.ac.uk/efo/EFO_1001028 macular holes 'macular holes' SubClassOf 'retinopathy' 'macular holes' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1001023 lupus vulgaris 'lupus vulgaris' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_1001021 Listeria meningitis 'Listeria meningitis' SubClassOf 'bacterial meningitis' 'Listeria meningitis' SubClassOf 'bacterial meningitis' http://www.orpha.net/ORDO/Orphanet_139009 Developmental anomaly of metabolic origin 'Developmental anomaly of metabolic origin' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Developmental anomaly of metabolic origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001029 magnesium deficiency 'magnesium deficiency' SubClassOf 'nutritional deficiency disease' 'magnesium deficiency' SubClassOf 'nutritional deficiency disease' http://www.orpha.net/ORDO/Orphanet_213524 Hereditary site-specific ovarian cancer syndrome 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'Familial ovarian cancer' 'Hereditary site-specific ovarian cancer syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2272 Ichthyosis - oral and digital anomalies 'Ichthyosis - oral and digital anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2278 Ichthyosis - intellectual disability - dwarfism - renal impairment 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_2287 Fused mandibular incisors 'Fused mandibular incisors' SubClassOf 'Rare odontal or periodontal disorder' 'Fused mandibular incisors' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2286 Solitary median maxillary central incisor syndrome 'Solitary median maxillary central incisor syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Solitary median maxillary central incisor syndrome' SubClassOf 'Microform holoprosencephaly' 'Solitary median maxillary central incisor syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2282 Dysmorphism - short stature - deafness - disorder of sex development 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2289 Neuronal intranuclear inclusion disease 'Neuronal intranuclear inclusion disease' SubClassOf 'Genetic neurodegenerative disease' 'Neuronal intranuclear inclusion disease' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neuronal intranuclear inclusion disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2298 Insulin-resistance syndrome type B 'Insulin-resistance syndrome type B' SubClassOf 'Rare insulin-resistance syndrome' 'Insulin-resistance syndrome type B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2297 Insulin-resistance syndrome type A 'Insulin-resistance syndrome type A' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Insulin-resistance syndrome type A' SubClassOf 'Rare insulin-resistance syndrome' 'Insulin-resistance syndrome type A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2292 Congenital bowing of long bones 'Congenital bowing of long bones' SubClassOf 'Congenital deformities of limbs' 'Congenital bowing of long bones' SubClassOf 'Bent bone dysplasia' 'Congenital bowing of long bones' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2290 Microvillus inclusion disease 'Microvillus inclusion disease' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Microvillus inclusion disease' SubClassOf 'Genetic intractable diarrhea of infancy' 'Microvillus inclusion disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000701 ischemic colitis 'ischemic colitis' SubClassOf 'colitis' 'ischemic colitis' SubClassOf 'colitis' http://purl.obolibrary.org/obo/MONDO_0000700 familial hemiplegic migraine 'familial hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' 'familial hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0000721 xanthinuria 'xanthinuria' SubClassOf 'metabolic disease' 'xanthinuria' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_2356 Arachnoid cyst 'Arachnoid cyst' SubClassOf 'Genetic non-syndromic central nervous system malformation' 'Arachnoid cyst' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000726 idiopathic scoliosis 'idiopathic scoliosis' SubClassOf 'scoliosis' 'idiopathic scoliosis' SubClassOf 'scoliosis' http://www.orpha.net/ORDO/Orphanet_2364 Glycogen storage disease due to lactate dehydrogenase deficiency 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2363 Lacrimoauriculodentodigital syndrome 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012714 early-onset myopathy with fatal cardiomyopathy 'early-onset myopathy with fatal cardiomyopathy' SubClassOf 'TTN-related myopathy' 'early-onset myopathy with fatal cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100493 http://purl.obolibrary.org/obo/MONDO_0012719 encephalopathy due to prosaposin deficiency 'encephalopathy due to prosaposin deficiency' SubClassOf 'sphingolipidosis' 'encephalopathy due to prosaposin deficiency' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0000736 dyschromatosis universalis hereditaria 'dyschromatosis universalis hereditaria' SubClassOf 'hyperpigmentation of the skin' 'dyschromatosis universalis hereditaria' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0000733 cornea plana 'cornea plana' SubClassOf 'corneal disease' 'cornea plana' SubClassOf 'corneal disease' http://www.orpha.net/ORDO/Orphanet_2374 Congenital laryngeal web 'Congenital laryngeal web' SubClassOf 'Larynx anomaly' 'Congenital laryngeal web' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2373 Congenital laryngomalacia 'Congenital laryngomalacia' SubClassOf 'Larynx anomaly' 'Congenital laryngomalacia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2371 Lethal Larsen-like syndrome 'Lethal Larsen-like syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Lethal Larsen-like syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Lethal Larsen-like syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2370 Larsen-like osseous dysplasia - short stature 'Larsen-like osseous dysplasia - short stature' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Larsen-like osseous dysplasia - short stature' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2378 Laurin-Sandrow syndrome 'Laurin-Sandrow syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Laurin-Sandrow syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2387 Leukonychia totalis 'Leukonychia totalis' SubClassOf 'Isolated nail anomaly' 'Leukonychia totalis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2386 Leukoencephalopathy-palmoplantar keratoderma syndrome 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis 'Choreoacanthocytosis' SubClassOf 'Neurometabolic disease' 'Choreoacanthocytosis' SubClassOf 'Neuroacanthocytosis' 'Choreoacanthocytosis' SubClassOf 'Huntington disease-like syndrome' 'Choreoacanthocytosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_2314 Autosomal dominant hyper-IgE syndrome 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'Hyper-IgE syndrome' 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_2312 Transient familial neonatal hyperbilirubinemia 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'Rare genetic hepatic disease' 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'perinatal disease' 'Transient familial neonatal hyperbilirubinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2311 Autosomal recessive spondylocostal dysostosis 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Disorder of fucoglycosan synthesis' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Autosomal recessive spondylocostal dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95157 Acute hepatic porphyria 'Acute hepatic porphyria' SubClassOf 'Porphyria' 'Acute hepatic porphyria' SubClassOf 'Genetic photodermatosis' 'Acute hepatic porphyria' SubClassOf 'Rare genetic renal disease' 'Acute hepatic porphyria' SubClassOf 'Disorder of porphyrin and haem metabolism' 'Acute hepatic porphyria' SubClassOf 'Metabolic disease with skin involvement' http://www.orpha.net/ORDO/Orphanet_2309 Pachyonychia congenita 'Pachyonychia congenita' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' 'Pachyonychia congenita' SubClassOf 'Syndromic nail anomaly' 'Pachyonychia congenita' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Pachyonychia congenita' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000766 corneal endothelial dystrophy 'corneal endothelial dystrophy' SubClassOf 'corneal dystrophy' 'corneal endothelial dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009109 lysinuric protein intolerance 'lysinuric protein intolerance' SubClassOf 'inborn disorder of amino acid absorption and transport' 'lysinuric protein intolerance' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0009107 diastrophic dysplasia 'diastrophic dysplasia' SubClassOf 'genetic disorder' 'diastrophic dysplasia' SubClassOf 'osteochondrodysplasia' 'diastrophic dysplasia' SubClassOf 'sulfation-related bone disorder' 'diastrophic dysplasia' SubClassOf 'osteochondrodysplasia' 'diastrophic dysplasia' SubClassOf 'sulfation-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0009106 diastematomyelia 'diastematomyelia' SubClassOf 'congenital nervous system disorder' 'diastematomyelia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_95159 Hepatoerythropoietic porphyria 'Hepatoerythropoietic porphyria' SubClassOf 'Chronic hepatic porphyria' 'Hepatoerythropoietic porphyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2328 Kapur-Toriello syndrome 'Kapur-Toriello syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Kapur-Toriello syndrome' SubClassOf 'Orofacial clefting syndrome' 'Kapur-Toriello syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kapur-Toriello syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009104 Donnai-Barrow syndrome 'Donnai-Barrow syndrome' SubClassOf 'autosomal recessive disease' 'Donnai-Barrow syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_2325 Epidermolysis bullosa simplex with anodontia/hypodontia 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'Epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2323 Sanjad-Sakati syndrome 'Sanjad-Sakati syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Sanjad-Sakati syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0012755 episodic ataxia type 7 'episodic ataxia type 7' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 7' SubClassOf 'hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_95161 Chronic hepatic porphyria 'Chronic hepatic porphyria' SubClassOf 'Porphyria' 'Chronic hepatic porphyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2338 Isolated punctate palmoplantar keratoderma 'Isolated punctate palmoplantar keratoderma' SubClassOf 'Punctate palmoplantar keratoderma' 'Isolated punctate palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009114 congenital sucrase-isomaltase deficiency 'congenital sucrase-isomaltase deficiency' SubClassOf 'intestinal disaccharide deficiency and disaccharide malabsorption' 'congenital sucrase-isomaltase deficiency' SubClassOf 'intestinal disaccharide deficiency and disaccharide malabsorption' http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'Genetic epidermal disorder' http://www.orpha.net/ORDO/Orphanet_2334 Autosomal dominant keratitis 'Autosomal dominant keratitis' SubClassOf 'Corneal dystrophy' 'Autosomal dominant keratitis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009110 dicarboxylic aminoaciduria 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid absorption and transport' 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0010100 Tay-Sachs disease 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' http://www.orpha.net/ORDO/Orphanet_2343 Isolated cloverleaf skull syndrome 'Isolated cloverleaf skull syndrome' SubClassOf 'Isolated craniosynostosis' 'Isolated cloverleaf skull syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2340 Keratosis follicularis spinulosa decalvans 'Keratosis follicularis spinulosa decalvans' SubClassOf 'Keratosis pilaris atrophicans' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'Secondary ectropion' 'Keratosis follicularis spinulosa decalvans' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2349 Muscular pseudohypertrophy - hypothyroidism 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'Syndromic hypothyroidism' 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'Rare hypothyroidism' http://www.orpha.net/ORDO/Orphanet_2348 Familial partial lipodystrophy, Dunnigan type 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'progeroid syndrome' 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'Familial partial lipodystrophy' 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009124 Dubowitz syndrome 'Dubowitz syndrome' SubClassOf 'syndromic intellectual disability' 'Dubowitz syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2347 Lethal Kniest-like dysplasia 'Lethal Kniest-like dysplasia' SubClassOf 'Lethal chondrodysplasia' 'Lethal Kniest-like dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009123 dopamine beta-hydroxylase deficiency 'dopamine beta-hydroxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' 'dopamine beta-hydroxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' http://www.orpha.net/ORDO/Orphanet_2346 Angioosteohypertrophic syndrome 'Angioosteohypertrophic syndrome' SubClassOf 'Congenital vascular bone syndrome' 'Angioosteohypertrophic syndrome' SubClassOf 'Genetic skin vascular disorder' 'Angioosteohypertrophic syndrome' SubClassOf 'Overgrowth syndrome' 'Angioosteohypertrophic syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Angioosteohypertrophic syndrome' SubClassOf 'Genetic vascular anomaly' 'Angioosteohypertrophic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2345 Isolated Klippel-Feil syndrome 'Isolated Klippel-Feil syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Isolated Klippel-Feil syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009130 Dyggve-Melchior-Clausen disease 'Dyggve-Melchior-Clausen disease' SubClassOf 'spondyloepiphyseal dysplasia' 'Dyggve-Melchior-Clausen disease' SubClassOf 'genetic disorder' 'Dyggve-Melchior-Clausen disease' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012774 chromosome 15q13.3 microdeletion syndrome 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009139 dyssegmental dysplasia, Rolland-Desbuquois type 'dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'perlecan-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0009138 dysosteosclerosis 'dysosteosclerosis' SubClassOf 'osteopetrosis' 'dysosteosclerosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0009134 congenital dyserythropoietic anemia type 2 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0009133 cerebellar ataxia, intellectual disability, and dysequilibrium 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'syndromic disease' 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'inherited blood coagulation disorder' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0010121 thrombocytopenia-absent radius syndrome 'thrombocytopenia-absent radius syndrome' SubClassOf 'dysostosis of genetic origin' 'thrombocytopenia-absent radius syndrome' SubClassOf 'congenital limb malformation' 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic disease' 'thrombocytopenia-absent radius syndrome' SubClassOf 'non-syndromic limb reduction defect' 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010125 upper limb defect-eye and ear abnormalities syndrome 'upper limb defect-eye and ear abnormalities syndrome' SubClassOf 'syndromic intellectual disability' 'upper limb defect-eye and ear abnormalities syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009151 cleft lip/palate-ectodermal dysplasia syndrome 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'autosomal recessive disease' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'orofacial cleft' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'autosomal recessive disease' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 'hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 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 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0009158 Ehlers-Danlos syndrome, fibronectinemic type 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome 'EEM syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'EEM syndrome' SubClassOf 'genetic macular dystrophy' 'EEM syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'EEM syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800090 'EEM syndrome' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome 'Ellis-van Creveld syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Ellis-van Creveld syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009161 Ehlers-Danlos syndrome, dermatosparaxis type 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0010143 lethal restrictive dermopathy 'lethal restrictive dermopathy' SubClassOf 'laminopathy' 'lethal restrictive dermopathy' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'lethal restrictive dermopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2306 Isotretinoin-like syndrome 'Isotretinoin-like syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Isotretinoin-like syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009167 Bonnemann-Meinecke-Reich syndrome 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'syndromic intellectual disability' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009166 pontocerebellar hypoplasia type 4 'pontocerebellar hypoplasia type 4' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 4' SubClassOf 'pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_2301 Congenital short bowel syndrome 'Congenital short bowel syndrome' SubClassOf 'Primary short bowel syndrome' 'Congenital short bowel syndrome' SubClassOf 'Syndromic intestinal malformation' 'Congenital short bowel syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2300 Multiple intestinal atresia 'Multiple intestinal atresia' SubClassOf 'Non-syndromic intestinal malformation' 'Multiple intestinal atresia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010159 mismatch repair cancer syndrome 1 'mismatch repair cancer syndrome 1' SubClassOf 'hereditary neoplastic syndrome' 'mismatch repair cancer syndrome 1' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0009179 recessive dystrophic epidermolysis bullosa 'recessive dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' 'recessive dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0010164 phocomelia, Schinzel type 'phocomelia, Schinzel type' SubClassOf 'dysostosis of genetic origin' 'phocomelia, Schinzel type' SubClassOf 'congenital limb malformation' 'phocomelia, Schinzel type' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0009185 amelocerebrohypohidrotic syndrome 'amelocerebrohypohidrotic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'amelocerebrohypohidrotic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 'multiple epiphyseal dysplasia type 4' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia type 4' SubClassOf 'sulfation-related bone disorder' 'multiple epiphyseal dysplasia type 4' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia type 4' SubClassOf 'sulfation-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0009188 epilepsy-telangiectasia syndrome 'epilepsy-telangiectasia syndrome' SubClassOf 'syndromic intellectual disability' 'epilepsy-telangiectasia syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010176 orofaciodigital syndrome type 6 'orofaciodigital syndrome type 6' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 6' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome 'Wolcott-Rallison syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Wolcott-Rallison syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009191 Lowry-Wood syndrome 'Lowry-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800063 http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL with hydrocephalus 'VACTERL with hydrocephalus' SubClassOf 'syndromic anorectal malformation' 'VACTERL with hydrocephalus' SubClassOf 'syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_48818 Aceruloplasminemia 'Aceruloplasminemia' SubClassOf 'Disorder of iron metabolism and transport' 'Aceruloplasminemia' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Aceruloplasminemia' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Aceruloplasminemia' SubClassOf 'Retinal dystrophy' 'Aceruloplasminemia' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Aceruloplasminemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010191 von Willebrand disease 3 'von Willebrand disease 3' SubClassOf 'hereditary von Willebrand disease' 'von Willebrand disease 3' SubClassOf 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome 'Weaver syndrome' SubClassOf 'syndromic intellectual disability' 'Weaver syndrome' SubClassOf 'syndromic intellectual disability' 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 http://www.orpha.net/ORDO/Orphanet_254351 Distal 7q11.23 microdeletion syndrome 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 7' 'Distal 7q11.23 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254361 Autosomal recessive limb-girdle muscular dystrophy type 2Q 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'Qualitative or quantitative defects of plectin' 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268994 Isolated focal cortical dysplasia type II 'Isolated focal cortical dysplasia type II' SubClassOf 'Isolated focal cortical dysplasia' 'Isolated focal cortical dysplasia type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293939 Distal Xq28 microduplication syndrome 'Distal Xq28 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome X' 'Distal Xq28 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_364817 Aggrecan-related bone disorder 'Aggrecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Aggrecan-related bone disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia 'renal-hepatic-pancreatic dysplasia' SubClassOf 'familial cystic renal disease' 'renal-hepatic-pancreatic dysplasia' SubClassOf 'syndromic visceral malformation' 'renal-hepatic-pancreatic dysplasia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'Disorder of thiamine metabolism and transport' 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease 'neonatal inflammatory skin and bowel disease' SubClassOf 'inflammatory bowel disease' 'neonatal inflammatory skin and bowel disease' SubClassOf 'inflammatory bowel disease' http://www.orpha.net/ORDO/Orphanet_293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'Rare genetic endocrine disease' 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'Overgrowth syndrome' 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Syndromic genetic deafness' 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_349 Fucosidosis 'Fucosidosis' SubClassOf 'Oligosaccharidosis' 'Fucosidosis' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Fucosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Fucosidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_348 Fructose-1,6-bisphosphatase deficiency 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'Disorder of fructose metabolism' 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'Gluconeogenesis disorder' 'Fructose-1,6-bisphosphatase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_343 Hyperimmunoglobulinemia D with periodic fever 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Hereditary periodic fever syndrome' 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Mevalonate kinase deficiency' 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_342 Familial Mediterranean fever 'Familial Mediterranean fever' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Familial Mediterranean fever' SubClassOf 'Hereditary periodic fever syndrome' 'Familial Mediterranean fever' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017438 amelia of lower limb 'amelia of lower limb' SubClassOf 'non-syndromic amelia' 'amelia of lower limb' SubClassOf 'non-syndromic amelia' http://www.orpha.net/ORDO/Orphanet_268943 Unilateral polymicrogyria 'Unilateral polymicrogyria' SubClassOf 'Polymicrogyria' 'Unilateral polymicrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268940 Bilateral polymicrogyria 'Bilateral polymicrogyria' SubClassOf 'Polymicrogyria' 'Bilateral polymicrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268947 Unilateral focal polymicrogyria 'Unilateral focal polymicrogyria' SubClassOf 'Unilateral polymicrogyria' 'Unilateral focal polymicrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017435 popliteal pterygium syndrome 'popliteal pterygium syndrome' SubClassOf 'syndromic disease' 'popliteal pterygium syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017437 amelia of upper limb 'amelia of upper limb' SubClassOf 'non-syndromic amelia' 'amelia of upper limb' SubClassOf 'non-syndromic amelia' http://www.orpha.net/ORDO/Orphanet_359 Hereditary glaucoma 'Hereditary glaucoma' SubClassOf 'Genetic developmental defect of the eye' 'Hereditary glaucoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_353 Autosomal recessive limb-girdle muscular dystrophy type 2C 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Qualitative or quantitative defects of gamma-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352 Galactosemia 'Galactosemia' SubClassOf 'Cataract associated with a metabolic disease' 'Galactosemia' SubClassOf 'Rare metabolic liver disease' 'Galactosemia' SubClassOf 'Metabolic disease with cataract' 'Galactosemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Galactosemia' SubClassOf 'Disorder of galactose metabolism' 'Galactosemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_351 Galactosialidosis 'Galactosialidosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Galactosialidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Galactosialidosis' SubClassOf 'Metabolic disease with corneal opacity' 'Galactosialidosis' SubClassOf 'Oligosaccharidosis' 'Galactosialidosis' SubClassOf 'Neurometabolic disease' 'Galactosialidosis' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Galactosialidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217340 17q21.31 microduplication syndrome '17q21.31 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q21.31 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '17q21.31 microduplication syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' '17q21.31 microduplication syndrome' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_268926 Midline cerebral malformation 'Midline cerebral malformation' SubClassOf 'Genetic cerebral malformation' 'Midline cerebral malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217346 19q13.11 microdeletion syndrome '19q13.11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 19' '19q13.11 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '19q13.11 microdeletion syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' '19q13.11 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_367 Glycogen storage disease due to glycogen branching enzyme deficiency 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Familial dilated cardiomyopathy' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Rare metabolic liver disease' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal glycogen storage disease' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Genetic skeletal muscle disease' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_364 Glycogen storage disease due to glucose-6-phosphatase deficiency 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Rare genetic renal disease' 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'Rare metabolic liver disease' 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_361 Familial glucocorticoid deficiency 'Familial glucocorticoid deficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Familial glucocorticoid deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217377 Microduplication Xp11.22-p11.23 syndrome 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Partial duplication of the short arm of chromosome X' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Chromosome X structural anomaly' http://purl.obolibrary.org/obo/MONDO_0017452 non-syndromic brachydactyly of toes 'non-syndromic brachydactyly of toes' SubClassOf 'non-syndromic brachydactyly' 'non-syndromic brachydactyly of toes' SubClassOf 'non-syndromic brachydactyly' http://www.orpha.net/ORDO/Orphanet_398189 Focal facial dermal dysplasia type IV 'Focal facial dermal dysplasia type IV' SubClassOf 'Focal facial dermal dysplasia' 'Focal facial dermal dysplasia type IV' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_379 Chronic granulomatous disease 'Chronic granulomatous disease' SubClassOf 'Functional neutrophil defect' 'Chronic granulomatous disease' SubClassOf 'Genetic immune deficiency with skin involvement' 'Chronic granulomatous disease' SubClassOf 'related to' some 'vasculitis' 'Chronic granulomatous disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370 Glycogen storage disease due to phosphorylase kinase deficiency 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_293925 Lethal occipital encephalocele-skeletal dysplasia syndrome 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'Syndromic craniosynostosis' 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_disease_location' some 'motor neuron' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'hereditary motor neuron disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_385 Neurodegeneration with brain iron accumulation 'Neurodegeneration with brain iron accumulation' SubClassOf 'mineral metabolism disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic dementia' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'inborn errors of metabolism' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Neurometabolic disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic neurodegenerative disease' 'Neurodegeneration with brain iron accumulation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_384 Palmoplantar keratoderma-sclerodactyly syndrome 'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183450 Genetic hair anomaly 'Genetic hair anomaly' SubClassOf 'Genetic epidermal appendage anomaly' 'Genetic hair anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217396 Progressive demyelinating neuropathy with bilateral striatal necrosis 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'Genetic peripheral neuropathy' 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_382 Guanidinoacetate methyltransferase deficiency 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'cerebral creatine deficiency syndrome' 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Guanidinoacetate methyltransferase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_381 Griscelli disease 'Griscelli disease' SubClassOf 'Syndromic oculocutaneous albinism' 'Griscelli disease' SubClassOf 'Pigmentation disorder with eye involvement' 'Griscelli disease' SubClassOf 'Genetic hypopigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_217390 Combined immunodeficiency due to DOCK8 deficiency 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'Autosomal recessive hyper-IgE syndrome' 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183454 Genetic nail anomaly 'Genetic nail anomaly' SubClassOf 'Genetic epidermal appendage anomaly' 'Genetic nail anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268987 Isolated focal cortical dysplasia type Ic 'Isolated focal cortical dysplasia type Ic' SubClassOf 'Isolated focal cortical dysplasia type I' 'Isolated focal cortical dysplasia type Ic' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183447 Genetic epidermal appendage anomaly 'Genetic epidermal appendage anomaly' SubClassOf 'Rare genetic skin disease' 'Genetic epidermal appendage anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217399 Congenital insensitivity to pain with hyperhidrosis 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268980 Isolated focal cortical dysplasia type Ib 'Isolated focal cortical dysplasia type Ib' SubClassOf 'Isolated focal cortical dysplasia type I' 'Isolated focal cortical dysplasia type Ib' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254343 Autosomal recessive spastic ataxia - optic atrophy - dysarthria 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Autosomal recessive spastic ataxia' 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Rare hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_217382 Neurodegenerative syndrome due to cerebral folate transport deficiency 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'participates_in' some ('folic acid transport' and ('has component' some 'abnormal')) 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'Disorder of folate metabolism and transport' 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'Genetic neurodegenerative disease' 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183460 Genetic sebaceous gland anomaly 'Genetic sebaceous gland anomaly' SubClassOf 'Genetic epidermal appendage anomaly' 'Genetic sebaceous gland anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'Disorder of folate metabolism and transport' 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_394 Classical homocystinuria 'Classical homocystinuria' SubClassOf 'Developmental anomaly of metabolic origin' 'Classical homocystinuria' SubClassOf 'Lens position anomaly' 'Classical homocystinuria' SubClassOf 'Neurometabolic disease' 'Classical homocystinuria' SubClassOf 'Genetic lens and zonula anomaly' 'Classical homocystinuria' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_217385 17p13.3 microduplication syndrome '17p13.3 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '17p13.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 17' '17p13.3 microduplication syndrome' SubClassOf 'Partial autosomal trisomy/tetrasomy' '17p13.3 microduplication syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_268973 Isolated focal cortical dysplasia type Ia 'Isolated focal cortical dysplasia type Ia' SubClassOf 'Isolated focal cortical dysplasia type I' 'Isolated focal cortical dysplasia type Ia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91088 Other metabolic disease 'Other metabolic disease' SubClassOf 'Inborn errors of metabolism' 'Other metabolic disease' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Other metabolic disease' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_171445 Muscle filaminopathy 'Muscle filaminopathy' SubClassOf 'Qualitative or quantitative defects of filamin C' 'Muscle filaminopathy' SubClassOf 'Myofibrillar myopathy' 'Muscle filaminopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_268961 Isolated focal cortical dysplasia type I 'Isolated focal cortical dysplasia type I' SubClassOf 'Isolated focal cortical dysplasia' 'Isolated focal cortical dysplasia type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183435 Inherited ichthyosis 'Inherited ichthyosis' SubClassOf 'Genetic epidermal disorder' 'Inherited ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268950 Cerebral cortical dysplasia 'Cerebral cortical dysplasia' SubClassOf 'Non-syndromic cerebral malformation due to abnormal neuronal migration' 'Cerebral cortical dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0042488 Cestode infectious disease 'Cestode infectious disease' SubClassOf 'Helminthiasis' 'Cestode infectious disease' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0042484 disseminated sporotrichosis 'disseminated sporotrichosis' SubClassOf 'sporotrichosis' 'disseminated sporotrichosis' SubClassOf 'sporotrichosis' http://purl.obolibrary.org/obo/MONDO_0042493 gastric non-hodgkin lymphoma 'gastric non-hodgkin lymphoma' SubClassOf 'gastric lymphoma' 'gastric non-hodgkin lymphoma' SubClassOf 'gastric lymphoma' http://www.orpha.net/ORDO/Orphanet_183533 Genetic multiple congenital anomalies/dysmorphic syndrome 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_404 Familial hyperaldosteronism type II 'Familial hyperaldosteronism type II' SubClassOf 'neoplasm' 'Familial hyperaldosteronism type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183503 Genetic central nervous system and retinal vascular disease 'Genetic central nervous system and retinal vascular disease' SubClassOf 'Rare genetic neurological disorder' 'Genetic central nervous system and retinal vascular disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_413 Hyperlipoproteinemia type 4 'Hyperlipoproteinemia type 4' SubClassOf 'Major hypertriglyceridemia' 'Hyperlipoproteinemia type 4' SubClassOf 'Rare hyperlipidemia' http://www.orpha.net/ORDO/Orphanet_412 Hyperlipoproteinemia type 3 'Hyperlipoproteinemia type 3' SubClassOf 'Combined hyperlipidemia' 'Hyperlipoproteinemia type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_411 Hyperlipoproteinemia type 1 'Hyperlipoproteinemia type 1' SubClassOf 'Major hypertriglyceridemia' 'Hyperlipoproteinemia type 1' SubClassOf 'Rare hyperlipidemia' http://www.orpha.net/ORDO/Orphanet_409 Hyperkeratosis lenticularis perstans 'Hyperkeratosis lenticularis perstans' SubClassOf 'Other genetic epidermal disease' 'Hyperkeratosis lenticularis perstans' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_408 Isolated glycerol kinase deficiency 'Isolated glycerol kinase deficiency' SubClassOf 'Glycerol kinase deficiency' 'Isolated glycerol kinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_407 Glycine encephalopathy 'Glycine encephalopathy' SubClassOf 'Neurometabolic disease' 'Glycine encephalopathy' SubClassOf 'Disorder of serine or glycine metabolism' 'Glycine encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_405 Familial hypocalciuric hypercalcemia 'Familial hypocalciuric hypercalcemia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Familial hypocalciuric hypercalcemia' SubClassOf 'participates_in' some 'calcium ion homeostasis' 'Familial hypocalciuric hypercalcemia' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Familial hypocalciuric hypercalcemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_425 Apolipoprotein A-I deficiency 'Apolipoprotein A-I deficiency' SubClassOf 'Hypoalphalipoproteinemia' 'Apolipoprotein A-I deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_424 Familial hyperthyroidism due to mutations in TSH receptor 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'Genetic hypertension' 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'Rare hyperthyroidism' 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_422 Idiopathic and/or familial pulmonary arterial hypertension 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'heritable pulmonary arterial hypertension' 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'Rare genetic respiratory disease' 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_419 Hyperprolinemia type 1 'Hyperprolinemia type 1' SubClassOf 'Neurometabolic disease' 'Hyperprolinemia type 1' SubClassOf 'Disorder of proline metabolism' 'Hyperprolinemia type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_418 Congenital adrenal hyperplasia 'Congenital adrenal hyperplasia' SubClassOf 'Adrenogenital syndrome' 'Congenital adrenal hyperplasia' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Congenital adrenal hyperplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_417 Neonatal severe primary hyperparathyroidism 'Neonatal severe primary hyperparathyroidism' SubClassOf 'Genetic hyperparathyroidism' 'Neonatal severe primary hyperparathyroidism' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Neonatal severe primary hyperparathyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_416 Primary hyperoxaluria 'Primary hyperoxaluria' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Primary hyperoxaluria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Primary hyperoxaluria' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Primary hyperoxaluria' SubClassOf 'Disorder of glyoxylate metabolism' 'Primary hyperoxaluria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_437 Hypophosphatemic rickets 'Hypophosphatemic rickets' SubClassOf 'Disorders of vitamin D metabolism' 'Hypophosphatemic rickets' SubClassOf 'Genetic renal tubular disease' 'Hypophosphatemic rickets' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_436 Hypophosphatasia 'Hypophosphatasia' SubClassOf 'Developmental anomaly of metabolic origin' 'Hypophosphatasia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Hypophosphatasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_429 Hypochondroplasia 'Hypochondroplasia' SubClassOf 'Primary bone dysplasia with micromelia' 'Hypochondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'Hypochondroplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_428 Autosomal dominant hypocalcemia 'Autosomal dominant hypocalcemia' SubClassOf 'calcium metabolic disease' 'Autosomal dominant hypocalcemia' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'calcium ion homeostasis')) 'Autosomal dominant hypocalcemia' SubClassOf 'Familial isolated hypoparathyroidism' 'Autosomal dominant hypocalcemia' SubClassOf 'inborn errors of metabolism' 'Autosomal dominant hypocalcemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_427 Familial hypoaldosteronism 'Familial hypoaldosteronism' SubClassOf 'Rare genetic adrenal disease' 'Familial hypoaldosteronism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_448 Hemophilia 'Hemophilia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Hemophilia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_446 Neonatal hemochromatosis 'Neonatal hemochromatosis' SubClassOf 'Disorder of iron metabolism and transport' 'Neonatal hemochromatosis' SubClassOf 'Rare metabolic liver disease' 'Neonatal hemochromatosis' SubClassOf 'perinatal disease' 'Neonatal hemochromatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_442 Congenital hypothyroidism 'Congenital hypothyroidism' SubClassOf 'Rare hypothyroidism' 'Congenital hypothyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217335 MACS syndrome 'MACS syndrome' SubClassOf 'Cutis laxa' 'MACS syndrome' SubClassOf 'Rare palpebral disease' 'MACS syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'MACS syndrome' SubClassOf 'Genetic dermis elastic tissue disorder' 'MACS syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_457 Harlequin ichthyosis 'Harlequin ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Harlequin ichthyosis' SubClassOf 'Genetic epidermal disorder' http://www.orpha.net/ORDO/Orphanet_455 Superficial epidermolytic ichthyosis 'Superficial epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' 'Superficial epidermolytic ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93571 Dense deposit disease 'Dense deposit disease' SubClassOf 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' 'Dense deposit disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007916 primary intestinal lymphangiectasia 'primary intestinal lymphangiectasia' SubClassOf 'intestinal lymphangiectasia' 'primary intestinal lymphangiectasia' SubClassOf 'intestinal lymphangiectasia' http://www.orpha.net/ORDO/Orphanet_93579 Atypical hemolytic-uremic syndrome with H factor anomaly 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93578 Atypical hemolytic-uremic syndrome with B factor anomaly 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93576 Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93575 Atypical hemolytic-uremic syndrome with C3 anomaly 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Syndromic visceral malformation' 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Syndromic intestinal malformation' 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Genetic digestive tract malformation' 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' http://www.orpha.net/ORDO/Orphanet_93581 Atypical hemolytic-uremic syndrome with anti-factor H antibodies 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93580 Atypical hemolytic-uremic syndrome with I factor anomaly 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007934 benign concentric annular macular dystrophy 'benign concentric annular macular dystrophy' SubClassOf 'genetic macular dystrophy' 'benign concentric annular macular dystrophy' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0007935 cystoid macular edema 'cystoid macular edema' SubClassOf 'macular retinal edema' 'cystoid macular edema' SubClassOf 'macular retinal edema' http://www.orpha.net/ORDO/Orphanet_93589 Late-onset nephronophthisis 'Late-onset nephronophthisis' SubClassOf 'Nephronophthisis' 'Late-onset nephronophthisis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93587 Familial cystic renal disease 'Familial cystic renal disease' SubClassOf 'Rare genetic renal disease' 'Familial cystic renal disease' SubClassOf 'has_disease_location' some 'kidney' 'Familial cystic renal disease' SubClassOf 'kidney disease' 'Familial cystic renal disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93593 Nephropathy secondary to a storage or other metabolic disease 'Nephropathy secondary to a storage or other metabolic disease' SubClassOf 'Rare genetic renal disease' 'Nephropathy secondary to a storage or other metabolic disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93592 Juvenile nephronophthisis 'Juvenile nephronophthisis' SubClassOf 'Nephronophthisis' 'Juvenile nephronophthisis' SubClassOf 'Rare genetic renal disease' 'Juvenile nephronophthisis' SubClassOf 'has_disease_location' some 'kidney' 'Juvenile nephronophthisis' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_93591 Infantile nephronophthisis 'Infantile nephronophthisis' SubClassOf 'Nephronophthisis' 'Infantile nephronophthisis' SubClassOf 'Rare genetic renal disease' 'Infantile nephronophthisis' SubClassOf 'has_disease_location' some 'kidney' 'Infantile nephronophthisis' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome 'Marfan syndrome' SubClassOf 'syndromic disease' 'Marfan syndrome' SubClassOf 'autosomal dominant disease' 'Marfan syndrome' SubClassOf 'syndromic disease' 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 'Marfan syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007946 jaw-winking syndrome 'jaw-winking syndrome' SubClassOf 'cranial nerve neuropathy' 'jaw-winking syndrome' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0007943 Nager acrofacial dysostosis 'Nager acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://www.orpha.net/ORDO/Orphanet_93599 Primary hyperoxaluria type 2 'Primary hyperoxaluria type 2' SubClassOf 'Primary hyperoxaluria' 'Primary hyperoxaluria type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93598 Primary hyperoxaluria type 1 'Primary hyperoxaluria type 1' SubClassOf 'Primary hyperoxaluria' 'Primary hyperoxaluria type 1' SubClassOf 'Peroxisomal disease' 'Primary hyperoxaluria type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007949 Marshall syndrome 'Marshall syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800087 'Marshall syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007956 Pai syndrome 'Pai syndrome' SubClassOf 'frontonasal dysplasia' 'Pai syndrome' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019934 polyploidy 'polyploidy' SubClassOf 'chromosomal disorder' 'polyploidy' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0007964 melanoma, cutaneous malignant, susceptibility to, 2 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'familial melanoma' 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'familial melanoma' http://purl.obolibrary.org/obo/MONDO_0007962 Megalodactyly 'Megalodactyly' SubClassOf 'genetic disorder' 'Megalodactyly' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_293825 Congenital dyserythropoietic anemia type IV 'Congenital dyserythropoietic anemia type IV' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type IV' SubClassOf 'Rare constitutional anemia' http://purl.obolibrary.org/obo/MONDO_0019940 hypertrichosis-acromegaloid facial appearance syndrome 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'hypertrichosis' 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'hypertrichosis' http://purl.obolibrary.org/obo/MONDO_0044917 T-lymphoblastic lymphoma 'T-lymphoblastic lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'T-lymphoblastic lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://www.orpha.net/ORDO/Orphanet_93547 Syndromic renal or urinary tract malformation 'Syndromic renal or urinary tract malformation' SubClassOf 'Genetic renal or urinary tract malformation' 'Syndromic renal or urinary tract malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007979 metachondromatosis 'metachondromatosis' SubClassOf 'genetic disorder' 'metachondromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://purl.obolibrary.org/obo/MONDO_0007977 mesomelic dysplasia, Kantaputra type 'mesomelic dysplasia, Kantaputra type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'mesomelic dysplasia, Kantaputra type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007970 melorheostosis 'melorheostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://www.orpha.net/ORDO/Orphanet_293830 Constitutional dyserythropoietic anemia 'Constitutional dyserythropoietic anemia' SubClassOf 'Rare constitutional anemia' 'Constitutional dyserythropoietic anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019950 congenital muscular dystrophy 'congenital muscular dystrophy' SubClassOf 'muscular dystrophy' 'congenital muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0007987 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'hereditary disorder of connective tissue' 'Kniest dysplasia' SubClassOf 'type 2 collagenopathy' 'Kniest dysplasia' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0007986 metatropic dysplasia 'metatropic dysplasia' SubClassOf 'TRPV4-related bone disorder' 'metatropic dysplasia' SubClassOf 'genetic disorder' 'metatropic dysplasia' SubClassOf 'TRPV4-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0007983 Schmid metaphyseal chondrodysplasia 'Schmid metaphyseal chondrodysplasia' SubClassOf 'multiple metaphyseal dysplasia' 'Schmid metaphyseal chondrodysplasia' SubClassOf 'genetic disorder' 'Schmid metaphyseal chondrodysplasia' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'genetic disorder' 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0005321 Fuchs' endothelial dystrophy 'Fuchs' endothelial dystrophy' SubClassOf 'posterior corneal dystrophy' 'Fuchs' endothelial dystrophy' SubClassOf 'corneal endothelial dystrophy' 'Fuchs' endothelial dystrophy' SubClassOf 'posterior corneal dystrophy' 'Fuchs' endothelial dystrophy' SubClassOf 'corneal endothelial dystrophy' http://purl.obolibrary.org/obo/MONDO_0007982 metaphyseal chondrodysplasia, Jansen type 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'genetic disorder' 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0020947 parasitic eye infection 'parasitic eye infection' SubClassOf 'parasitic infection' 'parasitic eye infection' SubClassOf 'eye infectious disorder' 'parasitic eye infection' SubClassOf 'parasitic infection' 'parasitic eye infection' SubClassOf 'eye infectious disorder' http://purl.obolibrary.org/obo/MONDO_0017309 neonatal Marfan syndrome 'neonatal Marfan syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_293848 Right temporal lobar atrophy 'Right temporal lobar atrophy' SubClassOf 'Frontotemporal dementia' 'Right temporal lobar atrophy' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Right temporal lobar atrophy' SubClassOf 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_226 Dihydropteridine reductase deficiency 'Dihydropteridine reductase deficiency' SubClassOf 'Hyperphenylalaninemia' 'Dihydropteridine reductase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_225 Maternally-inherited diabetes and deafness 'Maternally-inherited diabetes and deafness' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited diabetes and deafness' SubClassOf 'Rare genetic diabetes mellitus' 'Maternally-inherited diabetes and deafness' SubClassOf 'Syndromic genetic deafness' 'Maternally-inherited diabetes and deafness' SubClassOf 'Mitochondrial disease with eye involvement' 'Maternally-inherited diabetes and deafness' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_224 Neonatal diabetes mellitus 'Neonatal diabetes mellitus' SubClassOf 'perinatal disease' 'Neonatal diabetes mellitus' SubClassOf 'Rare genetic diabetes mellitus' 'Neonatal diabetes mellitus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_223 Nephrogenic diabetes insipidus 'Nephrogenic diabetes insipidus' SubClassOf 'Genetic renal tubular disease' 'Nephrogenic diabetes insipidus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268817 Cephalocele 'Cephalocele' SubClassOf 'Neural tube closure defect' 'Cephalocele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007991 microcephaly-deafness-intellectual disability syndrome 'microcephaly-deafness-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-deafness-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017317 phakomatosis pigmentokeratotica 'phakomatosis pigmentokeratotica' SubClassOf 'inherited skin tumor' 'phakomatosis pigmentokeratotica' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/HP_0001257 Spasticity 'Spasticity' SubClassOf 'Abnormality of movement' http://www.orpha.net/ORDO/Orphanet_268820 Cranial meningocele 'Cranial meningocele' SubClassOf 'Cephalocele' 'Cranial meningocele' SubClassOf 'Genetic non-syndromic central nervous system malformation' http://www.orpha.net/ORDO/Orphanet_268826 Parietal encephalocele 'Parietal encephalocele' SubClassOf 'Isolated encephalocele' 'Parietal encephalocele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0017315 short stature-webbed neck-heart disease syndrome 'short stature-webbed neck-heart disease syndrome' SubClassOf 'syndromic intellectual disability' 'short stature-webbed neck-heart disease syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_268823 Occipital encephalocele 'Occipital encephalocele' SubClassOf 'Isolated encephalocele' 'Occipital encephalocele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_219 Autosomal recessive limb-girdle muscular dystrophy type 2F 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Qualitative or quantitative defects of delta-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238 Digestive duplication 'Digestive duplication' SubClassOf 'Non-syndromic intestinal malformation' 'Digestive duplication' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_237 Duplication of urethra 'Duplication of urethra' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Duplication of urethra' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_236 Trisomy 9p 'Trisomy 9p' SubClassOf 'Partial trisomy of the short arm of chromosome 9' 'Trisomy 9p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_232 Sickle cell anemia 'Sickle cell anemia' SubClassOf 'Sickle cell disease and related diseases' 'Sickle cell anemia' SubClassOf 'genetic infertility' 'Sickle cell anemia' SubClassOf 'osteonecrosis of genetic origin' 'Sickle cell anemia' SubClassOf 'Hematological disorder with renal involvement' 'Sickle cell anemia' SubClassOf 'Rare hereditary disease with avascular necrosis' 'Sickle cell anemia' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Sickle cell anemia' SubClassOf 'kidney disease' 'Sickle cell anemia' SubClassOf 'male infertility' 'Sickle cell anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_230 Dopamine beta-hydroxylase deficiency 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Neurometabolic disease' 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Ptosis' 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Disorder of catecholamine synthesis' 'Dopamine beta-hydroxylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017329 familial vesicoureteral reflux 'familial vesicoureteral reflux' SubClassOf 'disease of genitourinary system' http://www.orpha.net/ORDO/Orphanet_268810 Posterior meningocele 'Posterior meningocele' SubClassOf 'Spina bifida cystica' 'Posterior meningocele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017324 autosomal recessive hypophosphatemic rickets 'autosomal recessive hypophosphatemic rickets' SubClassOf 'autosomal recessive disease' 'autosomal recessive hypophosphatemic rickets' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_268813 Myelocystocele 'Myelocystocele' SubClassOf 'Spina bifida cystica' 'Myelocystocele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019982 bilateral multicystic dysplastic kidney 'bilateral multicystic dysplastic kidney' SubClassOf 'multicystic dysplastic kidney' 'bilateral multicystic dysplastic kidney' SubClassOf 'multicystic dysplastic kidney' http://purl.obolibrary.org/obo/MONDO_0017323 hypocalcemic rickets 'hypocalcemic rickets' SubClassOf 'rickets' 'hypocalcemic rickets' SubClassOf 'rickets' http://purl.obolibrary.org/obo/MONDO_0019980 renal hypoplasia, bilateral 'renal hypoplasia, bilateral' SubClassOf 'renal hypoplasia' 'renal hypoplasia, bilateral' SubClassOf 'renal hypoplasia' http://www.orpha.net/ORDO/Orphanet_248 Autosomal recessive hypohidrotic ectodermal dysplasia 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_246 Postaxial acrofacial dysostosis 'Postaxial acrofacial dysostosis' SubClassOf 'Syndromic developmental defect of the eye' 'Postaxial acrofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'Postaxial acrofacial dysostosis' SubClassOf 'Secondary ectropion' 'Postaxial acrofacial dysostosis' SubClassOf 'Syndromic palpebral coloboma' 'Postaxial acrofacial dysostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Postaxial acrofacial dysostosis' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Postaxial acrofacial dysostosis' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Postaxial acrofacial dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_245 Nager syndrome 'Nager syndrome' SubClassOf 'Acrofacial dysostosis' 'Nager syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Nager syndrome' SubClassOf 'Malposition of external canthus' 'Nager syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nager syndrome' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Nager syndrome' SubClassOf 'Eyelid malformation' 'Nager syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_244 Primary ciliary dyskinesia 'Primary ciliary dyskinesia' SubClassOf 'Rare genetic respiratory disease' 'Primary ciliary dyskinesia' SubClassOf 'has_disease_location' some 'cilium' 'Primary ciliary dyskinesia' SubClassOf 'ciliopathy' 'Primary ciliary dyskinesia' SubClassOf 'Male infertility due to sperm motility disorder' 'Primary ciliary dyskinesia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_240 Léri-Weill dyschondrosteosis 'Léri-Weill dyschondrosteosis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Léri-Weill dyschondrosteosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_258 Congenital muscular dystrophy type 1A 'Congenital muscular dystrophy type 1A' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy type 1A' SubClassOf 'Qualitative or quantitative defects of merosin' 'Congenital muscular dystrophy type 1A' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of plectin' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_256 Early-onset generalized limb-onset dystonia 'Early-onset generalized limb-onset dystonia' SubClassOf 'Generalized isolated dystonia' 'Early-onset generalized limb-onset dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_255 Dopa-responsive dystonia 'Dopa-responsive dystonia' SubClassOf 'Persistent combined dystonia' 'Dopa-responsive dystonia' SubClassOf 'Neurometabolic disease' 'Dopa-responsive dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254 Spondylometaphyseal dysplasia 'Spondylometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' 'Spondylometaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251 Multiple epiphyseal dysplasia 'Multiple epiphyseal dysplasia' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Multiple epiphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_250 Frontonasal dysplasia 'Frontonasal dysplasia' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Frontonasal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_269 Facioscapulohumeral dystrophy 'Facioscapulohumeral dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Facioscapulohumeral dystrophy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_268 Autosomal recessive limb-girdle muscular dystrophy type 2B 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_267 Autosomal recessive limb-girdle muscular dystrophy type 2A 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'Qualitative or quantitative defects of calpain' 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0005374 bone marrow neoplasm 'bone marrow neoplasm' SubClassOf 'bone marrow disorder' 'bone marrow neoplasm' SubClassOf 'bone marrow disorder' http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy 'Limb-girdle muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Limb-girdle muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268865 Neurenteric cyst 'Neurenteric cyst' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Neurenteric cyst' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268868 Isolated amyelia 'Isolated amyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Isolated amyelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017352 disorder of glutamine metabolism 'disorder of glutamine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'disorder of glutamine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_278 Corticobasal degeneration 'Corticobasal degeneration' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Corticobasal degeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_275 Severe combined immunodeficiency due to DCLRE1C deficiency 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy 'Steinert myotonic dystrophy' SubClassOf 'Ptosis' 'Steinert myotonic dystrophy' SubClassOf 'Myotonic dystrophy' 'Steinert myotonic dystrophy' SubClassOf 'Kinetic eyelid anomaly' 'Steinert myotonic dystrophy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_272 Congenital muscular dystrophy, Fukuyama type 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Syndromic myopia' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'inborn errors of metabolism' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Rare genetic refraction anomaly' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_270 Oculopharyngeal muscular dystrophy 'Oculopharyngeal muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Oculopharyngeal muscular dystrophy' SubClassOf 'Ptosis' 'Oculopharyngeal muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome 'juvenile polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'juvenile polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' http://www.orpha.net/ORDO/Orphanet_289 Ellis Van Creveld syndrome 'Ellis Van Creveld syndrome' SubClassOf 'Short rib-polydactyly syndrome' 'Ellis Van Creveld syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ellis Van Creveld syndrome' SubClassOf 'Rare genetic skin disease' 'Ellis Van Creveld syndrome' SubClassOf 'Primary bone dysplasia' 'Ellis Van Creveld syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_288 Hereditary elliptocytosis 'Hereditary elliptocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Hereditary elliptocytosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268838 Leptomyelolipoma 'Leptomyelolipoma' SubClassOf 'Lipoma associated with neurospinal dysraphism' 'Leptomyelolipoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_282 Frontotemporal dementia 'Frontotemporal dementia' SubClassOf 'mental or behavioural disorder' 'Frontotemporal dementia' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Frontotemporal dementia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_281 Monosomy 5p 'Monosomy 5p' SubClassOf 'Partial deletion of the short arm of chromosome 5' 'Monosomy 5p' SubClassOf 'Syndromic epicanthus' 'Monosomy 5p' SubClassOf 'Partial autosomal monosomy' 'Monosomy 5p' SubClassOf 'Rare palpebral disease' http://www.orpha.net/ORDO/Orphanet_268843 Malformation of the neurenteric canal, spinal cord and column 'Malformation of the neurenteric canal, spinal cord and column' SubClassOf 'Neural tube defect' 'Malformation of the neurenteric canal, spinal cord and column' SubClassOf 'Genetic non-syndromic central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0017377 preaxial polydactyly-colobomata-intellectual disability syndrome 'preaxial polydactyly-colobomata-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'preaxial polydactyly-colobomata-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017392 pre-descemet corneal dystrophy 'pre-descemet corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'pre-descemet corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_298 Mitochondrial neurogastrointestinal encephalomyopathy 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Ptosis' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Disorder of pyrimidine metabolism' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044972 eosinophil disorder 'eosinophil disorder' SubClassOf 'leukocyte disorder' 'eosinophil disorder' SubClassOf 'leukocyte disorder' http://www.orpha.net/ORDO/Orphanet_268829 Basal encephalocele 'Basal encephalocele' SubClassOf 'Isolated encephalocele' 'Basal encephalocele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268832 Lipoma associated with neurospinal dysraphism 'Lipoma associated with neurospinal dysraphism' SubClassOf 'Neural tube closure defect' 'Lipoma associated with neurospinal dysraphism' SubClassOf 'Genetic non-syndromic central nervous system malformation' http://www.orpha.net/ORDO/Orphanet_268835 Lipomyelomeningocele 'Lipomyelomeningocele' SubClassOf 'Lipoma associated with neurospinal dysraphism' 'Lipomyelomeningocele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017386 pleomorphic rhabdomyosarcoma 'pleomorphic rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'pleomorphic rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0017398 3MC syndrome '3MC syndrome' SubClassOf 'syndromic intellectual disability' '3MC syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017393 blepharophimosis - intellectual disability syndrome 'blepharophimosis - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'blepharophimosis - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_171430 Severe congenital nemaline myopathy 'Severe congenital nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Severe congenital nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Severe congenital nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Severe congenital nemaline myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171433 Intermediate nemaline myopathy 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Intermediate nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Intermediate nemaline myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171436 Typical nemaline myopathy 'Typical nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Typical nemaline myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171439 Childhood-onset nemaline myopathy 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Childhood-onset nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Childhood-onset nemaline myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171442 Adult-onset nemaline myopathy 'Adult-onset nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Adult-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Adult-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Adult-onset nemaline myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005950 head and neck neoplasia 'head and neck neoplasia' SubClassOf 'neoplasm' 'head and neck neoplasia' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_305 Junctional epidermolysis bullosa 'Junctional epidermolysis bullosa' SubClassOf 'Inherited epidermolysis bullosa' 'Junctional epidermolysis bullosa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Junctional epidermolysis bullosa' SubClassOf 'inherited epidermolysis bullosa' 'Junctional epidermolysis bullosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_304 Epidermolysis bullosa simplex 'Epidermolysis bullosa simplex' SubClassOf 'Inherited epidermolysis bullosa' 'Epidermolysis bullosa simplex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_303 Dystrophic epidermolysis bullosa 'Dystrophic epidermolysis bullosa' SubClassOf 'Inherited epidermolysis bullosa' 'Dystrophic epidermolysis bullosa' SubClassOf 'Genetic epidermal disorder' http://www.orpha.net/ORDO/Orphanet_302 Epidermodysplasia verruciformis 'Epidermodysplasia verruciformis' SubClassOf 'Other immunodeficiency syndromes due to defects in innate immunity' 'Epidermodysplasia verruciformis' SubClassOf 'Genetic immune deficiency with skin involvement' 'Epidermodysplasia verruciformis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314 Erythroderma desquamativum 'Erythroderma desquamativum' SubClassOf 'Genetic immune deficiency with skin involvement' 'Erythroderma desquamativum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_313 Lamellar ichthyosis 'Lamellar ichthyosis' SubClassOf 'Secondary ectropion' 'Lamellar ichthyosis' SubClassOf 'Ichthyosis associated with ocular features' 'Lamellar ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Lamellar ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_312 Epidermolytic ichthyosis 'Epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' 'Epidermolytic ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309 Familial partial epilepsy 'Familial partial epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Familial partial epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Familial partial epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Familial partial epilepsy' SubClassOf 'Channelopathy with epilepsy' 'Familial partial epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_307 Juvenile myoclonic epilepsy 'Juvenile myoclonic epilepsy' SubClassOf 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Juvenile myoclonic epilepsy' SubClassOf 'Familial partial epilepsy' 'Juvenile myoclonic epilepsy' SubClassOf 'familial partial epilepsy' 'Juvenile myoclonic epilepsy' SubClassOf 'movement disorder' 'Juvenile myoclonic epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306 Benign familial infantile epilepsy 'Benign familial infantile epilepsy' SubClassOf 'Benign partial infantile seizures' 'Benign familial infantile epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Benign familial infantile epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_327 Congenital factor VII deficiency 'Congenital factor VII deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Congenital factor VII deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_326 Congenital factor V deficiency 'Congenital factor V deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital factor V deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_325 Congenital factor II deficiency 'Congenital factor II deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Congenital factor II deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_322 Exstrophy-epispadias complex 'Exstrophy-epispadias complex' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Exstrophy-epispadias complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_320 Apparent mineralocorticoid excess 'Apparent mineralocorticoid excess' SubClassOf 'Genetic hypertension' 'Apparent mineralocorticoid excess' SubClassOf 'Rare genetic adrenal disease' 'Apparent mineralocorticoid excess' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_317 Erythrokeratodermia variabilis 'Erythrokeratodermia variabilis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Erythrokeratodermia variabilis' SubClassOf 'Erythrokeratoderma variabilis progressiva' 'Erythrokeratodermia variabilis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_338 Familial multiple fibrofolliculoma 'Familial multiple fibrofolliculoma' SubClassOf 'Genetic skin tumor' 'Familial multiple fibrofolliculoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_337 Fibrodysplasia ossificans progressiva 'Fibrodysplasia ossificans progressiva' SubClassOf 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' 'Fibrodysplasia ossificans progressiva' SubClassOf 'Genetic subcutaneous tissue disorder' 'Fibrodysplasia ossificans progressiva' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_335 Congenital fibrinogen deficiency 'Congenital fibrinogen deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital fibrinogen deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_334 Familial atrial fibrillation 'Familial atrial fibrillation' SubClassOf 'Genetic cardiac rhythm disease' 'Familial atrial fibrillation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_331 Congenital factor XIII deficiency 'Congenital factor XIII deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital factor XIII deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_330 Congenital factor XII deficiency 'Congenital factor XII deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital factor XII deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329 Congenital factor XI deficiency 'Congenital factor XI deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital factor XI deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_328 Congenital factor X deficiency 'Congenital factor X deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Congenital factor X deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93602 Xanthinuria type II 'Xanthinuria type II' SubClassOf 'Hereditary xanthinuria' 'Xanthinuria type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93601 Xanthinuria type I 'Xanthinuria type I' SubClassOf 'Hereditary xanthinuria' 'Xanthinuria type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93600 Primary hyperoxaluria type 3 'Primary hyperoxaluria type 3' SubClassOf 'Primary hyperoxaluria' 'Primary hyperoxaluria type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93608 Autosomal dominant distal renal tubular acidosis 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'Distal renal tubular acidosis' 'Autosomal dominant distal renal tubular acidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93607 Autosomal recessive proximal renal tubular acidosis 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'Proximal renal tubular acidosis' 'Autosomal recessive proximal renal tubular acidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93606 Nephrogenic syndrome of inappropriate antidiuresis 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'Genetic renal tubular disease' 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93613 Cystinuria type B 'Cystinuria type B' SubClassOf 'Cystinuria' 'Cystinuria type B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93612 Cystinuria type A 'Cystinuria type A' SubClassOf 'Cystinuria' 'Cystinuria type A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93610 Distal renal tubular acidosis with anemia 'Distal renal tubular acidosis with anemia' SubClassOf 'Distal renal tubular acidosis' 'Distal renal tubular acidosis with anemia' SubClassOf 'Genetic renal tubular disease' 'Distal renal tubular acidosis with anemia' SubClassOf 'renal tubule disease' http://www.orpha.net/ORDO/Orphanet_93616 Hemoglobin H disease 'Hemoglobin H disease' SubClassOf 'Alpha-thalassemia' 'Hemoglobin H disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_42062 Iminoglycinuria 'Iminoglycinuria' SubClassOf 'Disorder of neutral amino acid transport' 'Iminoglycinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_29072 Hereditary pheochromocytoma-paraganglioma 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'pheochromocytoma-paraganglioma' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-Hall syndrome 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0007800 chromosome 18p deletion syndrome 'chromosome 18p deletion syndrome' SubClassOf 'syndromic disease' 'chromosome 18p deletion syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007806 hypotrichosis 4 'hypotrichosis 4' SubClassOf 'hypotrichosis' 'hypotrichosis 4' SubClassOf 'hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0007820 fused mandibular incisors 'fused mandibular incisors' SubClassOf 'genetic disorder' 'fused mandibular incisors' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019804 tracheomalacia 'tracheomalacia' SubClassOf 'tracheal disorder' 'tracheomalacia' SubClassOf 'tracheal disorder' http://purl.obolibrary.org/obo/MONDO_0019803 angioma serpiginosum 'angioma serpiginosum' SubClassOf 'skin vascular disease' 'angioma serpiginosum' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0007837 Johnson neuroectodermal syndrome 'Johnson neuroectodermal syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Johnson neuroectodermal syndrome' SubClassOf 'syndromic intellectual disability' 'Johnson neuroectodermal syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Johnson neuroectodermal syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007834 islet cell adenomatosis 'islet cell adenomatosis' SubClassOf 'endocrine pancreas disorder' 'islet cell adenomatosis' SubClassOf 'endocrine pancreas disorder' http://purl.obolibrary.org/obo/MONDO_0007848 autosomal dominant keratitis 'autosomal dominant keratitis' SubClassOf 'autosomal dominant disease' 'autosomal dominant keratitis' SubClassOf 'keratitis' 'autosomal dominant keratitis' SubClassOf 'autosomal dominant disease' 'autosomal dominant keratitis' SubClassOf 'keratitis' http://purl.obolibrary.org/obo/MONDO_0007846 KBG syndrome 'KBG syndrome' SubClassOf 'syndromic intellectual disability' 'KBG syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007842 Ehlers-Danlos syndrome type 11 'Ehlers-Danlos syndrome type 11' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome type 11' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007841 coxopodopatellar syndrome 'coxopodopatellar syndrome' SubClassOf 'patellar dysostosis' 'coxopodopatellar syndrome' SubClassOf 'patellar dysostosis' http://purl.obolibrary.org/obo/MONDO_0007864 angioosteohypertrophic syndrome 'angioosteohypertrophic syndrome' SubClassOf 'skin vascular disease' 'angioosteohypertrophic syndrome' SubClassOf 'skin vascular disease' http://www.orpha.net/ORDO/Orphanet_254531 Paternal 14q32.2 hypomethylation syndrome 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_588 Muscle-eye-brain disease 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Muscle-eye-brain disease' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Muscle-eye-brain disease' SubClassOf 'Syndromic myopia' 'Muscle-eye-brain disease' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Muscle-eye-brain disease' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Muscle-eye-brain disease' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Muscle-eye-brain disease' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Muscle-eye-brain disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_586 Cystic fibrosis 'Cystic fibrosis' SubClassOf 'autosomal recessive disease' 'Cystic fibrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0056802 synovial bursa disorder 'synovial bursa disorder' SubClassOf 'synovium disorder' 'synovial bursa disorder' SubClassOf 'synovium disorder' http://purl.obolibrary.org/obo/MONDO_0007875 Larsen syndrome 'Larsen syndrome' SubClassOf 'filamin-related bone disorder' 'Larsen syndrome' SubClassOf 'filamin-related bone disorder' http://www.orpha.net/ORDO/Orphanet_585 Multiple sulfatase deficiency 'Multiple sulfatase deficiency' SubClassOf 'Neurometabolic disease' 'Multiple sulfatase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Multiple sulfatase deficiency' SubClassOf 'Sphingolipidosis' 'Multiple sulfatase deficiency' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Multiple sulfatase deficiency' SubClassOf 'Lipid storage disease' 'Multiple sulfatase deficiency' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Multiple sulfatase deficiency' SubClassOf 'Rare genetic bone disease' 'Multiple sulfatase deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_254534 Maternal 14q32.2 hypermethylation syndrome 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_584 Mucopolysaccharidosis type 7 'Mucopolysaccharidosis type 7' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 7' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_583 Mucopolysaccharidosis type 6 'Mucopolysaccharidosis type 6' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 6' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 6' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007874 trichorhinophalangeal syndrome type II 'trichorhinophalangeal syndrome type II' SubClassOf 'syndromic intellectual disability' 'trichorhinophalangeal syndrome type II' SubClassOf 'trichorhinophalangeal syndrome' 'trichorhinophalangeal syndrome type II' SubClassOf 'syndromic intellectual disability' 'trichorhinophalangeal syndrome type II' SubClassOf 'trichorhinophalangeal syndrome' http://www.orpha.net/ORDO/Orphanet_582 Mucopolysaccharidosis type 4 'Mucopolysaccharidosis type 4' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 4' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 4' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_581 Mucopolysaccharidosis type 3 'Mucopolysaccharidosis type 3' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 3' SubClassOf 'Neurometabolic disease' 'Mucopolysaccharidosis type 3' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007872 LADD syndrome 'LADD syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://www.orpha.net/ORDO/Orphanet_580 Mucopolysaccharidosis type 2 'Mucopolysaccharidosis type 2' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Mucopolysaccharidosis type 2' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Mucopolysaccharidosis type 2' SubClassOf 'Neurometabolic disease' 'Mucopolysaccharidosis type 2' SubClassOf 'Ptosis' 'Mucopolysaccharidosis type 2' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 2' SubClassOf 'Mucopolysaccharidosis with skin involvement' 'Mucopolysaccharidosis type 2' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254528 Maternal 14q32.2 microdeletion syndrome 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'Maternal 14q32.2 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_599 Distal myopathy 'Distal myopathy' SubClassOf 'Genetic skeletal muscle disease' 'Distal myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007888 hereditary leiomyomatosis and renal cell cancer 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'inherited skin tumor' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'inherited skin tumor' http://www.orpha.net/ORDO/Orphanet_598 Multiminicore myopathy 'Multiminicore myopathy' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Multiminicore myopathy' SubClassOf 'Congenital myopathy with cores' 'Multiminicore myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_597 Central core disease 'Central core disease' SubClassOf 'Congenital myopathy with cores' 'Central core disease' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy 'Centronuclear myopathy' SubClassOf 'Ptosis' 'Centronuclear myopathy' SubClassOf 'Congenital myopathy' 'Centronuclear myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007885 Legg-Calve-Perthes disease 'Legg-Calve-Perthes disease' SubClassOf 'osteonecrosis' 'Legg-Calve-Perthes disease' SubClassOf 'osteochondrosis of genetic origin' 'Legg-Calve-Perthes disease' SubClassOf 'type 2 collagenopathy' http://www.orpha.net/ORDO/Orphanet_593 Myofibrillar myopathy 'Myofibrillar myopathy' SubClassOf 'Non-dystrophic myopathy' 'Myofibrillar myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndromes 'Congenital myasthenic syndromes' SubClassOf 'Ptosis' 'Congenital myasthenic syndromes' SubClassOf 'Kinetic eyelid anomaly' http://purl.obolibrary.org/obo/MONDO_0007895 platyspondylic dysplasia, Torrance type 'platyspondylic dysplasia, Torrance type' SubClassOf 'hereditary disorder of connective tissue' 'platyspondylic dysplasia, Torrance type' SubClassOf 'type 2 collagenopathy' 'platyspondylic dysplasia, Torrance type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0007893 Noonan syndrome with multiple lentigines 'Noonan syndrome with multiple lentigines' SubClassOf 'autosomal dominant disease' 'Noonan syndrome with multiple lentigines' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007894 Leri pleonosteosis 'Leri pleonosteosis' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007892 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic intellectual disability' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia 'inherited dystonia' SubClassOf 'dystonic disorder' 'inherited dystonia' SubClassOf 'dystonic disorder' http://www.orpha.net/ORDO/Orphanet_254525 Paternal 14q32.2 microdeletion syndrome 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' 'Paternal 14q32.2 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017226 Pelizaeus-Merzbacher-like disease 'Pelizaeus-Merzbacher-like disease' SubClassOf 'leukodystrophy' 'Pelizaeus-Merzbacher-like disease' SubClassOf 'leukodystrophy' http://www.orpha.net/ORDO/Orphanet_254519 Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017222 Pelizaeus-Merzbacher disease, classic form 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizaeus-Merzbacher disease' 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizaeus-Merzbacher disease' http://www.orpha.net/ORDO/Orphanet_254516 Motor developmental delay due to 14q32.2 paternally expressed gene defect 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'Syndromic obesity' 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156071 Keratoconus 'Keratoconus' SubClassOf 'corneal disease' 'Keratoconus' SubClassOf 'Rare genetic eye disease' 'Keratoconus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003741 pooled clone sequencing 'pooled clone sequencing' SubClassOf 'assay by sequencer' 'pooled clone sequencing' SubClassOf 'assay by high throughput sequencer' http://purl.obolibrary.org/obo/MONDO_0005271 allergic disease 'allergic disease' SubClassOf 'hypersensitivity reaction disease' 'allergic disease' SubClassOf 'hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003749 MeDIP-seq 'MeDIP-seq' SubClassOf 'assay by sequencer' 'MeDIP-seq' SubClassOf 'assay by high throughput sequencer' http://www.orpha.net/ORDO/Orphanet_183666 Hyper-IgM syndrome without susceptibility to opportunistic infections 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183669 Agammaglobulinemia 'Agammaglobulinemia' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Agammaglobulinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171690 Metabolic myopathy due to lactate transporter defect 'Metabolic myopathy due to lactate transporter defect' SubClassOf 'Metabolic myopathy' 'Metabolic myopathy due to lactate transporter defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017256 idiopathic anterior uveitis 'idiopathic anterior uveitis' SubClassOf 'anterior uveitis' 'idiopathic anterior uveitis' SubClassOf 'anterior uveitis' http://www.orpha.net/ORDO/Orphanet_171695 Parkinsonian-pyramidal syndrome 'Parkinsonian-pyramidal syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Parkinsonian-pyramidal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183681 Functional neutrophil defect 'Functional neutrophil defect' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Functional neutrophil defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_624 Familial multiple nevi flammei 'Familial multiple nevi flammei' SubClassOf 'Genetic skin vascular disorder' 'Familial multiple nevi flammei' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_622 Homocystinuria without methylmalonic aciduria 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Neurometabolic disease' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Homocystinuria without methylmalonic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_621 Hereditary methemoglobinemia 'Hereditary methemoglobinemia' SubClassOf 'Hemoglobinopathy' 'Hereditary methemoglobinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_620 Common mesentery 'Common mesentery' SubClassOf 'Non-syndromic intestinal malformation' 'Common mesentery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'Genetic lipodystrophy' 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017278 autoimmune polyendocrinopathy 'autoimmune polyendocrinopathy' SubClassOf 'autoimmune disorder of endocrine system' 'autoimmune polyendocrinopathy' SubClassOf 'autoimmune disorder of endocrine system' http://purl.obolibrary.org/obo/MONDO_0017279 young-onset Parkinson disease 'young-onset Parkinson disease' SubClassOf 'Parkinson disease' 'young-onset Parkinson disease' SubClassOf 'Parkinson disease' http://www.orpha.net/ORDO/Orphanet_618 Familial melanoma 'Familial melanoma' SubClassOf 'Genetic endocrine tumor' 'Familial melanoma' SubClassOf 'familial melanoma' 'Familial melanoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_617 Congenital primary megaureter 'Congenital primary megaureter' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Congenital primary megaureter' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156159 Isolated dystonia 'Isolated dystonia' SubClassOf 'Rare genetic dystonia' 'Isolated dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_615 Familial atrial myxoma 'Familial atrial myxoma' SubClassOf 'Genetic cardiac tumor' 'Familial atrial myxoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'Isolated growth hormone deficiency type III' 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'Syndromic agammaglobulinemia' 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_631 Non-acquired isolated growth hormone deficiency 'Non-acquired isolated growth hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Non-acquired isolated growth hormone deficiency' SubClassOf 'Rare genetic hypothalamic or pituitary disease' http://www.orpha.net/ORDO/Orphanet_32960 Tumor necrosis factor receptor 1 associated periodic syndrome 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'Hereditary periodic fever syndrome' 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_629 Short stature due to growth hormone qualitative anomaly 'Short stature due to growth hormone qualitative anomaly' SubClassOf 'Non-acquired isolated growth hormone deficiency' 'Short stature due to growth hormone qualitative anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_628 Diastrophic dwarfism 'Diastrophic dwarfism' SubClassOf 'Sulfation-related bone disorder' 'Diastrophic dwarfism' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://purl.obolibrary.org/obo/MONDO_0017284 Xp22.13p22.2 duplication syndrome 'Xp22.13p22.2 duplication syndrome' SubClassOf 'syndromic intellectual disability' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_626 Large congenital melanocytic nevus 'Large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'Large congenital melanocytic nevus' SubClassOf 'Genetic skin tumor' 'Large congenital melanocytic nevus' SubClassOf 'genetic skin disease' 'Large congenital melanocytic nevus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_643 Giant axonal neuropathy 'Giant axonal neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Giant axonal neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_642 Hereditary sensory and autonomic neuropathy type 4 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_640 Hereditary neuropathy with liability to pressure palsies 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Hereditary neuropathy with liability to pressure palsies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_638 Neurofibromatosis-Noonan syndrome 'Neurofibromatosis-Noonan syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis-Noonan syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_637 Neurofibromatosis type 2 'Neurofibromatosis type 2' SubClassOf 'Syndromic genetic deafness' 'Neurofibromatosis type 2' SubClassOf 'Inherited cancer-predisposing syndrome' 'Neurofibromatosis type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_636 Neurofibromatosis type 1 'Neurofibromatosis type 1' SubClassOf 'Genetic hypertension' 'Neurofibromatosis type 1' SubClassOf 'Phakomatosis with eye involvement' 'Neurofibromatosis type 1' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis type 1' SubClassOf 'Inherited cancer-predisposing syndrome' 'Neurofibromatosis type 1' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis type 1' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Neurofibromatosis type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_657 Congenital isolated hyperinsulinism 'Congenital isolated hyperinsulinism' SubClassOf 'Familial hyperinsulinism' 'Congenital isolated hyperinsulinism' SubClassOf 'Overgrowth syndrome' 'Congenital isolated hyperinsulinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_656 Familial idiopathic steroid-resistant nephrotic syndrome 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'Primary glomerular disease' 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_655 Nephronophthisis 'Nephronophthisis' SubClassOf 'has_disease_location' some 'kidney' 'Nephronophthisis' SubClassOf 'Familial cystic renal disease' 'Nephronophthisis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_653 Multiple endocrine neoplasia type 2 'Multiple endocrine neoplasia type 2' SubClassOf 'thyroid carcinoma' 'Multiple endocrine neoplasia type 2' SubClassOf 'Multiple endocrine neoplasia' 'Multiple endocrine neoplasia type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_652 Multiple endocrine neoplasia type 1 'Multiple endocrine neoplasia type 1' SubClassOf 'Multiple endocrine neoplasia' 'Multiple endocrine neoplasia type 1' SubClassOf 'neoplasm' 'Multiple endocrine neoplasia type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0042233 disseminated candidiasis 'disseminated candidiasis' SubClassOf 'candidiasis' 'disseminated candidiasis' SubClassOf 'candidiasis' http://www.orpha.net/ORDO/Orphanet_667 Autosomal recessive malignant osteopetrosis 'Autosomal recessive malignant osteopetrosis' SubClassOf 'Osteopetrosis' 'Autosomal recessive malignant osteopetrosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta 'Osteogenesis imperfecta' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Osteogenesis imperfecta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_665 Albright hereditary osteodystrophy 'Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' 'Albright hereditary osteodystrophy' SubClassOf 'Genetic renal tubular disease' 'Albright hereditary osteodystrophy' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Albright hereditary osteodystrophy' SubClassOf 'genetic hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_663 Maternally-inherited progressive external ophthalmoplegia 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial disease with eye involvement' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Syndrome with a symptomatic strabismus' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Ptosis' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial myopathy' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_679 Malignant atrophic papulosis 'Malignant atrophic papulosis' SubClassOf 'Genetic porokeratosis' 'Malignant atrophic papulosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_678 Papillon-Lefèvre syndrome 'Papillon-Lefèvre syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Papillon-Lefèvre syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Papillon-Lefèvre syndrome' SubClassOf 'Functional neutrophil defect' 'Papillon-Lefèvre syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Papillon-Lefèvre syndrome' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Papillon-Lefèvre syndrome' SubClassOf 'inborn errors of metabolism' 'Papillon-Lefèvre syndrome' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://www.orpha.net/ORDO/Orphanet_676 Hereditary chronic pancreatitis 'Hereditary chronic pancreatitis' SubClassOf 'Genetic pancreatic disease' 'Hereditary chronic pancreatitis' SubClassOf 'Rare genetic diabetes mellitus' 'Hereditary chronic pancreatitis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_675 Annular pancreas 'Annular pancreas' SubClassOf 'Non-syndromic visceral malformation' 'Annular pancreas' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_674 Accessory pancreas 'Accessory pancreas' SubClassOf 'Non-syndromic visceral malformation' 'Accessory pancreas' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia 'Hereditary spastic paraplegia' SubClassOf 'Genetic neurodegenerative disease' 'Hereditary spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_684 Paramyotonia congenita of Von Eulenburg 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'Genetic muscular channelopathy' 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'Myotonic syndrome' 'Paramyotonia congenita of Von Eulenburg' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_683 Progressive supranuclear palsy 'Progressive supranuclear palsy' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) 'Progressive supranuclear palsy' SubClassOf 'Supranuclear oculomotor palsy' 'Progressive supranuclear palsy' SubClassOf 'tauopathy' 'Progressive supranuclear palsy' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Progressive supranuclear palsy' SubClassOf 'mental or behavioural disorder' 'Progressive supranuclear palsy' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Progressive supranuclear palsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_682 Hyperkalemic periodic paralysis 'Hyperkalemic periodic paralysis' SubClassOf 'Genetic muscular channelopathy' 'Hyperkalemic periodic paralysis' SubClassOf 'Genetic periodic paralysis' 'Hyperkalemic periodic paralysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_681 Hypokalemic periodic paralysis 'Hypokalemic periodic paralysis' SubClassOf 'Genetic muscular channelopathy' 'Hypokalemic periodic paralysis' SubClassOf 'Genetic periodic paralysis' 'Hypokalemic periodic paralysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183707 Neutrophil immunodeficiency syndrome 'Neutrophil immunodeficiency syndrome' SubClassOf 'Functional neutrophil defect' 'Neutrophil immunodeficiency syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001030 RNAi profiling by array 'RNAi profiling by array' SubClassOf 'assay by array' http://www.ebi.ac.uk/efo/EFO_0001031 tiling path by array 'tiling path by array' SubClassOf 'assay by array' http://www.ebi.ac.uk/efo/EFO_0001033 translation profiling 'translation profiling' SubClassOf 'experimental process' 'translation profiling' SubClassOf 'assay by array' 'translation profiling' SubClassOf 'RNA assay' http://www.orpha.net/ORDO/Orphanet_217566 Chronic respiratory distress with surfactant metabolism deficiency 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'Genetic interstitial lung disease' 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183713 Pyogenic bacterial infections due to MyD88 deficiency 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001061 cervical carcinoma 'cervical carcinoma' SubClassOf 'cervical cancer' 'cervical carcinoma' SubClassOf 'cervical cancer' http://www.orpha.net/ORDO/Orphanet_93964 Blepharospasm - oromandibular dystonia 'Blepharospasm - oromandibular dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' 'Blepharospasm - oromandibular dystonia' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_30391 Biliary atresia 'Biliary atresia' SubClassOf 'liver disease' 'Biliary atresia' SubClassOf 'biliary tract disease' 'Biliary atresia' SubClassOf 'has_disease_location' some 'bile duct' 'Biliary atresia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001067 parasitic infection 'parasitic infection' SubClassOf 'infectious disease' 'parasitic infection' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'Peripheral hypothyroidism' 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171709 Male infertility due to globozoospermia 'Male infertility due to globozoospermia' SubClassOf 'realized in' some ('disease course' and ('has_quality' some 'abnormal') and ('has_disease_location' some 'sperm')) 'Male infertility due to globozoospermia' SubClassOf 'Male infertility with teratozoospermia due to single gene mutation' 'Male infertility due to globozoospermia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93969 Myelomeningocele 'Myelomeningocele' SubClassOf 'Spina bifida cystica' 'Myelomeningocele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352636 Phalangeal microgeodic syndrome 'Phalangeal microgeodic syndrome' SubClassOf 'Primary osteolysis' 'Phalangeal microgeodic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352641 Autosomal recessive cerebellar ataxia with late-onset spasticity 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Sphingolipidosis' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93976 Anotia 'Anotia' SubClassOf 'Inherited cancer-predisposing syndrome' 'Anotia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001056 tuberculoid leprosy 'tuberculoid leprosy' SubClassOf 'leprosy' 'tuberculoid leprosy' SubClassOf 'leprosy' http://www.ebi.ac.uk/efo/EFO_0001055 borderline leprosy 'borderline leprosy' SubClassOf 'leprosy' 'borderline leprosy' SubClassOf 'leprosy' http://www.ebi.ac.uk/efo/EFO_0001057 lepromatous leprosy 'lepromatous leprosy' SubClassOf 'leprosy' 'lepromatous leprosy' SubClassOf 'leprosy' http://www.orpha.net/ORDO/Orphanet_352649 Brain dopamine-serotonin vesicular transport disease 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'Persistent combined dystonia' 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Brain dopamine-serotonin vesicular transport disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352657 Hereditary benign intraepithelial dyskeratosis 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'Superficial corneal dystrophy' 'Hereditary benign intraepithelial dyskeratosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_54370 Primary membranoproliferative glomerulonephritis 'Primary membranoproliferative glomerulonephritis' SubClassOf 'Primary glomerular disease' 'Primary membranoproliferative glomerulonephritis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352662 Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'Superficial corneal dystrophy' 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'corneal disease' 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'Rare genetic eye disease' http://www.ebi.ac.uk/efo/EFO_0001074 morbid obesity 'morbid obesity' SubClassOf 'obesity' 'morbid obesity' SubClassOf 'obesity' http://www.ebi.ac.uk/efo/EFO_0001076 Pseudomonas infection 'Pseudomonas infection' SubClassOf 'bacterial disease' 'Pseudomonas infection' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0001075 ovarian carcinoma 'ovarian carcinoma' SubClassOf 'Malignant epithelial tumor of ovary' http://www.orpha.net/ORDO/Orphanet_352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'hereditary motor neuron disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'Rare genetic neurological disorder' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'has_disease_location' some 'motor neuron' http://www.orpha.net/ORDO/Orphanet_93921 Neurofibromatosis type 3 'Neurofibromatosis type 3' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis type 3' SubClassOf 'Inherited cancer-predisposing syndrome' 'Neurofibromatosis type 3' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93929 Cloacal exstrophy 'Cloacal exstrophy' SubClassOf 'Exstrophy-epispadias complex' 'Cloacal exstrophy' SubClassOf 'Syndromic anorectal malformation' 'Cloacal exstrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93928 Epispadias 'Epispadias' SubClassOf 'Exstrophy-epispadias complex' 'Epispadias' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93926 Midline interhemispheric variant of holoprosencephaly 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Midline interhemispheric variant of holoprosencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93925 Alobar holoprosencephaly 'Alobar holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Alobar holoprosencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93924 Lobar holoprosencephaly 'Lobar holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Lobar holoprosencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Cobblestone lissencephaly' 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_352682 Cobblestone lissencephaly without muscular or ocular involvement 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'Cobblestone lissencephaly' 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93930 Bladder exstrophy 'Bladder exstrophy' SubClassOf 'kidney disease' 'Bladder exstrophy' SubClassOf 'Exstrophy-epispadias complex' 'Bladder exstrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93937 Terminal transverse defects of arm 'Terminal transverse defects of arm' SubClassOf 'Amniotic bands' 'Terminal transverse defects of arm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_602 Distal myopathy, Nonaka type 'Distal myopathy, Nonaka type' SubClassOf 'Autosomal recessive distal myopathy' 'Distal myopathy, Nonaka type' SubClassOf 'Disorder of multiple glycosylation' 'Distal myopathy, Nonaka type' SubClassOf 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' 'Distal myopathy, Nonaka type' SubClassOf 'Inclusion myopathy' 'Distal myopathy, Nonaka type' SubClassOf 'Genetic skeletal muscle disease' 'Distal myopathy, Nonaka type' SubClassOf 'inborn errors of metabolism' 'Distal myopathy, Nonaka type' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'Distal myopathy, Nonaka type' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_600 Distal myopathy with vocal cord weakness 'Distal myopathy with vocal cord weakness' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy with vocal cord weakness' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93947 X-linked intellectual disability, Golabi-Ito-Hall type 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'Renpenning syndrome' 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93946 Hamel cerebro-palato-cardiac syndrome 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome' 'Hamel cerebro-palato-cardiac syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93956 Truncal dystonia 'Truncal dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' 'Truncal dystonia' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_612 Potassium-aggravated myotonia 'Potassium-aggravated myotonia' SubClassOf 'Genetic muscular channelopathy' 'Potassium-aggravated myotonia' SubClassOf 'Myotonic syndrome' 'Potassium-aggravated myotonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93955 Benign essential blepharospasm 'Benign essential blepharospasm' SubClassOf 'Focal, segmental or multifocal dystonia' 'Benign essential blepharospasm' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_93958 Oromandibular dystonia 'Oromandibular dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' 'Oromandibular dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93957 Limb dystonia 'Limb dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' 'Limb dystonia' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_609 Tibial muscular dystrophy 'Tibial muscular dystrophy' SubClassOf 'Autosomal dominant distal myopathy' 'Tibial muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of titin' 'Tibial muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy 'Nemaline myopathy' SubClassOf 'Congenital myopathy' 'Nemaline myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_606 Proximal myotonic myopathy 'Proximal myotonic myopathy' SubClassOf 'Myotonic dystrophy' 'Proximal myotonic myopathy' SubClassOf 'Ptosis' 'Proximal myotonic myopathy' SubClassOf 'Genetic skeletal muscle disease' 'Proximal myotonic myopathy' SubClassOf 'Kinetic eyelid anomaly' http://purl.obolibrary.org/obo/MONDO_0007906 familial partial lipodystrophy, Dunnigan type 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'familial partial lipodystrophy' 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'familial partial lipodystrophy' http://www.orpha.net/ORDO/Orphanet_603 Distal myopathy, Welander type 'Distal myopathy, Welander type' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy, Welander type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007700 hawkinsinuria 'hawkinsinuria' SubClassOf 'disorder of tyrosine metabolism' 'hawkinsinuria' SubClassOf 'disorder of tyrosine metabolism' http://www.orpha.net/ORDO/Orphanet_352709 CLN13 disease 'CLN13 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN13 disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'CLN13 disease' SubClassOf 'Progressive myoclonic epilepsy' 'CLN13 disease' SubClassOf 'Lysosomal disease' 'CLN13 disease' SubClassOf 'Genetic neurodegenerative disease' 'CLN13 disease' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.orpha.net/ORDO/Orphanet_352718 Progressive retinal dystrophy due to retinol transport defect 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'Retinal dystrophy' 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'participates_in' some ('vitamin transport' and ('has component' some 'abnormal')) 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352723 Attenuated Chédiak-Higashi syndrome 'Attenuated Chédiak-Higashi syndrome' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Attenuated Chédiak-Higashi syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Attenuated Chédiak-Higashi syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007726 hip dysplasia, Beukes type 'hip dysplasia, Beukes type' SubClassOf 'genetic disorder' 'hip dysplasia, Beukes type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome 'hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_352728 Disorder of melanin metabolism 'Disorder of melanin metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of melanin metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352734 Minimal pigment oculocutaneous albinism type 1 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism type 1' 'Minimal pigment oculocutaneous albinism type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis 'primary osteolysis' SubClassOf 'primary bone dysplasia' 'primary osteolysis' SubClassOf 'primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_352731 Oculocutaneous albinism type 1 'Oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019701 chondrodysplasia punctata 'chondrodysplasia punctata' SubClassOf 'primary bone dysplasia' 'chondrodysplasia punctata' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019702 neonatal osteosclerotic dysplasia 'neonatal osteosclerotic dysplasia' SubClassOf 'primary bone dysplasia' 'neonatal osteosclerotic dysplasia' SubClassOf 'osteochondrodysplasia' 'neonatal osteosclerotic dysplasia' SubClassOf 'primary bone dysplasia' 'neonatal osteosclerotic dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007738 spondyloepiphyseal dysplasia with congenital joint dislocations 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'sulfation-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0007732 Holt-Oram syndrome 'Holt-Oram syndrome' SubClassOf 'autosomal dominant disease' 'Holt-Oram syndrome' SubClassOf 'syndromic disease' 'Holt-Oram syndrome' SubClassOf 'autosomal dominant disease' 'Holt-Oram syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Holt-Oram syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_352737 Temperature-sensitive oculocutaneous albinism type 1 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism type 1' 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352745 Oculocutaneous albinism type 7 'Oculocutaneous albinism type 7' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019712 patellar dysostosis 'patellar dysostosis' SubClassOf 'primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_352740 Ocular albinism with congenital sensorineural deafness 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'Ocular albinism' 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'Pigmentation disorder with eye involvement' 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019713 non-syndromic limb reduction defect 'non-syndromic limb reduction defect' SubClassOf 'primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_91132 Ichthyosis-hypotrichosis syndrome 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'Alopecia' 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_91130 Cardiomyopathy - hypotonia - lactic acidosis 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Mitochondrial substrate carrier disorder' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Disorder of energy metabolism' http://www.orpha.net/ORDO/Orphanet_91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'Genetic dermis elastic tissue disorder' 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91133 Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0007744 cholesterol-ester transfer protein deficiency 'cholesterol-ester transfer protein deficiency' SubClassOf 'hyperalphalipoproteinemia' 'cholesterol-ester transfer protein deficiency' SubClassOf 'hyperalphalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0007741 congenital hydronephrosis 'congenital hydronephrosis' SubClassOf 'hydronephrosis' 'congenital hydronephrosis' SubClassOf 'hydronephrosis' http://www.orpha.net/ORDO/Orphanet_469 Hereditary fructose intolerance 'Hereditary fructose intolerance' SubClassOf 'Disorder of fructose metabolism' 'Hereditary fructose intolerance' SubClassOf 'Rare metabolic liver disease' 'Hereditary fructose intolerance' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hereditary fructose intolerance' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Hereditary fructose intolerance' SubClassOf 'Congenital intestinal transport defect' 'Hereditary fructose intolerance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_467 Non-acquired combined pituitary hormone deficiency 'Non-acquired combined pituitary hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Non-acquired combined pituitary hormone deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_466 Fatal familial insomnia 'Fatal familial insomnia' SubClassOf 'Genetic dementia' 'Fatal familial insomnia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_465 Congenital plasminogen activator inhibitor type 1 deficiency 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_464 Incontinentia pigmenti 'Incontinentia pigmenti' SubClassOf 'Congenital vitreoretinal dysplasia' 'Incontinentia pigmenti' SubClassOf 'X-linked syndromic intellectual disability' 'Incontinentia pigmenti' SubClassOf 'Ectodermal dysplasia syndrome' 'Incontinentia pigmenti' SubClassOf 'Dentocutaneous disease with cataract' 'Incontinentia pigmenti' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Incontinentia pigmenti' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Incontinentia pigmenti' SubClassOf 'Precancerous lesion of palpebral epidermis' 'Incontinentia pigmenti' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_461 Recessive X-linked ichthyosis 'Recessive X-linked ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Recessive X-linked ichthyosis' SubClassOf 'Syndromic corneal dystrophy' 'Recessive X-linked ichthyosis' SubClassOf 'Ichthyosis associated with ocular features' 'Recessive X-linked ichthyosis' SubClassOf 'Metabolic disease with corneal opacity' 'Recessive X-linked ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019738 atypical hemolytic-uremic syndrome with H factor anomaly 'atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'atypical hemolytic-uremic syndrome' 'atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies 'atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'atypical hemolytic-uremic syndrome' 'atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_398088 Hereditary cryohydrocytosis with normal stomatin 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'Hereditary stomatocytosis' 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://purl.obolibrary.org/obo/MONDO_0007768 hyperparathyroidism 2 with jaw tumors 'hyperparathyroidism 2 with jaw tumors' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800096 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'bone neoplasm' 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0007764 autosomal dominant osteosclerosis, Worth type 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'genetic disorder' 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'bone disease' 'autosomal dominant osteosclerosis, Worth type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'hyperostosis' http://www.orpha.net/ORDO/Orphanet_470 Lysinuric protein intolerance 'Lysinuric protein intolerance' SubClassOf 'Disorder of amino acid absorption and transport' 'Lysinuric protein intolerance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'Rare hereditary thrombophilia' 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020723 vitamin D-dependent rickets, type 1A 'vitamin D-dependent rickets, type 1A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800096 http://purl.obolibrary.org/obo/MONDO_0020721 X-linked sideroblastic anemia 1 'X-linked sideroblastic anemia 1' SubClassOf 'inborn disorder of porphyrin metabolism' 'X-linked sideroblastic anemia 1' SubClassOf 'inborn disorder of porphyrin metabolism' http://purl.obolibrary.org/obo/MONDO_0019740 acquired thrombotic thrombocytopenic purpura 'acquired thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' 'acquired thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' http://www.orpha.net/ORDO/Orphanet_488 Urachal cyst 'Urachal cyst' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Urachal cyst' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_486 Autosomal dominant severe congenital neutropenia 'Autosomal dominant severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia' 'Autosomal dominant severe congenital neutropenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_483 Congenital high-molecular-weight kininogen deficiency 'Congenital high-molecular-weight kininogen deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital high-molecular-weight kininogen deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_325124 Testicular agenesis 'Testicular agenesis' SubClassOf '46,XX disorder of gonadal development' 'Testicular agenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' 'Testicular agenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019756 lobar holoprosencephaly 'lobar holoprosencephaly' SubClassOf 'holoprosencephaly' 'lobar holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0019757 alobar holoprosencephaly 'alobar holoprosencephaly' SubClassOf 'holoprosencephaly' 'alobar holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0005129 cataract 'cataract' SubClassOf 'lens disease' 'cataract' SubClassOf 'lens disease' http://www.orpha.net/ORDO/Orphanet_498 Keratosis pilaris atrophicans 'Keratosis pilaris atrophicans' SubClassOf 'Other genetic epidermal disease' 'Keratosis pilaris atrophicans' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007788 hypertriglyceridemia, familial 'hypertriglyceridemia, familial' SubClassOf 'Hypertriglyceridemia' 'hypertriglyceridemia, familial' SubClassOf 'Hypertriglyceridemia' http://www.orpha.net/ORDO/Orphanet_495 Transgrediens et progrediens palmoplantar keratoderma 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_494 Keratoderma hereditarium mutilans 'Keratoderma hereditarium mutilans' SubClassOf 'Syndromic genetic deafness' 'Keratoderma hereditarium mutilans' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratoderma hereditarium mutilans' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_493 Familial keratoacanthoma 'Familial keratoacanthoma' SubClassOf 'epithelial neoplasm' 'Familial keratoacanthoma' SubClassOf 'Genetic skin tumor' 'Familial keratoacanthoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044743 major salivary gland cancer 'major salivary gland cancer' SubClassOf 'salivary gland cancer' 'major salivary gland cancer' SubClassOf 'neoplasm of major salivary gland' 'major salivary gland cancer' SubClassOf 'salivary gland cancer' 'major salivary gland cancer' SubClassOf 'neoplasm of major salivary gland' http://purl.obolibrary.org/obo/MONDO_0007793 hypochondroplasia 'hypochondroplasia' SubClassOf 'genetic disorder' 'hypochondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'hypochondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007791 familial hypocalciuric hypercalcemia 1 'familial hypocalciuric hypercalcemia 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800096 http://purl.obolibrary.org/obo/MONDO_0044744 prekallikrein deficiency 'prekallikrein deficiency' SubClassOf 'blood coagulation disease' 'prekallikrein deficiency' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0005148 type 2 diabetes mellitus 'type 2 diabetes mellitus' SubClassOf 'diabetes mellitus' 'type 2 diabetes mellitus' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0005147 type 1 diabetes mellitus 'type 1 diabetes mellitus' SubClassOf 'diabetes mellitus' 'type 1 diabetes mellitus' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_183583 Genetic head and neck malformation 'Genetic head and neck malformation' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Genetic head and neck malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044750 lassa virus infectious disease 'lassa virus infectious disease' SubClassOf 'Arenaviridae infectious disease' 'lassa virus infectious disease' SubClassOf 'Arenaviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'arthrogryposis multiplex congenita 2, neurogenic type' 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'arthrogryposis multiplex congenita 2, neurogenic type' http://purl.obolibrary.org/obo/MONDO_0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia 'severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia' SubClassOf 'syndromic intellectual disability' 'severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019799 hepatoerythropoietic porphyria 'hepatoerythropoietic porphyria' SubClassOf 'porphyria cutanea tarda' 'hepatoerythropoietic porphyria' SubClassOf 'porphyria cutanea tarda' http://purl.obolibrary.org/obo/MONDO_0044724 3-methylglutaconic aciduria type 9 '3-methylglutaconic aciduria type 9' SubClassOf 'syndromic intellectual disability' '3-methylglutaconic aciduria type 9' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017136 omodysplasia 'omodysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044738 Gabriele de Vries syndrome 'Gabriele de Vries syndrome' SubClassOf 'syndromic intellectual disability' 'Gabriele de Vries syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_503 Autosomal dominant Larsen syndrome 'Autosomal dominant Larsen syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Autosomal dominant Larsen syndrome' SubClassOf 'Orofacial clefting syndrome' 'Autosomal dominant Larsen syndrome' SubClassOf 'Filamin-related bone disorder' 'Autosomal dominant Larsen syndrome' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Autosomal dominant Larsen syndrome' SubClassOf 'Primary bone dysplasia' 'Autosomal dominant Larsen syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_502 Langer-Giedion syndrome 'Langer-Giedion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' 'Langer-Giedion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Langer-Giedion syndrome' SubClassOf 'Trichorhinophalangeal syndrome' 'Langer-Giedion syndrome' SubClassOf 'Primary bone dysplasia' 'Langer-Giedion syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Langer-Giedion syndrome' SubClassOf 'Partial autosomal monosomy' 'Langer-Giedion syndrome' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_512 Metachromatic leukodystrophy 'Metachromatic leukodystrophy' SubClassOf 'Metabolic disease with dementia' 'Metachromatic leukodystrophy' SubClassOf 'Leukodystrophy' 'Metachromatic leukodystrophy' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Metachromatic leukodystrophy' SubClassOf 'Sphingolipidosis' 'Metachromatic leukodystrophy' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Metachromatic leukodystrophy' SubClassOf 'Neurometabolic disease' 'Metachromatic leukodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_511 Maple syrup urine disease 'Maple syrup urine disease' SubClassOf 'Disorder of branched-chain amino acid metabolism' 'Maple syrup urine disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183660 Severe combined immunodeficiency 'Severe combined immunodeficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Severe combined immunodeficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044792 large congenital melanocytic nevus 'large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'large congenital melanocytic nevus' SubClassOf 'inherited skin tumor' 'large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'large congenital melanocytic nevus' SubClassOf 'inherited skin tumor' http://www.orpha.net/ORDO/Orphanet_183663 Hyper-IgM syndrome with susceptibility to opportunistic infections 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'Combined T and B cell immunodeficiency' 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_158687 Lethal acantholytic epidermolysis bullosa 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'Suprabasal epidermolysis bullosa simplex' 'Lethal acantholytic epidermolysis bullosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171680 Lissencephaly due to TUBA1A mutation 'Lissencephaly due to TUBA1A mutation' SubClassOf 'Lissencephaly' 'Lissencephaly due to TUBA1A mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_508 Leprechaunism 'Leprechaunism' SubClassOf 'Hypertrichosis' 'Leprechaunism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Leprechaunism' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Leprechaunism' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_523 Hereditary leiomyomatosis and renal cell cancer 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'Genetic soft tissue tumor' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'Genetic skin tumor' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'renal leiomyoma' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'inherited soft tissue tumor' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome 'steroid-resistant nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'steroid-resistant nephrotic syndrome' SubClassOf 'nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0017174 Machado-Joseph disease type 1 'Machado-Joseph disease type 1' SubClassOf 'Machado-Joseph disease' 'Machado-Joseph disease type 1' SubClassOf 'Machado-Joseph disease' http://purl.obolibrary.org/obo/MONDO_0017175 Machado-Joseph disease type 2 'Machado-Joseph disease type 2' SubClassOf 'Machado-Joseph disease' 'Machado-Joseph disease type 2' SubClassOf 'Machado-Joseph disease' http://purl.obolibrary.org/obo/MONDO_0017176 Machado-Joseph disease type 3 'Machado-Joseph disease type 3' SubClassOf 'Machado-Joseph disease' 'Machado-Joseph disease type 3' SubClassOf 'Machado-Joseph disease' http://www.orpha.net/ORDO/Orphanet_534 Oculocerebrorenal syndrome 'Oculocerebrorenal syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrorenal syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Oculocerebrorenal syndrome' SubClassOf 'Renal disease with cataract' 'Oculocerebrorenal syndrome' SubClassOf 'Metabolic disease with cataract' 'Oculocerebrorenal syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Oculocerebrorenal syndrome' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Oculocerebrorenal syndrome' SubClassOf 'Genetic renal tubular disease' 'Oculocerebrorenal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_531 Miller-Dieker syndrome 'Miller-Dieker syndrome' SubClassOf 'Classic lissencephaly' 'Miller-Dieker syndrome' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_530 Lipoid proteinosis 'Lipoid proteinosis' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Lipoid proteinosis' SubClassOf 'inherited epidermolysis bullosa' 'Lipoid proteinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217407 Hereditary hypotrichosis with recurrent skin vesicles 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'Alopecia' 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171622 Autosomal recessive spastic paraplegia type 32 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_171629 Autosomal recessive spastic paraplegia type 35 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_398166 Focal facial dermal dysplasia 'Focal facial dermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Focal facial dermal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'retinopathy' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'retinopathy' http://www.orpha.net/ORDO/Orphanet_538 Lymphangioleiomyomatosis 'Lymphangioleiomyomatosis' SubClassOf 'Rare genetic respiratory disease' 'Lymphangioleiomyomatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017198 osteopetrosis 'osteopetrosis' SubClassOf 'primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_557 Isolated anorectal malformation 'Isolated anorectal malformation' SubClassOf 'Anorectal malformation' 'Isolated anorectal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_551 MERRF 'MERRF' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_550 MELAS 'MELAS' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_44890 Gastrointestinal stromal tumor 'Gastrointestinal stromal tumor' SubClassOf 'Genetic digestive tract tumor' 'Gastrointestinal stromal tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_398173 Focal facial dermal dysplasia type II 'Focal facial dermal dysplasia type II' SubClassOf 'Focal facial dermal dysplasia' 'Focal facial dermal dysplasia type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_569 Familial or sporadic hemiplegic migraine 'Familial or sporadic hemiplegic migraine' SubClassOf 'Benign partial infantile seizures' 'Familial or sporadic hemiplegic migraine' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial or sporadic hemiplegic migraine' SubClassOf 'Rare genetic headache' 'Familial or sporadic hemiplegic migraine' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_568 Microphthalmia, Lenz type 'Microphthalmia, Lenz type' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia, Lenz type' SubClassOf 'Non-syndromic developmental defect of the eye' 'Microphthalmia, Lenz type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Microphthalmia, Lenz type' SubClassOf 'Lens shape anomaly' 'Microphthalmia, Lenz type' SubClassOf 'X-linked syndromic intellectual disability' 'Microphthalmia, Lenz type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_566 Congenital microcoria 'Congenital microcoria' SubClassOf 'Non-syndromic developmental defect of the eye' 'Congenital microcoria' SubClassOf 'Iridogoniodysgenesis' 'Congenital microcoria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_158676 Dystrophic epidermolysis bullosa, nails only 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'Dystrophic epidermolysis bullosa' 'Dystrophic epidermolysis bullosa, nails only' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_158673 Acral dystrophic epidermolysis bullosa 'Acral dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Acral dystrophic epidermolysis bullosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'Syndromic epicanthus' 'Marinesco-Sjögren syndrome' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Marinesco-Sjögren syndrome' SubClassOf 'Rare palpebral disease' 'Marinesco-Sjögren syndrome' SubClassOf 'Rare hereditary ataxia' 'Marinesco-Sjögren syndrome' SubClassOf 'Early-onset ataxia with dementia' 'Marinesco-Sjögren syndrome' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' http://www.orpha.net/ORDO/Orphanet_579 Mucopolysaccharidosis type 1 'Mucopolysaccharidosis type 1' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 1' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 1' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 1' SubClassOf 'Eyebrow hypertrophy' 'Mucopolysaccharidosis type 1' SubClassOf 'Neurometabolic disease' 'Mucopolysaccharidosis type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171612 Autosomal dominant spastic paraplegia type 37 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_578 Mucolipidosis type IV 'Mucolipidosis type IV' SubClassOf 'Metabolic disease with corneal opacity' 'Mucolipidosis type IV' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Mucolipidosis type IV' SubClassOf 'Mucolipidosis' 'Mucolipidosis type IV' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_577 Mucolipidosis type III 'Mucolipidosis type III' SubClassOf 'Mucolipidosis' 'Mucolipidosis type III' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucolipidosis type III' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_574 Monosomy 21 'Monosomy 21' SubClassOf 'Total autosomal monosomy' 'Monosomy 21' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_573 Monilethrix 'Monilethrix' SubClassOf 'Isolated hair shaft abnormality' 'Monilethrix' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171617 Autosomal dominant spastic paraplegia type 38 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_570 Moebius syndrome 'Moebius syndrome' SubClassOf 'Nuclear oculomotor paralysis' 'Moebius syndrome' SubClassOf 'Paralytic facial malformation' 'Moebius syndrome' SubClassOf 'Cranial nerve and nuclear aplasia' 'Moebius syndrome' SubClassOf 'Genetic non-syndromic central nervous system malformation' 'Moebius syndrome' SubClassOf 'Oculomotor palsy' http://www.orpha.net/ORDO/Orphanet_158665 Basal epidermolysis bullosa simplex 'Basal epidermolysis bullosa simplex' SubClassOf 'Epidermolysis bullosa simplex' 'Basal epidermolysis bullosa simplex' SubClassOf 'Genetic epidermal disorder' http://www.orpha.net/ORDO/Orphanet_158668 Epidermolysis bullosa simplex due to plakophilin deficiency 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Ectodermal dysplasia syndrome' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Suprabasal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0056799 synovium disorder 'synovium disorder' SubClassOf 'musculoskeletal system disease' 'synovium disorder' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_158661 Suprabasal epidermolysis bullosa simplex 'Suprabasal epidermolysis bullosa simplex' SubClassOf 'Epidermolysis bullosa simplex' 'Suprabasal epidermolysis bullosa simplex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156005 Primary glaucoma 'Primary glaucoma' SubClassOf 'Hereditary glaucoma' 'Primary glaucoma' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_398156 Oculoauriculofrontonasal syndrome 'Oculoauriculofrontonasal syndrome' SubClassOf 'Frontonasal dysplasia' 'Oculoauriculofrontonasal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_54247 Posterior cortical atrophy 'Posterior cortical atrophy' SubClassOf 'mental or behavioural disorder' 'Posterior cortical atrophy' SubClassOf 'Genetic neurodegenerative disease' 'Posterior cortical atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_376724 Generalized isolated dystonia 'Generalized isolated dystonia' SubClassOf 'Isolated dystonia' 'Generalized isolated dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_54260 Left ventricular noncompaction 'Left ventricular noncompaction' SubClassOf 'Rare genetic cardiac disease' 'Left ventricular noncompaction' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276161 Multiple endocrine neoplasia 'Multiple endocrine neoplasia' SubClassOf 'multiple polyglandular tumor' 'Multiple endocrine neoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93218 Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93216 Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93214 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276152 Multiple endocrine neoplasia type 4 'Multiple endocrine neoplasia type 4' SubClassOf 'Multiple endocrine neoplasia' 'Multiple endocrine neoplasia type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93222 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Genetic glomerular disease' http://www.orpha.net/ORDO/Orphanet_93221 Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'Genetic glomerular disease' http://www.orpha.net/ORDO/Orphanet_93220 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007606 fibrodysplasia ossificans progressiva 'fibrodysplasia ossificans progressiva' SubClassOf 'genetic disorder' 'fibrodysplasia ossificans progressiva' SubClassOf 'has modifier' some 'rare' 'fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://purl.obolibrary.org/obo/MONDO_0007607 Birt-Hogg-Dube syndrome 'Birt-Hogg-Dube syndrome' SubClassOf 'inherited skin tumor' 'Birt-Hogg-Dube syndrome' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0007604 femoral-facial syndrome 'femoral-facial syndrome' SubClassOf 'dysostosis of genetic origin' 'femoral-facial syndrome' SubClassOf 'congenital limb malformation' 'femoral-facial syndrome' SubClassOf 'non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_276193 Spinocerebellar ataxia type 35 'Spinocerebellar ataxia type 35' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 35' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276198 Spinocerebellar ataxia type 36 'Spinocerebellar ataxia type 36' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 36' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007615 laurin-Sandrow syndrome 'laurin-Sandrow syndrome' SubClassOf 'genetic disorder' 'laurin-Sandrow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800066 http://purl.obolibrary.org/obo/MONDO_0007614 congenital fibrosis of extraocular muscles 'congenital fibrosis of extraocular muscles' SubClassOf 'ocular motility disease' 'congenital fibrosis of extraocular muscles' SubClassOf 'ocular motility disease' http://purl.obolibrary.org/obo/MONDO_0007610 gingival fibromatosis-hypertrichosis syndrome 'gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'hypertrichosis' 'gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'hypertrichosis' http://www.orpha.net/ORDO/Orphanet_276183 Spinocerebellar ataxia type 32 'Spinocerebellar ataxia type 32' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 32' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003902 spinal fracture 'spinal fracture' SubClassOf 'bone fracture' 'spinal fracture' SubClassOf 'bone fracture' http://purl.obolibrary.org/obo/MONDO_0007621 floating-Harbor syndrome 'floating-Harbor syndrome' SubClassOf 'syndromic intellectual disability' 'floating-Harbor syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome 'osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum 'xeroderma pigmentosum' SubClassOf 'DNA repair deficiency' 'xeroderma pigmentosum' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0007635 Frasier syndrome 'Frasier syndrome' SubClassOf 'syndromic disease' 'Frasier syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007636 frontorhiny 'frontorhiny' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://www.ebi.ac.uk/efo/EFO_1001950 colon carcinoma 'colon carcinoma' SubClassOf 'malignant colon neoplasm' 'colon carcinoma' SubClassOf 'malignant colon neoplasm' http://www.ebi.ac.uk/efo/EFO_1001956 gallbladder carcinoma 'gallbladder carcinoma' SubClassOf 'gallbladder cancer' 'gallbladder carcinoma' SubClassOf 'gallbladder cancer' http://www.ebi.ac.uk/efo/EFO_1001955 erythroleukemia 'erythroleukemia' SubClassOf 'acute erythroleukemia, familial' http://www.ebi.ac.uk/efo/EFO_0003928 necrotizing enterocolitis 'necrotizing enterocolitis' SubClassOf 'intestinal disease' 'necrotizing enterocolitis' SubClassOf 'enterocolitis' 'necrotizing enterocolitis' SubClassOf 'intestinal disease' 'necrotizing enterocolitis' SubClassOf 'enterocolitis' http://www.orpha.net/ORDO/Orphanet_93299 Achondrogenesis type 1A 'Achondrogenesis type 1A' SubClassOf 'Achondrogenesis' 'Achondrogenesis type 1A' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93298 Achondrogenesis type 1B 'Achondrogenesis type 1B' SubClassOf 'Sulfation-related bone disorder' 'Achondrogenesis type 1B' SubClassOf 'Achondrogenesis' 'Achondrogenesis type 1B' SubClassOf 'Primary bone dysplasia' 'Achondrogenesis type 1B' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_93297 Hypochondrogenesis 'Hypochondrogenesis' SubClassOf 'Achondrogenesis' 'Hypochondrogenesis' SubClassOf 'Type 2 collagen-related bone disorder' 'Hypochondrogenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93296 Achondrogenesis type 2 'Achondrogenesis type 2' SubClassOf 'Achondrogenesis' 'Achondrogenesis type 2' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93293 Okihiro syndrome 'Okihiro syndrome' SubClassOf 'Syndromic anorectal malformation' 'Okihiro syndrome' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_254788 Maternally-inherited mitochondrial myopathy 'Maternally-inherited mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited mitochondrial myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001963 ovarian mucinous cystadenocarcinoma 'ovarian mucinous cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0007640 Sorsby fundus dystrophy 'Sorsby fundus dystrophy' SubClassOf 'inherited retinal dystrophy' 'Sorsby fundus dystrophy' SubClassOf 'inherited retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_0003914 atherosclerosis 'atherosclerosis' SubClassOf 'arteriosclerosis disorder' 'atherosclerosis' SubClassOf 'arteriosclerosis disorder' http://www.ebi.ac.uk/efo/EFO_1001968 soft tissue sarcoma 'soft tissue sarcoma' SubClassOf 'sarcoma' 'soft tissue sarcoma' SubClassOf 'malignant soft tissue neoplasm' 'soft tissue sarcoma' SubClassOf 'sarcoma' 'soft tissue sarcoma' SubClassOf 'malignant soft tissue neoplasm' http://www.ebi.ac.uk/efo/EFO_0003918 obstructive sleep apnea 'obstructive sleep apnea' SubClassOf 'sleep apnea' 'obstructive sleep apnea' SubClassOf 'sleep apnea' http://www.ebi.ac.uk/efo/EFO_1001965 pharyngeal squamous cell carcinoma 'pharyngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'pharyngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0007653 genochondromatosis 'genochondromatosis' SubClassOf 'genetic disorder' 'genochondromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://www.ebi.ac.uk/efo/EFO_1001974 uterine leiomyosarcoma 'uterine leiomyosarcoma' SubClassOf 'uterine sarcoma' 'uterine leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'uterine leiomyosarcoma' SubClassOf 'uterine sarcoma' 'uterine leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://www.ebi.ac.uk/efo/EFO_0003943 humerus fracture 'humerus fracture' SubClassOf 'bone fracture' 'humerus fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0003944 tibia fracture 'tibia fracture' SubClassOf 'bone fracture' 'tibia fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0003948 gastroesophageal reflux disease 'gastroesophageal reflux disease' SubClassOf 'esophageal disease' 'gastroesophageal reflux disease' SubClassOf 'esophageal disease' http://www.orpha.net/ORDO/Orphanet_254749 Tricarboxylic acid cycle disorder 'Tricarboxylic acid cycle disorder' SubClassOf 'Disorder of energy metabolism' 'Tricarboxylic acid cycle disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001980 Alpha-methylacyl-CoA racemase deficiency 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'Peroxisomal disease' 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://purl.obolibrary.org/obo/MONDO_0019648 achondrogenesis 'achondrogenesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019642 vitamin D-dependent rickets, type 2 'vitamin D-dependent rickets, type 2' SubClassOf 'vitamin D-dependent rickets' 'vitamin D-dependent rickets, type 2' SubClassOf 'vitamin D-dependent rickets' http://www.orpha.net/ORDO/Orphanet_254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' SubClassOf 'Disorder of energy metabolism' http://www.ebi.ac.uk/efo/EFO_1001996 Thalassemia 'Thalassemia' SubClassOf 'Hemoglobinopathy' 'Thalassemia' SubClassOf 'inherited hemoglobinopathy' 'Thalassemia' SubClassOf 'Rare constitutional anemia' 'Thalassemia' SubClassOf 'inherited hemoglobinopathy' http://www.ebi.ac.uk/efo/EFO_0003966 eye disease 'eye disease' SubClassOf 'disease of orbital region' 'eye disease' SubClassOf 'disease of orbital region' http://www.ebi.ac.uk/efo/EFO_1001991 pneumonitis 'pneumonitis' SubClassOf 'lung disease' 'pneumonitis' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0003964 hip fracture 'hip fracture' SubClassOf 'bone fracture' 'hip fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_1001999 systemic juvenile idiopathic arthritis 'systemic juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'systemic juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://purl.obolibrary.org/obo/MONDO_0007688 Myhre syndrome 'Myhre syndrome' SubClassOf 'syndromic intellectual disability' 'Myhre syndrome' SubClassOf 'acromelic dysplasia' 'Myhre syndrome' SubClassOf 'syndromic intellectual disability' 'Myhre syndrome' SubClassOf 'acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_93256 Fragile X-associated tremor/ataxia syndrome 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'Rare genetic tremor disorder' 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Fragile X-associated tremor/ataxia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007686 gray platelet syndrome 'gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.ebi.ac.uk/efo/EFO_0003950 ulna fracture 'ulna fracture' SubClassOf 'bone fracture' 'ulna fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0003958 sunburn 'sunburn' SubClassOf 'skin disease' 'sunburn' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0003956 seasonal allergic rhinitis 'seasonal allergic rhinitis' SubClassOf 'allergic rhinitis' 'seasonal allergic rhinitis' SubClassOf 'allergic rhinitis' http://www.ebi.ac.uk/efo/EFO_0003957 radius fracture 'radius fracture' SubClassOf 'bone fracture' 'radius fracture' SubClassOf 'bone fracture' http://purl.obolibrary.org/obo/MONDO_0019669 hypochondrogenesis 'hypochondrogenesis' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'sulfation-related bone disorder' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'sulfation-related bone disorder' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019665 monostotic fibrous dysplasia 'monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' 'monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' http://www.orpha.net/ORDO/Orphanet_93262 Crouzon syndrome - acanthosis nigricans 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Syndromic craniosynostosis' 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Rare genetic bone disease' 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Genetic cranial malformation' 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Rare genetic bone development disorder' http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type 'short rib-polydactyly syndrome, Majewski type' SubClassOf 'short rib-polydactyly syndrome' 'short rib-polydactyly syndrome, Majewski type' SubClassOf 'short rib-polydactyly syndrome' http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type 'Short rib-polydactyly syndrome, Majewski type' SubClassOf 'Short rib-polydactyly syndrome' 'Short rib-polydactyly syndrome, Majewski type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93268 Short rib-polydactyly syndrome, Beemer-Langer type 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf 'Short rib-polydactyly syndrome' 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93267 Cloverleaf skull - multiple congenital anomalies 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'Syndromic craniosynostosis' 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'Rare genetic bone disease' 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'Genetic cranial malformation' 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'Rare genetic bone development disorder' http://purl.obolibrary.org/obo/MONDO_0007698 hand-foot-genital syndrome 'hand-foot-genital syndrome' SubClassOf 'autosomal dominant disease' 'hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800094 'hand-foot-genital syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0019675 spondyloepimetaphyseal dysplasia with joint laxity 'spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_93277 Monostotic fibrous dysplasia 'Monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' 'Monostotic fibrous dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93276 Polyostotic fibrous dysplasia 'Polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' 'Polyostotic fibrous dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93274 Thanatophoric dysplasia type 2 'Thanatophoric dysplasia type 2' SubClassOf 'Thanatophoric dysplasia' 'Thanatophoric dysplasia type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Syndromic anorectal malformation' 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Short rib-polydactyly syndrome' 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Primary bone dysplasia' 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Genetic digestive tract malformation' http://purl.obolibrary.org/obo/MONDO_0019691 short rib dysplasia 'short rib dysplasia' SubClassOf 'primary bone dysplasia' 'short rib dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019690 filamin-related bone disorder 'filamin-related bone disorder' SubClassOf 'bone disease' 'filamin-related bone disorder' SubClassOf 'primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93279 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 and spondyloepimetaphyseal dysplasia' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'Type 2 collagen-related bone disorder' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019689 perlecan-related bone disorder 'perlecan-related bone disorder' SubClassOf 'bone disease' 'perlecan-related bone disorder' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019685 FGFR3-related chondrodysplasia 'FGFR3-related chondrodysplasia' SubClassOf 'bone disease' 'FGFR3-related chondrodysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019688 sulfation-related bone disorder 'sulfation-related bone disorder' SubClassOf 'bone disease' 'sulfation-related bone disorder' SubClassOf 'sulfur metabolism disease' 'sulfation-related bone disorder' SubClassOf 'primary bone dysplasia' 'sulfation-related bone disorder' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_93284 Spondyloepiphyseal dysplasia tarda 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia tarda' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019681 juvenile sialidosis type 2 'juvenile sialidosis type 2' SubClassOf 'sialidosis type 2' 'juvenile sialidosis type 2' SubClassOf 'sialidosis type 2' http://www.orpha.net/ORDO/Orphanet_93283 Spondyloepiphyseal dysplasia, Kimberley type 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'Aggrecan-related bone disorder' 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93282 Spondyloepimetaphyseal dysplasia, Pakistani type 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'Sulfation-related bone disorder' 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_860 Congenitally uncorrected transposition of the great arteries 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'Genetic cardiac anomaly' 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_0003882 osteoporosis 'osteoporosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://www.orpha.net/ORDO/Orphanet_7 3C syndrome '3C syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf '3-hydroxyacyl-CoA dehydrogenase deficiency' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome with hypoparathyroidism' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0005053 ischemic disease 'ischemic disease' SubClassOf 'vascular disease' 'ischemic disease' SubClassOf 'vascular disease' http://www.orpha.net/ORDO/Orphanet_6 Isolated 3-methylcrotonyl-CoA carboxylase deficiency 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'Classic organic aciduria' 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'Organic aciduria' http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia 'mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'primary bone dysplasia' 'mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019696 acromesomelic dysplasia 'acromesomelic dysplasia' SubClassOf 'primary bone dysplasia' 'acromesomelic dysplasia' SubClassOf 'genetic disorder' 'acromesomelic dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019698 bent bone dysplasia 'bent bone dysplasia' SubClassOf 'primary bone dysplasia' 'bent bone dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019693 multiple metaphyseal dysplasia 'multiple metaphyseal dysplasia' SubClassOf 'primary bone dysplasia' 'multiple metaphyseal dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019692 multiple epiphyseal dysplasia and pseudoachondroplasia 'multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'primary bone dysplasia' 'multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019695 acromelic dysplasia 'acromelic dysplasia' SubClassOf 'primary bone dysplasia' 'acromelic dysplasia' SubClassOf 'primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_229720 Syndromic agammaglobulinemia 'Syndromic agammaglobulinemia' SubClassOf 'Agammaglobulinemia' 'Syndromic agammaglobulinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect 'Familial progressive cardiac conduction defect' SubClassOf 'Genetic cardiac rhythm disease' 'Familial progressive cardiac conduction defect' SubClassOf 'Rare genetic cardiac disease' http://www.ebi.ac.uk/efo/EFO_0003873 parotid neoplasm 'parotid neoplasm' SubClassOf 'neoplasm of major salivary gland' 'parotid neoplasm' SubClassOf 'neoplasm of major salivary gland' http://www.ebi.ac.uk/efo/EFO_0003871 tongue neoplasm 'tongue neoplasm' SubClassOf 'head and neck neoplasia' 'tongue neoplasm' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_0003872 colitis 'colitis' SubClassOf 'colonic disorder' 'colitis' SubClassOf 'colonic disorder' http://www.ebi.ac.uk/efo/EFO_0003877 sleep apnea 'sleep apnea' SubClassOf 'respiratory system disease' 'sleep apnea' SubClassOf 'sleep-wake disorder' 'sleep apnea' SubClassOf 'respiratory system disease' 'sleep apnea' SubClassOf 'sleep-wake disorder' http://www.ebi.ac.uk/efo/EFO_0003878 urethritis 'urethritis' SubClassOf 'urethral disease' 'urethritis' SubClassOf 'urethral disease' http://www.orpha.net/ORDO/Orphanet_9 Tetrasomy X 'Tetrasomy X' SubClassOf 'Non-acquired premature ovarian failure' 'Tetrasomy X' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Tetrasomy X' SubClassOf 'Polysomy of X chromosome' 'Tetrasomy X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017045 neuroectodermal-endocrine syndrome 'neuroectodermal-endocrine syndrome' SubClassOf 'syndromic intellectual disability' 'neuroectodermal-endocrine syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017042 thanatophoric dysplasia 'thanatophoric dysplasia' SubClassOf 'osteochondrodysplasia' 'thanatophoric dysplasia' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_869 Triple A syndrome 'Triple A syndrome' SubClassOf 'Congenital alacrima' 'Triple A syndrome' SubClassOf 'Rare lacrimal system disease' http://www.orpha.net/ORDO/Orphanet_868 Triose phosphate-isomerase deficiency 'Triose phosphate-isomerase deficiency' SubClassOf 'Neurometabolic disease' 'Triose phosphate-isomerase deficiency' SubClassOf 'Disorder of glycolysis' 'Triose phosphate-isomerase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' 'Triose phosphate-isomerase deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_867 Familial multiple trichoepithelioma 'Familial multiple trichoepithelioma' SubClassOf 'Brooke-Spiegler syndrome' 'Familial multiple trichoepithelioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_888 Van der Woude syndrome 'Van der Woude syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Van der Woude syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Van der Woude syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017060 open iniencephaly 'open iniencephaly' SubClassOf 'iniencephaly' 'open iniencephaly' SubClassOf 'iniencephaly' http://www.orpha.net/ORDO/Orphanet_887 VACTERL/VATER association 'VACTERL/VATER association' SubClassOf 'Syndromic anorectal malformation' 'VACTERL/VATER association' SubClassOf 'Syndromic renal or urinary tract malformation' 'VACTERL/VATER association' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017061 closed iniencephaly 'closed iniencephaly' SubClassOf 'iniencephaly' 'closed iniencephaly' SubClassOf 'iniencephaly' http://www.orpha.net/ORDO/Orphanet_884 Tetrasomy 12p 'Tetrasomy 12p' SubClassOf 'Syndromic anorectal malformation' 'Tetrasomy 12p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 12' 'Tetrasomy 12p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_882 Tyrosinemia type 1 'Tyrosinemia type 1' SubClassOf 'Disorder of tyrosine metabolism' 'Tyrosinemia type 1' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Tyrosinemia type 1' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' 'Tyrosinemia type 1' SubClassOf 'Rare genetic renal disease' http://purl.obolibrary.org/obo/MONDO_0017052 intermediate maple syrup urine disease 'intermediate maple syrup urine disease' SubClassOf 'maple syrup urine disease' 'intermediate maple syrup urine disease' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0017053 intermittent maple syrup urine disease 'intermittent maple syrup urine disease' SubClassOf 'maple syrup urine disease' 'intermittent maple syrup urine disease' SubClassOf 'maple syrup urine disease' http://www.orpha.net/ORDO/Orphanet_892 Von Hippel-Lindau disease 'Von Hippel-Lindau disease' SubClassOf 'multiple polyglandular tumor' 'Von Hippel-Lindau disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy 'Familial exudative vitreoretinopathy' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial exudative vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' 'Familial exudative vitreoretinopathy' SubClassOf 'Vitreoretinopathy' 'Familial exudative vitreoretinopathy' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0003893 ovarian neoplasm 'ovarian neoplasm' SubClassOf 'ovarian disease' 'ovarian neoplasm' SubClassOf 'ovarian disease' http://purl.obolibrary.org/obo/MONDO_0044655 c12orf65-related combined oxidative phosphorylation defect 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'syndromic intellectual disability' 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0003897 stomach neoplasm 'stomach neoplasm' SubClassOf 'stomach disease' 'stomach neoplasm' SubClassOf 'stomach disease' http://www.ebi.ac.uk/efo/EFO_0003898 ankylosing spondylitis 'ankylosing spondylitis' SubClassOf 'spondylitis' 'ankylosing spondylitis' SubClassOf 'spondylitis' http://www.ebi.ac.uk/efo/EFO_1001901 neuroendocrine neoplasm 'neuroendocrine neoplasm' SubClassOf 'endocrine neoplasm' 'neuroendocrine neoplasm' SubClassOf 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0005090 schizophrenia 'schizophrenia' SubClassOf 'psychosis' 'schizophrenia' SubClassOf 'psychosis' http://purl.obolibrary.org/obo/MONDO_0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 'intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency' SubClassOf 'genetic disorder' 'intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800063 http://www.ebi.ac.uk/efo/EFO_1001908 phobic disorder 'phobic disorder' SubClassOf 'anxiety disorder' 'phobic disorder' SubClassOf 'anxiety disorder' http://purl.obolibrary.org/obo/MONDO_0017066 cervical spina bifida aperta 'cervical spina bifida aperta' SubClassOf 'spina bifida aperta' 'cervical spina bifida aperta' SubClassOf 'spina bifida aperta' http://www.ebi.ac.uk/efo/EFO_1001916 separation anxiety disorder 'separation anxiety disorder' SubClassOf 'anxiety disorder' 'separation anxiety disorder' SubClassOf 'anxiety disorder' http://purl.obolibrary.org/obo/MONDO_0017078 cephalocele 'cephalocele' SubClassOf 'congenital nervous system disorder' 'cephalocele' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017079 meningoencephalocele 'meningoencephalocele' SubClassOf 'cephalocele' 'meningoencephalocele' SubClassOf 'cephalocele' http://www.ebi.ac.uk/efo/EFO_1001918 specific phobia 'specific phobia' SubClassOf 'phobic disorder' 'specific phobia' SubClassOf 'phobic disorder' http://www.ebi.ac.uk/efo/EFO_1001917 social anxiety disorder 'social anxiety disorder' SubClassOf 'phobic disorder' 'social anxiety disorder' SubClassOf 'phobic disorder' http://purl.obolibrary.org/obo/MONDO_0017092 unilateral polymicrogyria 'unilateral polymicrogyria' SubClassOf 'polymicrogyria' 'unilateral polymicrogyria' SubClassOf 'polymicrogyria' http://www.orpha.net/ORDO/Orphanet_254746 Pyruvate metabolism disorder 'Pyruvate metabolism disorder' SubClassOf 'Disorder of energy metabolism' 'Pyruvate metabolism disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001926 pathological gambling 'pathological gambling' SubClassOf 'impulse control disorder' 'pathological gambling' SubClassOf 'impulse control disorder' http://www.ebi.ac.uk/efo/EFO_1001928 small intestine neuroendocrine tumor 'small intestine neuroendocrine tumor' SubClassOf 'small intestine neoplasm' 'small intestine neuroendocrine tumor' SubClassOf 'small intestine neoplasm' http://www.ebi.ac.uk/efo/EFO_1001934 adult acute myeloid leukemia 'adult acute myeloid leukemia' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0030073 Mitchell syndrome 'Mitchell syndrome' SubClassOf 'genetic disorder' 'Mitchell syndrome' SubClassOf 'disorder of defective peroxisome oxidative status' http://www.ebi.ac.uk/efo/EFO_1001939 Barrett adenocarcinoma 'Barrett adenocarcinoma' SubClassOf 'esophageal adenocarcinoma' 'Barrett adenocarcinoma' SubClassOf 'esophageal adenocarcinoma' 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 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001942 bronchogenic carcinoma 'bronchogenic carcinoma' SubClassOf 'bronchus cancer' 'bronchogenic carcinoma' SubClassOf 'bronchus cancer' http://www.orpha.net/ORDO/Orphanet_56304 Atelosteogenesis type II 'Atelosteogenesis type II' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atelosteogenesis type II' SubClassOf 'Sulfation-related bone disorder' 'Atelosteogenesis type II' SubClassOf 'perinatal disease' 'Atelosteogenesis type II' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Atelosteogenesis type II' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Atelosteogenesis type II' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Atelosteogenesis type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_56305 Atelosteogenesis type III 'Atelosteogenesis type III' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atelosteogenesis type III' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Atelosteogenesis type III' SubClassOf 'Filamin-related bone disorder' 'Atelosteogenesis type III' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Atelosteogenesis type III' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Atelosteogenesis type III' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171929 Trisomy 10p 'Trisomy 10p' SubClassOf 'Partial duplication of the short arm of chromosome 10' 'Trisomy 10p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_805 Tuberous sclerosis 'Tuberous sclerosis' SubClassOf 'Genetic renal tumor' 'Tuberous sclerosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_822 Hereditary spherocytosis 'Hereditary spherocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Hereditary spherocytosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_817 Peeling skin syndrome 'Peeling skin syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' 'Peeling skin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_816 Sjögren-Larsson syndrome 'Sjögren-Larsson syndrome' SubClassOf 'Neurometabolic disease' 'Sjögren-Larsson syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_812 sialidosis type I 'sialidosis type I' SubClassOf 'Neurometabolic disease' 'sialidosis type I' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Syndromic developmental defect of the eye' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Lens position anomaly' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_832 Succinyl-CoA:3-ketoacid CoA transferase deficiency 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'Disorder of ketone body metabolism' 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_823 Isolated spina bifida 'Isolated spina bifida' SubClassOf 'Neural tube closure defect' 'Isolated spina bifida' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_844 Atrial tachyarrhythmia with short PR interval 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'Genetic cardiac rhythm disease' 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'Rare genetic cardiac disease' http://www.orpha.net/ORDO/Orphanet_841 Sebocystomatosis 'Sebocystomatosis' SubClassOf 'Genetic sebaceous gland anomaly' 'Sebocystomatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_229717 Isolated agammaglobulinemia 'Isolated agammaglobulinemia' SubClassOf 'Agammaglobulinemia' 'Isolated agammaglobulinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_839 Congenital nephrotic syndrome, Finnish type 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'Congenital and infantile nephrotic syndrome' 'Congenital nephrotic syndrome, Finnish type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_834 Free sialic acid storage disease 'Free sialic acid storage disease' SubClassOf 'Disorder of lysosomal amino acid transport' 'Free sialic acid storage disease' SubClassOf 'Neurometabolic disease' 'Free sialic acid storage disease' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Free sialic acid storage disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_852 X-linked thrombocytopenia with normal platelets 'X-linked thrombocytopenia with normal platelets' SubClassOf 'Hereditary thrombocytopenia with normal platelets' 'X-linked thrombocytopenia with normal platelets' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_848 Beta-thalassemia 'Beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' 'Beta-thalassemia' SubClassOf 'Thalassemia' http://www.orpha.net/ORDO/Orphanet_847 Alpha-thalassemia - X-linked intellectual disability syndrome 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Thalassemia' http://www.orpha.net/ORDO/Orphanet_846 Alpha-thalassemia 'Alpha-thalassemia' SubClassOf 'Alpha-thalassemia and related diseases' 'Alpha-thalassemia' SubClassOf 'Thalassemia' http://www.orpha.net/ORDO/Orphanet_2907 Hereditary acrokeratotic poikiloderma, Weary type 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'hereditary poikiloderma' 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2903 Familial spontaneous pneumothorax 'Familial spontaneous pneumothorax' SubClassOf 'Rare genetic respiratory disease' 'Familial spontaneous pneumothorax' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2921 Preaxial polydactyly - colobomata - intellectual disability 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2919 Orofaciodigital syndrome type 5 'Orofaciodigital syndrome type 5' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 5' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome type 5' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofaciodigital syndrome type 5' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_2917 Polydactyly-myopia syndrome 'Polydactyly-myopia syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Polydactyly-myopia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2913 Polydactyly 'Polydactyly' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'Polydactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93101 Renal hypoplasia 'Renal hypoplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Renal hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93108 Renal dysplasia 'Renal dysplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Renal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_313772 Early-onset spastic ataxia-neuropathy syndrome 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Autosomal recessive spastic ataxia' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Mitochondrial myopathy' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Metabolic disease with intestinal involvement' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Rare hereditary ataxia' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Mitochondrial disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_2934 Polysyndactyly - cardiac malformation 'Polysyndactyly - cardiac malformation' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Polysyndactyly - cardiac malformation' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2929 Juvenile polyposis syndrome 'Juvenile polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Juvenile polyposis syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Juvenile polyposis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2926 Polyneuropathy - hand defect 'Polyneuropathy - hand defect' SubClassOf 'Hereditary motor and sensory neuropathy' 'Polyneuropathy - hand defect' SubClassOf 'Rare genetic neurological disorder' 'Polyneuropathy - hand defect' SubClassOf 'has_disease_location' some 'motor neuron' 'Polyneuropathy - hand defect' SubClassOf 'hereditary motor neuron disease' http://www.orpha.net/ORDO/Orphanet_2924 Isolated polycystic liver disease 'Isolated polycystic liver disease' SubClassOf 'Genetic parenchymatous liver disease' 'Isolated polycystic liver disease' SubClassOf 'Rare genetic hepatic disease' http://www.orpha.net/ORDO/Orphanet_240071 Classical progressive supranuclear palsy 'Classical progressive supranuclear palsy' SubClassOf 'Progressive supranuclear palsy' 'Classical progressive supranuclear palsy' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Classical progressive supranuclear palsy' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) 'Classical progressive supranuclear palsy' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Classical progressive supranuclear palsy' SubClassOf 'tauopathy' 'Classical progressive supranuclear palsy' SubClassOf 'Oculomotor palsy' 'Classical progressive supranuclear palsy' SubClassOf 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_93111 Renal cysts and diabetes syndrome 'Renal cysts and diabetes syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Renal cysts and diabetes syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal cysts and diabetes syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93110 Posterior urethral valve 'Posterior urethral valve' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Posterior urethral valve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Primary glomerular disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'has_disease_location' some 'motor neuron' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'hereditary motor neuron disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Genetic glomerular disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2940 Porencephaly 'Porencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Porencephaly' SubClassOf 'Encephaloclastic disorder' 'Porencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2935 Crossed polysyndactyly 'Crossed polysyndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Crossed polysyndactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95719 Thyroid hemiagenesis 'Thyroid hemiagenesis' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Thyroid hemiagenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95710 Non-acquired premature ovarian failure 'Non-acquired premature ovarian failure' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' http://www.orpha.net/ORDO/Orphanet_95711 Congenital hypothyroidism due to developmental anomaly 'Congenital hypothyroidism due to developmental anomaly' SubClassOf 'Primary congenital hypothyroidism' 'Congenital hypothyroidism due to developmental anomaly' SubClassOf 'Rare hypothyroidism' http://www.orpha.net/ORDO/Orphanet_95712 Thyroid ectopia 'Thyroid ectopia' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Thyroid ectopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95713 Athyreosis 'Athyreosis' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Athyreosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95714 Primary congenital hypothyroidism without thyroid developmental anomaly 'Primary congenital hypothyroidism without thyroid developmental anomaly' SubClassOf 'Primary congenital hypothyroidism' 'Primary congenital hypothyroidism without thyroid developmental anomaly' SubClassOf 'Rare hypothyroidism' http://www.orpha.net/ORDO/Orphanet_95716 Familial thyroid dyshormonogenesis 'Familial thyroid dyshormonogenesis' SubClassOf 'Primary congenital hypothyroidism without thyroid developmental anomaly' 'Familial thyroid dyshormonogenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95720 Thyroid hypoplasia 'Thyroid hypoplasia' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Thyroid hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276066 Bile acid CoA ligase deficiency and defective amidation 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276058 Genetic neurodegenerative disease with dementia 'Genetic neurodegenerative disease with dementia' SubClassOf 'Genetic dementia' 'Genetic neurodegenerative disease with dementia' SubClassOf 'has_disease_location' some 'brain' http://purl.obolibrary.org/obo/MONDO_0007500 ear malformation 'ear malformation' SubClassOf 'genetic disorder' 'ear malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007510 Clouston syndrome 'Clouston syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Clouston syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_93178 Partial prune belly syndrome 'Partial prune belly syndrome' SubClassOf 'Prune belly syndrome' 'Partial prune belly syndrome' SubClassOf 'Genetic urogenital tract malformation' 'Partial prune belly syndrome' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_93173 Bilateral renal dysplasia 'Bilateral renal dysplasia' SubClassOf 'Renal dysplasia' 'Bilateral renal dysplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_93172 Unilateral renal dysplasia 'Unilateral renal dysplasia' SubClassOf 'Renal dysplasia' 'Unilateral renal dysplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0007527 Ehlers-Danlos syndrome, periodontitis type 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007525 Ehlers-Danlos syndrome, arthrochalasis type 'Ehlers-Danlos syndrome, arthrochalasis type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, arthrochalasis type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007526 Ehlers-Danlos syndrome, spondylodysplastic type 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007523 Ehlers-Danlos syndrome, hypermobility type 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007522 Ehlers-Danlos syndrome, classic type 'Ehlers-Danlos syndrome, classic type' SubClassOf 'autosomal dominant disease' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'autosomal dominant disease' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007538 amelogenesis imperfecta, type 3A 'amelogenesis imperfecta, type 3A' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta, type 3A' SubClassOf 'amelogenesis imperfecta' http://www.ebi.ac.uk/efo/EFO_0003827 pulmonary embolism 'pulmonary embolism' SubClassOf 'arterial disorder' 'pulmonary embolism' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/CL_0000477 ovarian follicle cell 'ovarian follicle cell' SubClassOf 'somatic cell' http://purl.obolibrary.org/obo/MONDO_0019514 hepatic veno-occlusive disease 'hepatic veno-occlusive disease' SubClassOf 'hepatic vascular disorder' 'hepatic veno-occlusive disease' SubClassOf 'hepatic vascular disorder' http://purl.obolibrary.org/obo/MONDO_0007549 generalized dominant dystrophic epidermolysis bullosa 'generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' 'generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0007542 Camurati-Engelmann disease 'Camurati-Engelmann disease' SubClassOf 'genetic disorder' 'Camurati-Engelmann disease' SubClassOf 'primary bone dysplasia' 'Camurati-Engelmann disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://www.ebi.ac.uk/efo/EFO_0003811 refractory anemia with excess blasts 'refractory anemia with excess blasts' SubClassOf 'myelodysplastic syndrome' 'refractory anemia with excess blasts' SubClassOf 'myelodysplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0007540 multiple endocrine neoplasia type 1 'multiple endocrine neoplasia type 1' SubClassOf 'multiple endocrine neoplasia' 'multiple endocrine neoplasia type 1' SubClassOf 'multiple endocrine neoplasia' http://www.ebi.ac.uk/efo/EFO_0003812 refractory anemia with ringed sideroblasts 'refractory anemia with ringed sideroblasts' SubClassOf 'sideroblastic anemia' 'refractory anemia with ringed sideroblasts' SubClassOf 'myelodysplastic syndrome' 'refractory anemia with ringed sideroblasts' SubClassOf 'sideroblastic anemia' 'refractory anemia with ringed sideroblasts' SubClassOf 'myelodysplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0020505 ravine syndrome 'ravine syndrome' SubClassOf 'leukodystrophy' 'ravine syndrome' SubClassOf 'leukodystrophy' http://www.ebi.ac.uk/efo/EFO_0003819 dental caries 'dental caries' SubClassOf 'tooth hard tissue disease' 'dental caries' SubClassOf 'tooth hard tissue disease' http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness 'infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Bartter syndrome' 'infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Bartter syndrome' http://www.ebi.ac.uk/efo/EFO_0003817 laryngeal neoplasm 'laryngeal neoplasm' SubClassOf 'laryngeal disease' 'laryngeal neoplasm' SubClassOf 'laryngeal disease' http://www.ebi.ac.uk/efo/EFO_0003818 lung disease 'lung disease' SubClassOf 'lower respiratory tract disease' 'lung disease' SubClassOf 'lower respiratory tract disease' http://purl.obolibrary.org/obo/MONDO_0020508 primary syringomyelia 'primary syringomyelia' SubClassOf 'syringomyelia' 'primary syringomyelia' SubClassOf 'syringomyelia' http://www.ebi.ac.uk/efo/EFO_0003841 thyroid neoplasm 'thyroid neoplasm' SubClassOf 'thyroid disease' 'thyroid neoplasm' SubClassOf 'thyroid disease' http://purl.obolibrary.org/obo/MONDO_0007552 pretibial dystrophic epidermolysis bullosa 'pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' 'pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://www.ebi.ac.uk/efo/EFO_0003844 ureteral neoplasm 'ureteral neoplasm' SubClassOf 'urinary system neoplasm' 'ureteral neoplasm' SubClassOf 'urinary system neoplasm' http://www.ebi.ac.uk/efo/EFO_0003849 palatal neoplasm 'palatal neoplasm' SubClassOf 'mouth neoplasm' 'palatal neoplasm' SubClassOf 'mouth neoplasm' http://purl.obolibrary.org/obo/MONDO_0019537 hemoglobin D disease 'hemoglobin D disease' SubClassOf 'inherited hemoglobinopathy' 'hemoglobin D disease' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0007566 multiple self-healing squamous epithelioma 'multiple self-healing squamous epithelioma' SubClassOf 'hereditary neoplastic syndrome' 'multiple self-healing squamous epithelioma' SubClassOf 'hereditary neoplastic syndrome' http://www.ebi.ac.uk/efo/EFO_0003830 prostatitis 'prostatitis' SubClassOf 'prostate disease' 'prostatitis' SubClassOf 'prostate disease' http://purl.obolibrary.org/obo/MONDO_0007561 multiple epiphyseal dysplasia type 1 'multiple epiphyseal dysplasia type 1' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia type 1' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007562 multiple epiphyseal dysplasia, Beighton type 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'hereditary disorder of connective tissue' 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'multiple epiphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0003835 anal neoplasm 'anal neoplasm' SubClassOf 'anus disease' 'anal neoplasm' SubClassOf 'anus disease' http://purl.obolibrary.org/obo/MONDO_0020525 transient neonatal diabetes mellitus 'transient neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' 'transient neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0003839 retinopathy 'retinopathy' SubClassOf 'eye disease' 'retinopathy' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0007576 esophageal cancer 'esophageal cancer' SubClassOf 'neoplasm of esophagus' 'esophageal cancer' SubClassOf 'neoplasm of esophagus' http://www.ebi.ac.uk/efo/EFO_0003863 urogenital neoplasm 'urogenital neoplasm' SubClassOf 'disease of genitourinary system' 'urogenital neoplasm' SubClassOf 'neoplasm' 'urogenital neoplasm' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0007574 spinocerebellar ataxia type 34 'spinocerebellar ataxia type 34' SubClassOf 'erythrokeratoderma' 'spinocerebellar ataxia type 34' SubClassOf 'erythrokeratoderma' http://www.ebi.ac.uk/efo/EFO_0003866 paranasal sinus neoplasm 'paranasal sinus neoplasm' SubClassOf 'paranasal sinus disease' 'paranasal sinus neoplasm' SubClassOf 'paranasal sinus disease' http://purl.obolibrary.org/obo/MONDO_0020550 gestational choriocarcinoma 'gestational choriocarcinoma' SubClassOf 'gestational trophoblastic disease' 'gestational choriocarcinoma' SubClassOf 'choriocarcinoma' 'gestational choriocarcinoma' SubClassOf 'gestational trophoblastic neoplasm' 'gestational choriocarcinoma' SubClassOf 'choriocarcinoma' 'gestational choriocarcinoma' SubClassOf 'gestational trophoblastic neoplasm' http://purl.obolibrary.org/obo/MONDO_0007573 acute erythroleukemia, familial 'acute erythroleukemia, familial' SubClassOf 'erythroid neoplasm' 'acute erythroleukemia, familial' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute erythroleukemia, familial' SubClassOf 'inherited acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0003865 kidney neoplasm 'kidney neoplasm' SubClassOf 'urinary system neoplasm' 'kidney neoplasm' SubClassOf 'kidney disease' 'kidney neoplasm' SubClassOf 'urinary system neoplasm' 'kidney neoplasm' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0003868 mouth neoplasm 'mouth neoplasm' SubClassOf 'mouth disease' 'mouth neoplasm' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm 'breast neoplasm' SubClassOf 'neoplasm of thorax' 'breast neoplasm' SubClassOf 'breast disease' 'breast neoplasm' SubClassOf 'neoplasm of thorax' 'breast neoplasm' SubClassOf 'breast disease' http://purl.obolibrary.org/obo/MONDO_0007585 exostoses, multiple, type 1 'exostoses, multiple, type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://www.ebi.ac.uk/efo/EFO_0003855 intestinal polyp 'intestinal polyp' SubClassOf 'polyp' 'intestinal polyp' SubClassOf 'polyp' http://www.ebi.ac.uk/efo/EFO_0003854 postmenopausal osteoporosis 'postmenopausal osteoporosis' SubClassOf 'osteoporosis' 'postmenopausal osteoporosis' SubClassOf 'osteoporosis' http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm 'uterine neoplasm' SubClassOf 'uterine disorder' 'uterine neoplasm' SubClassOf 'uterine disorder' http://purl.obolibrary.org/obo/MONDO_0020547 chronic graft versus host disease 'chronic graft versus host disease' SubClassOf 'graft versus host disease' 'chronic graft versus host disease' SubClassOf 'graft versus host disease' http://purl.obolibrary.org/obo/MONDO_0019565 hereditary von Willebrand disease 'hereditary von Willebrand disease' SubClassOf 'von Willebrand disease (hereditary or acquired)' 'hereditary von Willebrand disease' SubClassOf 'von Willebrand disease (hereditary or acquired)' http://purl.obolibrary.org/obo/MONDO_0019567 Ehlers-Danlos syndrome, classic type, 1 'Ehlers-Danlos syndrome, classic type, 1' SubClassOf 'Ehlers-Danlos syndrome, classic type' 'Ehlers-Danlos syndrome, classic type, 1' SubClassOf 'Ehlers-Danlos syndrome, classic type' http://www.orpha.net/ORDO/Orphanet_93160 Hypocalcemic vitamin D-resistant rickets 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'Hypocalcemic rickets' 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'vitamin metabolic disorder' 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'participates_in' some ('vitamin metabolic process' and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_745 Hereditary thrombophilia due to congenital protein C deficiency 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'Rare hereditary thrombophilia' 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_743 Hereditary thrombophilia due to congenital protein S deficiency 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'Rare hereditary thrombophilia' 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_742 Prolidase deficiency 'Prolidase deficiency' SubClassOf 'genetic skin disease' 'Prolidase deficiency' SubClassOf 'Syndromic lymphedema' 'Prolidase deficiency' SubClassOf 'Disorder of peptide metabolism' 'Prolidase deficiency' SubClassOf 'Metabolic disease with skin involvement' 'Prolidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003763 cerebrovascular disorder 'cerebrovascular disorder' SubClassOf 'brain disease' 'cerebrovascular disorder' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0003769 endocrine neoplasm 'endocrine neoplasm' SubClassOf 'endocrine system disease' 'endocrine neoplasm' SubClassOf 'neoplasm' 'endocrine neoplasm' SubClassOf 'endocrine system disease' 'endocrine neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_217635 Familial restrictive cardiomyopathy 'Familial restrictive cardiomyopathy' SubClassOf 'Rare genetic cardiac disease' 'Familial restrictive cardiomyopathy' SubClassOf 'has_disease_location' some 'myocardium' 'Familial restrictive cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Familial restrictive cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019572 autosomal recessive cutis laxa type 1 'autosomal recessive cutis laxa type 1' SubClassOf 'inherited cutis laxa' 'autosomal recessive cutis laxa type 1' SubClassOf 'inherited cutis laxa' http://www.orpha.net/ORDO/Orphanet_738 Porphyria 'Porphyria' SubClassOf 'Genetic photodermatosis' 'Porphyria' SubClassOf 'Metabolic disease with skin involvement' 'Porphyria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Porphyria' SubClassOf 'Disorder of porphyrin and haem metabolism' 'Porphyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa 'autosomal dominant cutis laxa' SubClassOf 'inherited cutis laxa' 'autosomal dominant cutis laxa' SubClassOf 'autosomal dominant disease' 'autosomal dominant cutis laxa' SubClassOf 'inherited cutis laxa' 'autosomal dominant cutis laxa' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_737 Porokeratosis plantaris palmaris et disseminata 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'Genetic porokeratosis' 'Porokeratosis plantaris palmaris et disseminata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217638 Lysosomal disease with restrictive cardiomyopathy 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'Familial restrictive cardiomyopathy' 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'Rare genetic cardiac disease' 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'has_disease_location' some 'myocardium' 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'familial cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_735 Porokeratosis of Mibelli 'Porokeratosis of Mibelli' SubClassOf 'Genetic porokeratosis' 'Porokeratosis of Mibelli' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_756 Pseudohypoaldosteronism type 1 'Pseudohypoaldosteronism type 1' SubClassOf 'Genetic renal tubular disease' 'Pseudohypoaldosteronism type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_754 Androgen insensitivity syndrome 'Androgen insensitivity syndrome' SubClassOf '46,XY disorder of sex development of gynecological interest' 'Androgen insensitivity syndrome' SubClassOf 'Rare male infertility due to testicular endocrine disorder' 'Androgen insensitivity syndrome' SubClassOf 'Genetic 46,XY disorder of sex development of endocrine origin' 'Androgen insensitivity syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_750 Pseudoachondroplasia 'Pseudoachondroplasia' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Pseudoachondroplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003750 MBD-seq 'MBD-seq' SubClassOf 'assay by sequencer' 'MBD-seq' SubClassOf 'assay by high throughput sequencer' http://www.orpha.net/ORDO/Orphanet_746 Mitochondrial trifunctional protein deficiency 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'Mitochondrial trifunctional protein deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_766 Hemolytic anemia due to red cell pyruvate kinase deficiency 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Pyruvate metabolism disorder' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Disorder of energy metabolism' http://www.orpha.net/ORDO/Orphanet_765 Pyruvate dehydrogenase deficiency 'Pyruvate dehydrogenase deficiency' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Mitochondrial disease' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Pyruvate metabolism disorder' 'Pyruvate dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171886 Cylindrical spirals myopathy 'Cylindrical spirals myopathy' SubClassOf 'Congenital myopathy' 'Cylindrical spirals myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171889 Myopathy with hexagonally cross-linked tubular arrays 'Myopathy with hexagonally cross-linked tubular arrays' SubClassOf 'Congenital myopathy' 'Myopathy with hexagonally cross-linked tubular arrays' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_763 Pycnodysostosis 'Pycnodysostosis' SubClassOf 'Lysosomal disease' 'Pycnodysostosis' SubClassOf 'Osteopetrosis' 'Pycnodysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003780 Behcet's syndrome 'Behcet's syndrome' SubClassOf 'syndromic disease' 'Behcet's syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_760 Purine nucleoside phosphorylase deficiency 'Purine nucleoside phosphorylase deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Purine nucleoside phosphorylase deficiency' SubClassOf 'Disorder of purine metabolism' 'Purine nucleoside phosphorylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'Arrhythmogenic right ventricular dysplasia' 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum 'Pseudoxanthoma elasticum' SubClassOf 'Familial restrictive cardiomyopathy' 'Pseudoxanthoma elasticum' SubClassOf 'Genetic hypertension' 'Pseudoxanthoma elasticum' SubClassOf 'familial cardiomyopathy' 'Pseudoxanthoma elasticum' SubClassOf 'has_disease_location' some 'myocardium' 'Pseudoxanthoma elasticum' SubClassOf 'Rare genetic cardiac disease' 'Pseudoxanthoma elasticum' SubClassOf 'Rare genetic renal disease' http://www.orpha.net/ORDO/Orphanet_757 Pseudohypoaldosteronism type 2 'Pseudohypoaldosteronism type 2' SubClassOf 'Genetic hypertension' 'Pseudohypoaldosteronism type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003770 diabetic retinopathy 'diabetic retinopathy' SubClassOf 'metabolic disease' 'diabetic retinopathy' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Genetic skin vascular disorder' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Malformation syndrome with hamartosis' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Genetic neurovascular malformation' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Conjunctival telangiectasia' 'Hereditary hemorrhagic telangiectasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'Neurometabolic disease' 'Refsum disease' SubClassOf 'Leukodystrophy' 'Refsum disease' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Refsum disease' SubClassOf 'Peroxisomal disease' 'Refsum disease' SubClassOf 'Early-onset ataxia with dementia' 'Refsum disease' SubClassOf 'inborn errors of metabolism' 'Refsum disease' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Refsum disease' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Refsum disease' SubClassOf 'Rare hereditary ataxia' http://www.ebi.ac.uk/efo/EFO_0003777 heart disease 'heart disease' SubClassOf 'cardiovascular disease' 'heart disease' SubClassOf 'cardiovascular disease' http://www.orpha.net/ORDO/Orphanet_768 Familial long QT syndrome 'Familial long QT syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Familial long QT syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171863 Autosomal dominant spastic paraplegia type 42 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_786 Glucocorticoid resistance 'Glucocorticoid resistance' SubClassOf 'Adrenogenital syndrome' 'Glucocorticoid resistance' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Glucocorticoid resistance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171866 Spondyloepimetaphyseal dysplasia, aggrecan type 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Aggrecan-related bone disorder' 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0032591 hyperparathyroidism, transient neonatal 'hyperparathyroidism, transient neonatal' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800096 http://www.orpha.net/ORDO/Orphanet_171871 Renal pseudohypoaldosteronism type 1 'Renal pseudohypoaldosteronism type 1' SubClassOf 'Pseudohypoaldosteronism type 1' 'Renal pseudohypoaldosteronism type 1' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_799 Schizencephaly 'Schizencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Schizencephaly' SubClassOf 'Encephaloclastic disorder' 'Schizencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171876 Generalized pseudohypoaldosteronism type 1 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'Pseudohypoaldosteronism type 1' 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_797 Sarcoidosis 'Sarcoidosis' SubClassOf 'has_disease_location' some 'lung' 'Sarcoidosis' SubClassOf 'lung disease' 'Sarcoidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa 'Retinitis pigmentosa' SubClassOf 'Retinal dystrophy' 'Retinitis pigmentosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_790 Retinoblastoma 'Retinoblastoma' SubClassOf 'retinopathy' 'Retinoblastoma' SubClassOf 'has_disease_location' some 'eye' 'Retinoblastoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171881 Cap myopathy 'Cap myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Cap myopathy' SubClassOf 'Congenital myopathy' 'Cap myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156224 Paralytic facial malformation 'Paralytic facial malformation' SubClassOf 'Genetic head and neck malformation' 'Paralytic facial malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Syndromic retinitis pigmentosa' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_156252 Tracheal anomaly 'Tracheal anomaly' SubClassOf 'Rare otorhinolaryngological malformation' 'Tracheal anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156249 Larynx anomaly 'Larynx anomaly' SubClassOf 'Rare otorhinolaryngological malformation' 'Larynx anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171860 Intellectual disability - cataracts - kyphosis 'Intellectual disability - cataracts - kyphosis' SubClassOf 'Syndromic cataract' 'Intellectual disability - cataracts - kyphosis' SubClassOf 'Rare cataract' http://www.orpha.net/ORDO/Orphanet_2990 Autosomal recessive multiple pterygium syndrome 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'inherited epidermolysis bullosa' 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Autosomal recessive multiple pterygium syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001185 HeLa 'HeLa' SubClassOf 'cervical cancer cell line' http://www.orpha.net/ORDO/Orphanet_2999 Ptosis - strabismus - ectopic pupils 'Ptosis - strabismus - ectopic pupils' SubClassOf 'Ptosis' 'Ptosis - strabismus - ectopic pupils' SubClassOf 'Kinetic eyelid anomaly' http://www.orpha.net/ORDO/Orphanet_2997 Ptosis - vocal cord paralysis 'Ptosis - vocal cord paralysis' SubClassOf 'Ptosis' 'Ptosis - vocal cord paralysis' SubClassOf 'Kinetic eyelid anomaly' http://www.orpha.net/ORDO/Orphanet_2995 Baraitser-Winter syndrome 'Baraitser-Winter syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Baraitser-Winter syndrome' SubClassOf 'Ptosis' 'Baraitser-Winter syndrome' SubClassOf 'Kinetic eyelid anomaly' http://www.orpha.net/ORDO/Orphanet_2994 Short stature - craniofacial anomalies - genital hypoplasia 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_171839 Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'Genetic cranial malformation' 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'Rare genetic bone disease' 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'Rare genetic bone development disorder' http://www.orpha.net/ORDO/Orphanet_313846 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'Genetic skin vascular disorder' 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'Leukodystrophy' 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_156215 Oromandibular-limb anomalies syndrome 'Oromandibular-limb anomalies syndrome' SubClassOf 'Hypoglossia/aglossia' 'Oromandibular-limb anomalies syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156212 Hypoglossia/aglossia 'Hypoglossia/aglossia' SubClassOf 'Genetic head and neck malformation' 'Hypoglossia/aglossia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156207 Macroglossia 'Macroglossia' SubClassOf 'Genetic head and neck malformation' 'Macroglossia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156202 Otomandibular dysplasia associated with monogenic syndromes 'Otomandibular dysplasia associated with monogenic syndromes' SubClassOf 'Otomandibular dysplasia' 'Otomandibular dysplasia associated with monogenic syndromes' SubClassOf 'Rare otorhinolaryngological malformation' http://www.orpha.net/ORDO/Orphanet_701 Alopecia universalis 'Alopecia universalis' SubClassOf 'Alopecia' 'Alopecia universalis' SubClassOf 'genetic skin disease' 'Alopecia universalis' SubClassOf 'Rare genetic skin disease' http://www.orpha.net/ORDO/Orphanet_700 Alopecia totalis 'Alopecia totalis' SubClassOf 'Alopecia' 'Alopecia totalis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2952 Adducted thumbs - arthrogryposis, Christian type 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'Arthrogryposis multiplex congenita' 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_2946 Brachydactyly - long thumb 'Brachydactyly - long thumb' SubClassOf 'Heart-hand syndrome' 'Brachydactyly - long thumb' SubClassOf 'Genetic cardiac rhythm disease' 'Brachydactyly - long thumb' SubClassOf 'Rare genetic cardiac disease' http://www.orpha.net/ORDO/Orphanet_712 Hemolytic anemia due to glucophosphate isomerase deficiency 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'Disorder of glycolysis' 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_711 Glycogen storage disease due to phosphoglucomutase deficiency 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_2964 Autosomal dominant prognathism 'Autosomal dominant prognathism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Autosomal dominant prognathism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2962 De Barsy syndrome 'De Barsy syndrome' SubClassOf 'premature aging syndrome' 'De Barsy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_313800 Optic nerve edema-splenomegaly syndrome 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'Optic neuropathy' 'Optic nerve edema-splenomegaly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2970 Prune belly syndrome 'Prune belly syndrome' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Prune belly syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Prune belly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_722 Hypoplasminogenemia 'Hypoplasminogenemia' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hypoplasminogenemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_721 Gray platelet syndrome 'Gray platelet syndrome' SubClassOf 'Alpha granule disease' 'Gray platelet syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_720 Pili bifurcati 'Pili bifurcati' SubClassOf 'Isolated hair shaft abnormality' 'Pili bifurcati' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2978 Chronic intestinal pseudoobstruction 'Chronic intestinal pseudoobstruction' SubClassOf 'Congenital intestinal motility disorder' 'Chronic intestinal pseudoobstruction' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2976 Pseudoleprechaunism syndrome, Patterson type 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf 'Rare genetic adrenal disease' 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2973 46,XX disorder of sex development - anorectal anomalies '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Syndromic anorectal malformation' '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_2971 Peroxisomal acyl-CoA oxidase deficiency 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217610 Neuromuscular disease with dilated cardiomyopathy 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'Rare genetic cardiac disease' 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'has_disease_location' some 'myocardium' http://www.orpha.net/ORDO/Orphanet_217613 Mitochondrial disease with dilated cardiomyopathy 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'Rare genetic cardiac disease' 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'has_disease_location' some 'myocardium' 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_2968 Leukocyte adhesion deficiency 'Leukocyte adhesion deficiency' SubClassOf 'Functional neutrophil defect' 'Leukocyte adhesion deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217619 Syndrome associated with dilated cardiomyopathy 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'has_disease_location' some 'myocardium' 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'Rare genetic cardiac disease' 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_716 Phenylketonuria 'Phenylketonuria' SubClassOf 'Disorder of phenylalanine metabolism' 'Phenylketonuria' SubClassOf 'Neurometabolic disease' 'Phenylketonuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'Rare genetic cardiac disease' 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'has_disease_location' some 'myocardium' http://www.orpha.net/ORDO/Orphanet_714 Hemolytic anemia due to diphosphoglycerate mutase deficiency 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Other metabolic disease' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2980 Acro-oto-ocular syndrome 'Acro-oto-ocular syndrome' SubClassOf 'Ptosis' 'Acro-oto-ocular syndrome' SubClassOf 'Kinetic eyelid anomaly' http://www.orpha.net/ORDO/Orphanet_731 Autosomal recessive polycystic kidney disease 'Autosomal recessive polycystic kidney disease' SubClassOf 'has_disease_location' some 'kidney' 'Autosomal recessive polycystic kidney disease' SubClassOf 'Familial cystic renal disease' 'Autosomal recessive polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' 'Autosomal recessive polycystic kidney disease' SubClassOf 'Rare genetic disorder with obstructive azoospermia' 'Autosomal recessive polycystic kidney disease' SubClassOf 'has_disease_location' some 'cilium' 'Autosomal recessive polycystic kidney disease' SubClassOf 'ciliopathy' 'Autosomal recessive polycystic kidney disease' SubClassOf 'familial cystic renal disease' 'Autosomal recessive polycystic kidney disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2989 Pterygium of the conjunctiva, familial form 'Pterygium of the conjunctiva, familial form' SubClassOf 'Conjunctival tumor' 'Pterygium of the conjunctiva, familial form' SubClassOf 'Rare conjunctival disease' http://www.orpha.net/ORDO/Orphanet_2988 Pterygium colli - intellectual disability - digital anomalies 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2987 Antecubital pterygium syndrome 'Antecubital pterygium syndrome' SubClassOf 'inherited epidermolysis bullosa' 'Antecubital pterygium syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2985 Pseudoprogeria syndrome 'Pseudoprogeria syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pseudoprogeria syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Pseudoprogeria syndrome' SubClassOf 'progeroid syndrome' 'Pseudoprogeria syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217607 Familial dilated cardiomyopathy 'Familial dilated cardiomyopathy' SubClassOf 'Rare genetic cardiac disease' 'Familial dilated cardiomyopathy' SubClassOf 'has_disease_location' some 'myocardium' 'Familial dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Familial dilated cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_726 Alpers syndrome 'Alpers syndrome' SubClassOf 'Neurometabolic disease' 'Alpers syndrome' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Alpers syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Alpers syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Alpers syndrome' SubClassOf 'Mitochondrial myopathy' 'Alpers syndrome' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_725 Continuous spikes and waves during sleep 'Continuous spikes and waves during sleep' SubClassOf 'Childhood-onset epilepsy syndrome' 'Continuous spikes and waves during sleep' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93449 Primary osteolysis 'Primary osteolysis' SubClassOf 'Primary bone dysplasia' 'Primary osteolysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93448 Lysosomal storage disease with skeletal involvement 'Lysosomal storage disease with skeletal involvement' SubClassOf 'Rare genetic bone disease' 'Lysosomal storage disease with skeletal involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93444 Primary bone dysplasia with increased bone density 'Primary bone dysplasia with increased bone density' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with increased bone density' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93443 Neonatal osteosclerotic dysplasia 'Neonatal osteosclerotic dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Neonatal osteosclerotic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001797 Hemoglobin SC Disease 'Hemoglobin SC Disease' SubClassOf 'Sickle cell disease and related diseases' 'Hemoglobin SC Disease' SubClassOf 'Rare constitutional anemia' http://www.orpha.net/ORDO/Orphanet_93453 Dysostosis with predominant craniofacial involvement 'Dysostosis with predominant craniofacial involvement' SubClassOf 'Dysostosis of genetic origin' 'Dysostosis with predominant craniofacial involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93450 Primary bone dysplasia with disorganized development of skeletal components 'Primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with disorganized development of skeletal components' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93459 Syndrome with synostosis or other joint formation defect 'Syndrome with synostosis or other joint formation defect' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Syndrome with synostosis or other joint formation defect' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Syndrome with synostosis or other joint formation defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'Non-syndromic limb malformation' 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93457 Non-syndromic limb reduction defect 'Non-syndromic limb reduction defect' SubClassOf 'Non-syndromic limb malformation' 'Non-syndromic limb reduction defect' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Non-syndromic limb reduction defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93455 Patellar dysostosis 'Patellar dysostosis' SubClassOf 'Dysostosis of genetic origin' 'Patellar dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93454 Dysostosis with predominant vertebral and costal involvement 'Dysostosis with predominant vertebral and costal involvement' SubClassOf 'Dysostosis of genetic origin' 'Dysostosis with predominant vertebral and costal involvement' SubClassOf 'Rare genetic bone development disorder' 'Dysostosis with predominant vertebral and costal involvement' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_93460 Overgrowth syndrome 'Overgrowth syndrome' SubClassOf 'Genetic overgrowth/obesity syndrome' 'Overgrowth syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93465 Lethal chondrodysplasia 'Lethal chondrodysplasia' SubClassOf 'Primary bone dysplasia' 'Lethal chondrodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93406 Syndactyly type 5 'Syndactyly type 5' SubClassOf 'Syndactyly' 'Syndactyly type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93405 Syndactyly type 4 'Syndactyly type 4' SubClassOf 'Syndactyly' 'Syndactyly type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93404 Syndactyly type 3 'Syndactyly type 3' SubClassOf 'Syndactyly' 'Syndactyly type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93403 Syndactyly type 2 'Syndactyly type 2' SubClassOf 'Syndactyly' 'Syndactyly type 2' SubClassOf 'Genetic congenital limb malformation' 'Syndactyly type 2' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_93402 Syndactyly type 1 'Syndactyly type 1' SubClassOf 'Syndactyly' 'Syndactyly type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93426 Short rib dysplasia 'Short rib dysplasia' SubClassOf 'Primary bone dysplasia' 'Short rib dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93425 Filamin-related bone disorder 'Filamin-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Filamin-related bone disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93424 Perlecan-related bone disorder 'Perlecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Perlecan-related bone disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93423 Sulfation-related bone disorder 'Sulfation-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Sulfation-related bone disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93422 Type 11 collagen-related bone disorder 'Type 11 collagen-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Type 11 collagen-related bone disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93429 Multiple epiphyseal dysplasia and pseudoachondroplasia 'Multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'Primary bone dysplasia' 'Multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93430 Multiple metaphyseal dysplasia 'Multiple metaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' 'Multiple metaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93439 Bent bone dysplasia 'Bent bone dysplasia' SubClassOf 'Primary bone dysplasia' 'Bent bone dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93438 Mesomelic and rhizo-mesomelic dysplasia 'Mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'Primary bone dysplasia' 'Mesomelic and rhizo-mesomelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93437 Acromesomelic dysplasia 'Acromesomelic dysplasia' SubClassOf 'Primary bone dysplasia' 'Acromesomelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93436 Acromelic dysplasia 'Acromelic dysplasia' SubClassOf 'Primary bone dysplasia' 'Acromelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93434 Spondylodysplastic dysplasia 'Spondylodysplastic dysplasia' SubClassOf 'Primary bone dysplasia' 'Spondylodysplastic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93442 Chondrodysplasia punctata 'Chondrodysplasia punctata' SubClassOf 'Primary bone dysplasia' 'Chondrodysplasia punctata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93441 Primary bone dysplasia with multiple joint dislocations 'Primary bone dysplasia with multiple joint dislocations' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with multiple joint dislocations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93440 Slender bone dysplasia 'Slender bone dysplasia' SubClassOf 'Primary bone dysplasia' 'Slender bone dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007405 Crouzon syndrome 'Crouzon syndrome' SubClassOf 'syndromic craniosynostosis' 'Crouzon syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0007403 inherited Creutzfeldt-Jakob disease 'inherited Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'inherited Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' http://purl.obolibrary.org/obo/MONDO_0007414 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf 'genetic vascular anomaly' 'Gorham-Stout disease' SubClassOf 'hereditary disorder of connective tissue' 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://purl.obolibrary.org/obo/MONDO_0007412 Beare-Stevenson cutis gyrata syndrome 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'syndromic craniosynostosis' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'autosomal dominant disease' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'syndromic craniosynostosis' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007410 isolated cryptophthalmia 'isolated cryptophthalmia' SubClassOf 'cryptophthalmia' 'isolated cryptophthalmia' SubClassOf 'cryptophthalmia' http://purl.obolibrary.org/obo/MONDO_0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'bone development disease' 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800063 http://purl.obolibrary.org/obo/MONDO_0019409 idiopathic juvenile osteoporosis 'idiopathic juvenile osteoporosis' SubClassOf 'osteoporosis' 'idiopathic juvenile osteoporosis' SubClassOf 'has modifier' some 'rare' 'idiopathic juvenile osteoporosis' SubClassOf 'osteoporosis' 'idiopathic juvenile osteoporosis' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia 'beta thalassemia' SubClassOf 'Thalassemia' 'beta thalassemia' SubClassOf 'Thalassemia' http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome 'sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'steroid-resistant nephrotic syndrome' 'sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0007437 dentin dysplasia type II 'dentin dysplasia type II' SubClassOf 'genetic disorder' 'dentin dysplasia type II' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007436 dentin dysplasia type I 'dentin dysplasia type I' SubClassOf 'dentin dysplasia' 'dentin dysplasia type I' SubClassOf 'genetic disorder' 'dentin dysplasia type I' SubClassOf 'dentin dysplasia' 'dentin dysplasia type I' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001754 Abruptio Placentae 'Abruptio Placentae' SubClassOf 'placenta disease' 'Abruptio Placentae' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_1001759 alcohol amnestic disorder 'alcohol amnestic disorder' SubClassOf 'amnestic disorder' 'alcohol amnestic disorder' SubClassOf 'amnestic disorder' http://purl.obolibrary.org/obo/MONDO_0007449 dermo-odonto dysplasia 'dermo-odonto dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'dermo-odonto dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007445 dermatopathia pigmentosa reticularis 'dermatopathia pigmentosa reticularis' SubClassOf 'hyperpigmentation of the skin' 'dermatopathia pigmentosa reticularis' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0007442 dentinogenesis imperfecta type 3 'dentinogenesis imperfecta type 3' SubClassOf 'genetic disorder' 'dentinogenesis imperfecta type 3' SubClassOf 'dentinogenesis imperfecta' 'dentinogenesis imperfecta type 3' SubClassOf 'genetic disorder' 'dentinogenesis imperfecta type 3' SubClassOf 'dentinogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0007450 neurohypophyseal diabetes insipidus 'neurohypophyseal diabetes insipidus' SubClassOf 'pituitary gland disease' 'neurohypophyseal diabetes insipidus' SubClassOf 'diabetes insipidus' 'neurohypophyseal diabetes insipidus' SubClassOf 'pituitary gland disease' 'neurohypophyseal diabetes insipidus' SubClassOf 'diabetes insipidus' http://www.ebi.ac.uk/efo/EFO_1001779 chronic myelomonocytic leukemia 'chronic myelomonocytic leukemia' SubClassOf 'chronic leukemia' 'chronic myelomonocytic leukemia' SubClassOf 'chronic leukemia' http://purl.obolibrary.org/obo/MONDO_0019439 AA amyloidosis 'AA amyloidosis' SubClassOf 'amyloidosis' 'AA amyloidosis' SubClassOf 'amyloidosis' http://purl.obolibrary.org/obo/MONDO_0007470 calvarial doughnut lesions-bone fragility syndrome 'calvarial doughnut lesions-bone fragility syndrome' SubClassOf 'primary bone dysplasia' 'calvarial doughnut lesions-bone fragility syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://www.ebi.ac.uk/efo/EFO_1001789 familial apolipoprotein B hypobetalipoproteinemia 'familial apolipoprotein B hypobetalipoproteinemia' SubClassOf 'Hypobetalipoproteinemia' 'familial apolipoprotein B hypobetalipoproteinemia' SubClassOf 'Rare hypolipidemia' http://purl.obolibrary.org/obo/MONDO_0019441 ATTRV122I amyloidosis 'ATTRV122I amyloidosis' SubClassOf 'familial restrictive cardiomyopathy' 'ATTRV122I amyloidosis' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0019460 acute leukemia of ambiguous lineage 'acute leukemia of ambiguous lineage' SubClassOf 'inherited acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_254930 Combined oxidative phosphorylation defect type 7 'Combined oxidative phosphorylation defect type 7' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007477 3-M syndrome '3-M syndrome' SubClassOf 'autosomal recessive disease' '3-M syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0007478 autosomal dominant Kenny-Caffey syndrome 'autosomal dominant Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800063 http://purl.obolibrary.org/obo/MONDO_0007481 Leri-Weill dyschondrosteosis 'Leri-Weill dyschondrosteosis' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'Leri-Weill dyschondrosteosis' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_254925 Combined oxidative phosphorylation defect type 4 'Combined oxidative phosphorylation defect type 4' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome 'therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'acute myeloid leukemia' 'therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'inherited acute myeloid leukemia' 'therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0019450 lissencephaly with cerebellar hypoplasia 'lissencephaly with cerebellar hypoplasia' SubClassOf 'lissencephaly spectrum disorders' 'lissencephaly with cerebellar hypoplasia' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0019453 refractory cytopenia with multilineage dysplasia 'refractory cytopenia with multilineage dysplasia' SubClassOf 'myelodysplastic syndrome' 'refractory cytopenia with multilineage dysplasia' SubClassOf 'myelodysplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0007489 dysplasia epiphysealis hemimelica 'dysplasia epiphysealis hemimelica' SubClassOf 'primary bone dysplasia' 'dysplasia epiphysealis hemimelica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://purl.obolibrary.org/obo/MONDO_0007483 dyschromatosis symmetrica hereditaria 'dyschromatosis symmetrica hereditaria' SubClassOf 'hyperpigmentation of the skin' 'dyschromatosis symmetrica hereditaria' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0019469 T-cell large granular lymphocyte leukemia 'T-cell large granular lymphocyte leukemia' SubClassOf 'chronic leukemia' 'T-cell large granular lymphocyte leukemia' SubClassOf 'chronic leukemia' http://purl.obolibrary.org/obo/MONDO_0007495 dystonia 5 'dystonia 5' SubClassOf 'dopa-responsive dystonia' 'dystonia 5' SubClassOf 'dopa-responsive dystonia' http://purl.obolibrary.org/obo/MONDO_0019473 enteropathy-associated T-cell lymphoma 'enteropathy-associated T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'enteropathy-associated T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0019474 hepatosplenic T-cell lymphoma 'hepatosplenic T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'hepatosplenic T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://www.orpha.net/ORDO/Orphanet_254905 Isolated cytochrome C oxidase deficiency 'Isolated cytochrome C oxidase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated cytochrome C oxidase deficiency' SubClassOf 'Disorder of energy metabolism' 'Isolated cytochrome C oxidase deficiency' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_254920 Combined oxidative phosphorylation defect type 2 'Combined oxidative phosphorylation defect type 2' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020466 monosomy X 'monosomy X' SubClassOf 'Turner syndrome' 'monosomy X' SubClassOf 'Turner syndrome' http://www.orpha.net/ORDO/Orphanet_254913 Isolated ATP synthase deficiency 'Isolated ATP synthase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated ATP synthase deficiency' SubClassOf 'Disorder of energy metabolism' 'Isolated ATP synthase deficiency' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_168572 Native American myopathy 'Native American myopathy' SubClassOf 'Orofacial clefting syndrome' 'Native American myopathy' SubClassOf 'Congenital myopathy' 'Native American myopathy' SubClassOf 'Genetic skeletal muscle disease' 'Native American myopathy' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0020495 peho-like syndrome 'peho-like syndrome' SubClassOf 'genetic nervous system disorder' http://www.orpha.net/ORDO/Orphanet_168577 Hereditary cryohydrocytosis with reduced stomatin 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'Hereditary stomatocytosis' 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019497 nonsyndromic genetic hearing loss 'nonsyndromic genetic hearing loss' SubClassOf 'hearing loss' 'nonsyndromic genetic hearing loss' SubClassOf 'hearing loss' http://purl.obolibrary.org/obo/MONDO_0020481 myotonia fluctuans 'myotonia fluctuans' SubClassOf 'potassium-aggravated myotonia' 'myotonia fluctuans' SubClassOf 'potassium-aggravated myotonia' http://www.orpha.net/ORDO/Orphanet_168598 Brain demyelination due to methionine adenosyltransferase deficiency 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_168583 Hereditary North American Indian childhood cirrhosis 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'Genetic parenchymatous liver disease' 'Hereditary North American Indian childhood cirrhosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168588 Hyperandrogenism due to cortisone reductase deficiency 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Adrenogenital syndrome' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Rare genetic adrenal disease' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'female reproductive system disease' http://www.orpha.net/ORDO/Orphanet_168552 Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_168555 Spondylometaphyseal dysplasia, A4 type 'Spondylometaphyseal dysplasia, A4 type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, A4 type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168549 Axial spondylometaphyseal dysplasia 'Axial spondylometaphyseal dysplasia' SubClassOf 'Spondylometaphyseal dysplasia' 'Axial spondylometaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168544 Spondylometaphyseal dysplasia, Golden type 'Spondylometaphyseal dysplasia, Golden type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Golden type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93329 Autosomal recessive omodysplasia 'Autosomal recessive omodysplasia' SubClassOf 'Omodysplasia' 'Autosomal recessive omodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93328 Autosomal dominant omodysplasia 'Autosomal dominant omodysplasia' SubClassOf 'Omodysplasia' 'Autosomal dominant omodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93325 Autosomal dominant Kenny-Caffey syndrome 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93324 Autosomal recessive Kenny-Caffey syndrome 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_68367 Inborn errors of metabolism 'Inborn errors of metabolism' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Inborn errors of metabolism' SubClassOf 'inborn errors of metabolism' 'Inborn errors of metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93323 Fibular hemimelia 'Fibular hemimelia' SubClassOf 'Hemimelia' 'Fibular hemimelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_68366 Lysosomal disease 'Lysosomal disease' SubClassOf 'Inborn errors of metabolism' 'Lysosomal disease' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Lysosomal disease' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_93322 Tibial hemimelia 'Tibial hemimelia' SubClassOf 'Hemimelia' 'Tibial hemimelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_68364 Hemoglobinopathy 'Hemoglobinopathy' SubClassOf 'Rare constitutional anemia' 'Hemoglobinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_325546 Sex chromosome disorder of sex development 'Sex chromosome disorder of sex development' SubClassOf 'Genetic disorder of sex development' 'Sex chromosome disorder of sex development' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93339 Polydactyly of a biphalangeal thumb 'Polydactyly of a biphalangeal thumb' SubClassOf 'Preaxial polydactyly of fingers' 'Polydactyly of a biphalangeal thumb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93338 Polysyndactyly 'Polysyndactyly' SubClassOf 'Preaxial polydactyly of fingers' 'Polysyndactyly' SubClassOf 'Genetic congenital limb malformation' 'Polysyndactyly' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_93337 Polydactyly of an index finger 'Polydactyly of an index finger' SubClassOf 'Preaxial polydactyly of fingers' 'Polydactyly of an index finger' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93336 Polydactyly of a triphalangeal thumb 'Polydactyly of a triphalangeal thumb' SubClassOf 'Preaxial polydactyly of fingers' 'Polydactyly of a triphalangeal thumb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93335 Postaxial polydactyly type B 'Postaxial polydactyly type B' SubClassOf 'Postaxial polydactyly of fingers' 'Postaxial polydactyly type B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93334 Postaxial polydactyly type A 'Postaxial polydactyly type A' SubClassOf 'Postaxial polydactyly of fingers' 'Postaxial polydactyly type A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93333 Pelviscapular dysplasia 'Pelviscapular dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Pelviscapular dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_68373 Peroxisomal disease 'Peroxisomal disease' SubClassOf 'Inborn errors of metabolism' 'Peroxisomal disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276267 Xeroderma pigmentosum complementation group G 'Xeroderma pigmentosum complementation group G' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Retinal dystrophy' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Syndromic genetic deafness' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Xeroderma pigmentosum complementation group G' SubClassOf 'progeroid syndrome' http://www.orpha.net/ORDO/Orphanet_93347 Anauxetic dysplasia 'Anauxetic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Anauxetic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276261 Xeroderma pigmentosum complementation group E 'Xeroderma pigmentosum complementation group E' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group E' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum complementation group E' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum complementation group E' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum complementation group E' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_276264 Xeroderma pigmentosum complementation group F 'Xeroderma pigmentosum complementation group F' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Retinal dystrophy' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum complementation group F' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Syndromic genetic deafness' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_93352 Spondyloepimetaphyseal dysplasia, Shohat type 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Rare male infertility due to adrenal disorder of genetic origin' 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93351 Spondyloepimetaphyseal dysplasia, Irapa type 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276255 Xeroderma pigmentosum complementation group C 'Xeroderma pigmentosum complementation group C' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group C' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum complementation group C' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum complementation group C' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum complementation group C' SubClassOf 'progeroid syndrome' http://www.orpha.net/ORDO/Orphanet_276258 Xeroderma pigmentosum complementation group D 'Xeroderma pigmentosum complementation group D' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Retinal dystrophy' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Syndromic genetic deafness' 'Xeroderma pigmentosum complementation group D' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_93359 Spondyloepimetaphyseal dysplasia with joint laxity 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_68356 Leukodystrophy 'Leukodystrophy' SubClassOf 'Rare genetic neurological disorder' 'Leukodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93356 Spondyloepimetaphyseal dysplasia, Missouri type 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276252 Xeroderma pigmentosum complementation group B 'Xeroderma pigmentosum complementation group B' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Retinal dystrophy' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Xeroderma pigmentosum complementation group B' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_93360 Spondyloepimetaphyseal dysplasia with multiple dislocations 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009905 urban-Rogers-Meyer syndrome 'urban-Rogers-Meyer syndrome' SubClassOf 'syndromic intellectual disability' 'urban-Rogers-Meyer syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009903 postaxial acrofacial dysostosis 'postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 'Bartsocas-Papas syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Bartsocas-Papas syndrome' SubClassOf 'popliteal pterygium syndrome' 'Bartsocas-Papas syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Bartsocas-Papas syndrome' SubClassOf 'popliteal pterygium syndrome' http://www.orpha.net/ORDO/Orphanet_93307 Multiple epiphyseal dysplasia type 4 'Multiple epiphyseal dysplasia type 4' SubClassOf 'Sulfation-related bone disorder' 'Multiple epiphyseal dysplasia type 4' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009914 pseudodiastrophic dysplasia 'pseudodiastrophic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800086 http://purl.obolibrary.org/obo/MONDO_0010907 familial hypertryptophanemia 'familial hypertryptophanemia' SubClassOf 'inborn disorder of tryptophan metabolism' 'familial hypertryptophanemia' SubClassOf 'inborn disorder of tryptophan metabolism' http://www.orpha.net/ORDO/Orphanet_93304 Autosomal dominant brachyolmia 'Autosomal dominant brachyolmia' SubClassOf 'Brachyolmia' 'Autosomal dominant brachyolmia' SubClassOf 'TRPV4-related bone disorder' 'Autosomal dominant brachyolmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93302 Brachyolmia, Maroteaux type 'Brachyolmia, Maroteaux type' SubClassOf 'Brachyolmia' 'Brachyolmia, Maroteaux type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009910 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'syndromic intellectual disability' 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_68385 Neurometabolic disease 'Neurometabolic disease' SubClassOf 'Rare genetic neurological disorder' 'Neurometabolic disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_68380 Mitochondrial disease 'Mitochondrial disease' SubClassOf 'Developmental anomaly of metabolic origin' 'Mitochondrial disease' SubClassOf 'Disorder of energy metabolism' 'Mitochondrial disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93308 Multiple epiphyseal dysplasia type 1 'Multiple epiphyseal dysplasia type 1' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009928 pulmonary alveolar microlithiasis 'pulmonary alveolar microlithiasis' SubClassOf 'lung disease' 'pulmonary alveolar microlithiasis' SubClassOf 'lung disease' http://www.orpha.net/ORDO/Orphanet_93317 Spondylometaphyseal dysplasia, Sedaghatian type 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'Spondylodysplastic dysplasia' 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009926 autosomal recessive multiple pterygium syndrome 'autosomal recessive multiple pterygium syndrome' SubClassOf 'syndromic disease' 'autosomal recessive multiple pterygium syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_93316 Spondylometaphyseal dysplasia, Schmidt type 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93315 Spondylometaphyseal dysplasia, 'corner fracture' type 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009924 vitamin D-dependent rickets, type 1 'vitamin D-dependent rickets, type 1' SubClassOf 'vitamin D-dependent rickets' 'vitamin D-dependent rickets, type 1' SubClassOf 'vitamin D-dependent rickets' http://www.orpha.net/ORDO/Orphanet_93314 Spondylometaphyseal dysplasia, Kozlowski type 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'TRPV4-related bone disorder' 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009921 holoprosencephaly-postaxial polydactyly syndrome 'holoprosencephaly-postaxial polydactyly syndrome' SubClassOf 'syndromic intellectual disability' 'holoprosencephaly-postaxial polydactyly syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_93311 Multiple epiphyseal dysplasia type 5 'Multiple epiphyseal dysplasia type 5' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93321 Radial hemimelia 'Radial hemimelia' SubClassOf 'Hemimelia' 'Radial hemimelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93320 Ulnar hemimelia 'Ulnar hemimelia' SubClassOf 'Hemimelia' 'Ulnar hemimelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009934 alveolar capillary dysplasia with misalignment of pulmonary veins 'alveolar capillary dysplasia with misalignment of pulmonary veins' SubClassOf 'congenital pulmonary veins anomaly' 'alveolar capillary dysplasia with misalignment of pulmonary veins' SubClassOf 'congenital pulmonary veins anomaly' http://www.orpha.net/ORDO/Orphanet_254898 Deafness - encephaloneuropathy - obesity - valvulopathy 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'Coenzyme Q10 deficiency' 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'Mitochondrial disease with peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0010924 D-2-hydroxyglutaric aciduria 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://www.orpha.net/ORDO/Orphanet_254892 Autosomal dominant progressive external ophthalmoplegia 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009948 pyropoikilocytosis, hereditary 'pyropoikilocytosis, hereditary' SubClassOf 'genetic disorder' 'pyropoikilocytosis, hereditary' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009943 Pyle disease 'Pyle disease' SubClassOf 'primary bone dysplasia' 'Pyle disease' SubClassOf 'genetic disorder' 'Pyle disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0009940 pycnodysostosis 'pycnodysostosis' SubClassOf 'osteopetrosis' 'pycnodysostosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0010932 progressive bifocal chorioretinal atrophy 'progressive bifocal chorioretinal atrophy' SubClassOf 'inherited retinal dystrophy' 'progressive bifocal chorioretinal atrophy' SubClassOf 'inherited retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_1001849 staphylococcal skin infections 'staphylococcal skin infections' SubClassOf 'bacterial disease' 'staphylococcal skin infections' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_254871 Mitochondrial DNA depletion syndrome, hepatocerebral form 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009955 rapadilino syndrome 'rapadilino syndrome' SubClassOf 'congenital limb malformation' 'rapadilino syndrome' SubClassOf 'dysostosis of genetic origin' 'rapadilino syndrome' SubClassOf 'autosomal recessive disease' 'rapadilino syndrome' SubClassOf 'non-syndromic limb reduction defect' 'rapadilino syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009954 Ramon syndrome 'Ramon syndrome' SubClassOf 'genetic disorder' 'Ramon syndrome' SubClassOf 'musculoskeletal system disease' 'Ramon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://www.orpha.net/ORDO/Orphanet_254875 Mitochondrial DNA depletion syndrome, myopathic form 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'Disorder of pyrimidine metabolism' 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001853 submandibular gland neoplasm 'submandibular gland neoplasm' SubClassOf 'neoplasm of major salivary gland' 'submandibular gland neoplasm' SubClassOf 'neoplasm of major salivary gland' http://purl.obolibrary.org/obo/MONDO_0009953 leukocyte adhesion deficiency type II 'leukocyte adhesion deficiency type II' SubClassOf 'leukocyte adhesion deficiency' 'leukocyte adhesion deficiency type II' SubClassOf 'leukocyte adhesion deficiency' http://purl.obolibrary.org/obo/MONDO_0009952 radioulnar synostosis-developmental delay-hypotonia syndrome 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'syndromic intellectual disability' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'congenital radioulnar synostosis' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'syndromic intellectual disability' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'congenital radioulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0009950 pyruvate kinase deficiency of red cells 'pyruvate kinase deficiency of red cells' SubClassOf 'pyruvate metabolism disorder' 'pyruvate kinase deficiency of red cells' SubClassOf 'pyruvate metabolism disorder' http://www.orpha.net/ORDO/Orphanet_264200 14q22q23 microdeletion syndrome '14q22q23 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' '14q22q23 microdeletion syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '14q22q23 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' '14q22q23 microdeletion syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_1001857 Takayasu arteritis 'Takayasu arteritis' SubClassOf 'Arteritis' 'Takayasu arteritis' SubClassOf 'Arteritis' http://purl.obolibrary.org/obo/MONDO_0009965 Perlman syndrome 'Perlman syndrome' SubClassOf 'syndromic disease' 'Perlman syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_254886 Autosomal recessive progressive external ophthalmoplegia 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007301 cerebrocostomandibular syndrome 'cerebrocostomandibular syndrome' SubClassOf 'dysostosis of genetic origin' 'cerebrocostomandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800075 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 'familial cystic renal disease' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'syndromic retinitis pigmentosa' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'retinal ciliopathy' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'Jeune syndrome' http://purl.obolibrary.org/obo/MONDO_0009963 Ulbright-Hodes syndrome 'Ulbright-Hodes syndrome' SubClassOf 'syndromic intellectual disability' 'Ulbright-Hodes syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_254881 Spinocerebellar ataxia with epilepsy 'Spinocerebellar ataxia with epilepsy' SubClassOf 'Ataxia neuropathy spectrum' 'Spinocerebellar ataxia with epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001869 dysentery 'dysentery' SubClassOf 'intestinal infectious disease' 'dysentery' SubClassOf 'intestinal infectious disease' http://purl.obolibrary.org/obo/MONDO_0007319 chondrocalcinosis 2 'chondrocalcinosis 2' SubClassOf 'has modifier' some 'rare' 'chondrocalcinosis 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800096 http://purl.obolibrary.org/obo/MONDO_0007316 Chiari malformation type I 'Chiari malformation type I' SubClassOf 'Chiari malformation' 'Chiari malformation type I' SubClassOf 'Chiari malformation' http://www.orpha.net/ORDO/Orphanet_276249 Xeroderma pigmentosum complementation group A 'Xeroderma pigmentosum complementation group A' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group A' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum complementation group A' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum complementation group A' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum complementation group A' SubClassOf 'Genetic photodermatosis' http://purl.obolibrary.org/obo/MONDO_0009977 Knobloch syndrome 'Knobloch syndrome' SubClassOf 'vitreoretinal degeneration' 'Knobloch syndrome' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0007315 cherubism 'cherubism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://purl.obolibrary.org/obo/MONDO_0010966 achondrogenesis type IB 'achondrogenesis type IB' SubClassOf 'sulfation-related bone disorder' 'achondrogenesis type IB' SubClassOf 'sulfation-related bone disorder' http://www.ebi.ac.uk/efo/EFO_1001872 agoraphobia 'agoraphobia' SubClassOf 'phobic disorder' 'agoraphobia' SubClassOf 'phobic disorder' http://www.ebi.ac.uk/efo/EFO_0001423 encephalomyelitis 'encephalomyelitis' SubClassOf 'central nervous system infection' 'encephalomyelitis' SubClassOf 'inflammatory disease' 'encephalomyelitis' SubClassOf 'central nervous system disease' 'encephalomyelitis' SubClassOf 'inflammatory disease' 'encephalomyelitis' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0001422 cirrhosis of liver 'cirrhosis of liver' SubClassOf 'liver disease' 'cirrhosis of liver' SubClassOf 'liver disease' http://www.orpha.net/ORDO/Orphanet_181393 Growth hormone insensitivity syndrome 'Growth hormone insensitivity syndrome' SubClassOf 'Rare genetic hypothalamic or pituitary disease' 'Growth hormone insensitivity syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_181390 Hypogonadotropic hypogonadism associated with other endocrinopathies 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'Rare genetic hypothalamic or pituitary disease' 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' http://www.orpha.net/ORDO/Orphanet_93372 Familial hypocalciuric hypercalcemia type 1 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'Familial hypocalciuric hypercalcemia' 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'participates_in' some 'calcium ion homeostasis' 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' http://www.orpha.net/ORDO/Orphanet_276234 Non-syndromic male infertility due to sperm motility disorder 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'Male infertility due to sperm motility disorder' 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007329 cirrhosis, familial 'cirrhosis, familial' SubClassOf 'cirrhosis of liver' 'cirrhosis, familial' SubClassOf 'cirrhosis of liver' http://www.ebi.ac.uk/efo/EFO_1001882 cutaneous nodular amyloidosis 'cutaneous nodular amyloidosis' SubClassOf 'primary cutaneous amyloidosis' 'cutaneous nodular amyloidosis' SubClassOf 'primary cutaneous amyloidosis' http://www.ebi.ac.uk/efo/EFO_1001881 cold urticaria 'cold urticaria' SubClassOf 'urticaria' 'cold urticaria' SubClassOf 'urticaria' http://www.ebi.ac.uk/efo/EFO_1001887 epicondylitis 'epicondylitis' SubClassOf 'inflammatory disease' 'epicondylitis' SubClassOf 'bone inflammation disease' 'epicondylitis' SubClassOf 'inflammatory disease' 'epicondylitis' SubClassOf 'bone inflammation disease' http://www.orpha.net/ORDO/Orphanet_93387 Brachydactyly type E 'Brachydactyly type E' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type E' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93384 Brachydactyly type C 'Brachydactyly type C' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93383 Brachydactyly type B 'Brachydactyly type B' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93382 Brachydactyly type A6 'Brachydactyly type A6' SubClassOf 'Acromesomelic dysplasia' 'Brachydactyly type A6' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_276223 Mucopolysaccharidosis type 6, slowly progressing 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'Mucopolysaccharidosis type 6' 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007339 blepharocheilodontic syndrome 'blepharocheilodontic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'blepharocheilodontic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_93389 Brachydactyly type A5 'Brachydactyly type A5' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009998 Richieri Costa-Pereira syndrome 'Richieri Costa-Pereira syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://www.orpha.net/ORDO/Orphanet_93388 Brachydactyly type A1 'Brachydactyly type A1' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001892 generalized anxiety disorder 'generalized anxiety disorder' SubClassOf 'anxiety disorder' 'generalized anxiety disorder' SubClassOf 'anxiety disorder' http://purl.obolibrary.org/obo/MONDO_0010983 dystonia 9 'dystonia 9' SubClassOf 'paroxysmal dystonia' 'dystonia 9' SubClassOf 'paroxysmal dystonia' http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome 'Hermansky-Pudlak syndrome' SubClassOf 'syndromic disease' 'Hermansky-Pudlak syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_93398 Genochondromatosis type 2 'Genochondromatosis type 2' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Genochondromatosis type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93397 Brachydactyly type A7 'Brachydactyly type A7' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93396 Brachydactyly type A2 'Brachydactyly type A2' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93394 Brachydactyly type A4 'Brachydactyly type A4' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276212 Mucopolysaccharidosis type 6, rapidly progressing 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'Mucopolysaccharidosis type 6' 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020300 autosomal dominant nocturnal frontal lobe epilepsy 'autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'frontal lobe epilepsy' 'autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'frontal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0010999 fallot complex-intellectual disability-growth delay syndrome 'fallot complex-intellectual disability-growth delay syndrome' SubClassOf 'syndromic intellectual disability' 'fallot complex-intellectual disability-growth delay syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007342 clubfoot 'clubfoot' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0007340 cleidocranial dysplasia 'cleidocranial dysplasia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_181387 Rare disorder with hypogonadotropic hypogonadism 'Rare disorder with hypogonadotropic hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Rare disorder with hypogonadotropic hypogonadism' SubClassOf 'female reproductive system disease' 'Rare disorder with hypogonadotropic hypogonadism' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Rare disorder with hypogonadotropic hypogonadism' SubClassOf 'Rare genetic hypothalamic or pituitary disease' http://purl.obolibrary.org/obo/MONDO_0020306 absent tibia-polydactyly syndrome 'absent tibia-polydactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'absent tibia-polydactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0010993 Harrod syndrome 'Harrod syndrome' SubClassOf 'syndromic intellectual disability' 'Harrod syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019327 phakomatosis spilorosea 'phakomatosis spilorosea' SubClassOf 'phakomatosis pigmentovascularis' 'phakomatosis spilorosea' SubClassOf 'phakomatosis pigmentovascularis' http://purl.obolibrary.org/obo/MONDO_0019326 phakomatosis cesiomarmorata 'phakomatosis cesiomarmorata' SubClassOf 'phakomatosis pigmentovascularis' 'phakomatosis cesiomarmorata' SubClassOf 'phakomatosis pigmentovascularis' http://purl.obolibrary.org/obo/MONDO_0019325 phakomatosis cesioflammea 'phakomatosis cesioflammea' SubClassOf 'phakomatosis pigmentovascularis' 'phakomatosis cesioflammea' SubClassOf 'phakomatosis pigmentovascularis' http://www.orpha.net/ORDO/Orphanet_168491 Late infantile neuronal ceroid lipofuscinosis 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007354 coloboma of optic nerve 'coloboma of optic nerve' SubClassOf 'visual pathway disorder' 'coloboma of optic nerve' SubClassOf 'visual pathway disorder' http://purl.obolibrary.org/obo/MONDO_0007355 uveal coloboma-cleft lip and palate-intellectual disability 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'syndromic intellectual disability' 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007352 renal coloboma syndrome 'renal coloboma syndrome' SubClassOf 'autosomal dominant disease' 'renal coloboma syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 'congenital dyserythropoietic anemia type 1' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 1' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf 'syndromic intellectual disability' 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019336 Gardner syndrome 'Gardner syndrome' SubClassOf 'classic familial adenomatous polyposis' 'Gardner syndrome' SubClassOf 'classic familial adenomatous polyposis' http://www.orpha.net/ORDO/Orphanet_254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'Neurometabolic disease' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254807 Multiple mitochondrial DNA deletion syndrome 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'Mitochondrial DNA maintenance syndrome' 'Multiple mitochondrial DNA deletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_977 Adrenomyodystrophy 'Adrenomyodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Adrenomyodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168486 Congenital neuronal ceroid lipofuscinosis 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'Lysosomal disease' 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'Genetic neurodegenerative disease' 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'Unclassified primitive or secondary maculopathy' http://www.orpha.net/ORDO/Orphanet_994 Fetal akinesia deformation sequence 'Fetal akinesia deformation sequence' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fetal akinesia deformation sequence' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Fetal akinesia deformation sequence' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007369 hereditary coproporphyria 'hereditary coproporphyria' SubClassOf 'hepatic porphyria' 'hereditary coproporphyria' SubClassOf 'hepatic porphyria' http://purl.obolibrary.org/obo/MONDO_0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities 'immunoskeletal dysplasia with neurodevelopmental abnormalities' SubClassOf 'genetic disorder' 'immunoskeletal dysplasia with neurodevelopmental abnormalities' SubClassOf 'spondyloepiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_990 Agnathia - holoprosencephaly - situs inversus 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0007363 congenital contractural arachnodactyly 'congenital contractural arachnodactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 http://purl.obolibrary.org/obo/MONDO_0019346 sialidosis type 1 'sialidosis type 1' SubClassOf 'sialidosis' 'sialidosis type 1' SubClassOf 'sialidosis' http://www.orpha.net/ORDO/Orphanet_254818 Ataxia neuropathy spectrum 'Ataxia neuropathy spectrum' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Ataxia neuropathy spectrum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_989 Hypoglossia - hypodactyly 'Hypoglossia - hypodactyly' SubClassOf 'Oromandibular-limb hypogenesis syndrome' 'Hypoglossia - hypodactyly' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' http://purl.obolibrary.org/obo/MONDO_0007379 Meesmann corneal dystrophy 'Meesmann corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'Meesmann corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007376 fleck corneal dystrophy 'fleck corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'fleck corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007377 granular corneal dystrophy type I 'granular corneal dystrophy type I' SubClassOf 'stromal corneal dystrophy' 'granular corneal dystrophy type I' SubClassOf 'stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_999 Ermine phenotype 'Ermine phenotype' SubClassOf 'Syndromic genetic deafness' 'Ermine phenotype' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020370 Cogan-Reese syndrome 'Cogan-Reese syndrome' SubClassOf 'iridocorneal endothelial syndrome' 'Cogan-Reese syndrome' SubClassOf 'iridocorneal endothelial syndrome' http://www.orpha.net/ORDO/Orphanet_254851 Maternally-inherited mitochondrial dystonia 'Maternally-inherited mitochondrial dystonia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited mitochondrial dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001380 hypopituitarism 'hypopituitarism' SubClassOf 'pituitary gland disease' 'hypopituitarism' SubClassOf 'pituitary gland disease' http://www.orpha.net/ORDO/Orphanet_254854 Pure mitochondrial myopathy 'Pure mitochondrial myopathy' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Pure mitochondrial myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_181428 Hyperalphalipoproteinemia 'Hyperalphalipoproteinemia' SubClassOf 'Rare hyperlipidemia' 'Hyperalphalipoproteinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disorder 'erythrocyte disorder' SubClassOf 'hematologic disease' 'erythrocyte disorder' SubClassOf 'hematologic disease' http://www.orpha.net/ORDO/Orphanet_181425 Major hypertriglyceridemia 'Major hypertriglyceridemia' SubClassOf 'Rare hyperlipidemia' 'Major hypertriglyceridemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020371 essential iris atrophy 'essential iris atrophy' SubClassOf 'iridocorneal endothelial syndrome' 'essential iris atrophy' SubClassOf 'iridocorneal endothelial syndrome' http://purl.obolibrary.org/obo/MONDO_0044349 acquired hemoglobinopathy 'acquired hemoglobinopathy' SubClassOf 'hemoglobinopathy' 'acquired hemoglobinopathy' SubClassOf 'hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy 'hemoglobinopathy' SubClassOf 'erythrocyte disorder' 'hemoglobinopathy' SubClassOf 'erythrocyte disorder' http://www.orpha.net/ORDO/Orphanet_254846 Isolated oxidative phosphorylation complex disorder 'Isolated oxidative phosphorylation complex disorder' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Isolated oxidative phosphorylation complex disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia 'Fanconi anemia' SubClassOf 'inherited aplastic anemia' 'Fanconi anemia' SubClassOf 'inherited aplastic anemia' 'Fanconi anemia' SubClassOf 'telomere syndrome' http://www.orpha.net/ORDO/Orphanet_254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168448 Spondyloepimetaphyseal dysplasia, Bieganski type 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001376 synovial sarcoma 'synovial sarcoma' SubClassOf 'soft tissue sarcoma' 'synovial sarcoma' SubClassOf 'soft tissue sarcoma' http://www.orpha.net/ORDO/Orphanet_254857 Lethal infantile mitochondrial myopathy 'Lethal infantile mitochondrial myopathy' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Lethal infantile mitochondrial myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254830 Mitochondrial substrate carrier disorder 'Mitochondrial substrate carrier disorder' SubClassOf 'Mitochondrial membrane transport disorder' 'Mitochondrial substrate carrier disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254834 Mitochondrial protein import disorder 'Mitochondrial protein import disorder' SubClassOf 'Mitochondrial membrane transport disorder' 'Mitochondrial protein import disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_181402 Syndrome with hypoparathyroidism 'Syndrome with hypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' 'Syndrome with hypoparathyroidism' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Syndrome with hypoparathyroidism' SubClassOf 'genetic hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_254827 Mitochondrial membrane transport disorder 'Mitochondrial membrane transport disorder' SubClassOf 'Mitochondrial disease' 'Mitochondrial membrane transport disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001818 oral submucous fibrosis 'oral submucous fibrosis' SubClassOf 'mouth disease' 'oral submucous fibrosis' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0020380 autosomal dominant cerebellar ataxia 'autosomal dominant cerebellar ataxia' SubClassOf 'eye degenerative disorder' 'autosomal dominant cerebellar ataxia' SubClassOf 'neuro-ophthalmological disease' 'autosomal dominant cerebellar ataxia' SubClassOf 'cerebellar degeneration' 'autosomal dominant cerebellar ataxia' SubClassOf 'cerebellar degeneration' http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm 'benign soft tissue neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'benign soft tissue neoplasm' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0020384 Niemann-Pick disease type E 'Niemann-Pick disease type E' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type E' SubClassOf 'Niemann-Pick disease' http://www.orpha.net/ORDO/Orphanet_181412 Adrenogenital syndrome 'Adrenogenital syndrome' SubClassOf 'Rare genetic adrenal disease' 'Adrenogenital syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001825 pleurisy 'pleurisy' SubClassOf 'pleural disorder' 'pleurisy' SubClassOf 'pleural disorder' http://www.ebi.ac.uk/efo/EFO_1001824 pinguecula 'pinguecula' SubClassOf 'conjunctival degeneration' 'pinguecula' SubClassOf 'conjunctival degeneration' http://www.ebi.ac.uk/efo/EFO_1001822 Paroxysmal Hemicrania 'Paroxysmal Hemicrania' SubClassOf 'trigeminal autonomic cephalalgia' 'Paroxysmal Hemicrania' SubClassOf 'trigeminal autonomic cephalalgia' http://www.orpha.net/ORDO/Orphanet_254837 Unspecified mitochondrial disorder 'Unspecified mitochondrial disorder' SubClassOf 'Mitochondrial disease' 'Unspecified mitochondrial disorder' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Unspecified mitochondrial disorder' SubClassOf 'Disorder of energy metabolism' http://www.orpha.net/ORDO/Orphanet_910 Xeroderma pigmentosum 'Xeroderma pigmentosum' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_909 Cerebrotendinous xanthomatosis 'Cerebrotendinous xanthomatosis' SubClassOf 'Metabolic disease with cataract' 'Cerebrotendinous xanthomatosis' SubClassOf 'Genetic subcutaneous tissue disorder' 'Cerebrotendinous xanthomatosis' SubClassOf 'Rare syndromic dyslipidemia' 'Cerebrotendinous xanthomatosis' SubClassOf 'Neurometabolic disease' 'Cerebrotendinous xanthomatosis' SubClassOf 'Leukodystrophy' 'Cerebrotendinous xanthomatosis' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Cerebrotendinous xanthomatosis' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Cerebrotendinous xanthomatosis' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Cerebrotendinous xanthomatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_908 Fragile X syndrome 'Fragile X syndrome' SubClassOf 'syndromic genetic obesity' 'Fragile X syndrome' SubClassOf 'epilepsy' 'Fragile X syndrome' SubClassOf 'Syndrome associated with Pierre Robin syndrome' 'Fragile X syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Fragile X syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fragile X syndrome' SubClassOf 'Rare disease with autism' 'Fragile X syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Fragile X syndrome' SubClassOf 'Syndromic obesity' 'Fragile X syndrome' SubClassOf 'Motor stereotypies' 'Fragile X syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_920 Ablepharon macrostomia syndrome 'Ablepharon macrostomia syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Ablepharon macrostomia syndrome' SubClassOf 'Orofacial clefting syndrome' 'Ablepharon macrostomia syndrome' SubClassOf 'Microblepharon - ablephara' 'Ablepharon macrostomia syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Ablepharon macrostomia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome 'Zellweger syndrome' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Zellweger syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Zellweger syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Zellweger syndrome' SubClassOf 'Rare genetic renal disease' http://www.orpha.net/ORDO/Orphanet_911 Combined immunodeficiency due to ZAP70 deficiency 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_932 Achondrogenesis 'Achondrogenesis' SubClassOf 'Spondylodysplastic dysplasia' 'Achondrogenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_943 Malonic aciduria 'Malonic aciduria' SubClassOf 'Metabolic disease due to other fatty acid oxidation disorder' 'Malonic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_935 Short-limb skeletal dysplasia with severe combined immunodeficiency 'Short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_952 Acrofacial dysostosis, Weyers type 'Acrofacial dysostosis, Weyers type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Ectodermal dysplasia syndrome' 'Acrofacial dysostosis, Weyers type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_950 Acrodysostosis 'Acrodysostosis' SubClassOf 'Mandibulofacial dysostosis' 'Acrodysostosis' SubClassOf 'Acromelic dysplasia' 'Acrodysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_949 Acrocraniofacial dysostosis 'Acrocraniofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'Acrocraniofacial dysostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acrocraniofacial dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_946 Acrocephalosyndactyly 'Acrocephalosyndactyly' SubClassOf 'Syndromic craniosynostosis' 'Acrocephalosyndactyly' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Acrocephalosyndactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_965 Acromegaloid facial appearance syndrome 'Acromegaloid facial appearance syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Acromegaloid facial appearance syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_958 Acro-renal-mandibular syndrome 'Acro-renal-mandibular syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acro-renal-mandibular syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_957 Acropectorovertebral dysplasia 'Acropectorovertebral dysplasia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Acropectorovertebral dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_956 Acro-pectoro-renal dysplasia 'Acro-pectoro-renal dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acro-pectoro-renal dysplasia' SubClassOf 'Genetic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_955 Acroosteolysis dominant type 'Acroosteolysis dominant type' SubClassOf 'Primary osteolysis' 'Acroosteolysis dominant type' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acroosteolysis dominant type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_976 Adenine phosphoribosyltransferase deficiency 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenine phosphoribosyltransferase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'Congenital absence/hypoplasia of fingers excluding thumb' 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_972 Hereditary continuous muscle fiber activity 'Hereditary continuous muscle fiber activity' SubClassOf 'Non-dystrophic myopathy' 'Hereditary continuous muscle fiber activity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_971 Acrorenal syndrome 'Acrorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acrorenal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acrorenal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_969 Acromicric dysplasia 'Acromicric dysplasia' SubClassOf 'Acromelic dysplasia' 'Acromicric dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_968 Acromesomelic dysplasia, Hunter-Thomson type 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'Acromesomelic dysplasia' 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_966 Hypertrichosis-acromegaloid facial appearance syndrome 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'Hypertrichosis' 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001014 chronic leukemia 'chronic leukemia' SubClassOf 'leukemia' 'chronic leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0001023 prolymphocytic leukemia 'prolymphocytic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'prolymphocytic leukemia' SubClassOf 'chronic leukemia' 'prolymphocytic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'prolymphocytic leukemia' SubClassOf 'chronic leukemia' http://purl.obolibrary.org/obo/MONDO_0001020 amblyopia 'amblyopia' SubClassOf 'vision disorder' 'amblyopia' SubClassOf 'vision disorder' http://purl.obolibrary.org/obo/MONDO_0015667 acute myeloid leukemia by FAB classification 'acute myeloid leukemia by FAB classification' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0013014 spondyloepimetaphyseal dysplasia, aggrecan type 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'aggrecan-related bone disorder' 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'aggrecan-related bone disorder' 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015674 late infantile neuronal ceroid lipofuscinosis 'late infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'late infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0013017 hypotrichosis 5 'hypotrichosis 5' SubClassOf 'hypotrichosis' 'hypotrichosis 5' SubClassOf 'hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0001040 nasopharyngitis 'nasopharyngitis' SubClassOf 'inflammatory disease' 'nasopharyngitis' SubClassOf 'nasopharyngeal disorder' 'nasopharyngitis' SubClassOf 'inflammatory disease' 'nasopharyngitis' SubClassOf 'nasopharyngeal disorder' http://purl.obolibrary.org/obo/MONDO_0013027 posterior amorphous corneal dystrophy 'posterior amorphous corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'posterior amorphous corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0015681 childhood disintegrative disorder 'childhood disintegrative disorder' SubClassOf 'pervasive developmental disorder' 'childhood disintegrative disorder' SubClassOf 'pervasive developmental disorder' http://purl.obolibrary.org/obo/MONDO_0001059 gastric lymphoma 'gastric lymphoma' SubClassOf 'gastrointestinal lymphoma' 'gastric lymphoma' SubClassOf 'gastrointestinal lymphoma' http://purl.obolibrary.org/obo/MONDO_0013036 Zechi-Ceide syndrome 'Zechi-Ceide syndrome' SubClassOf 'syndromic intellectual disability' 'Zechi-Ceide syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013035 orofaciodigital syndrome XI 'orofaciodigital syndrome XI' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome XI' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0013038 CLOVES syndrome 'CLOVES syndrome' SubClassOf 'inherited skin tumor' 'CLOVES syndrome' SubClassOf 'vascular neoplasm' 'CLOVES syndrome' SubClassOf 'inherited skin tumor' 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 'CLOVES syndrome' SubClassOf 'hereditary disorder of connective tissue' 'CLOVES syndrome' SubClassOf 'vascular bone neoplasm' 'CLOVES syndrome' SubClassOf 'bone benign neoplasm' http://www.orpha.net/ORDO/Orphanet_174590 Congenital hypogonadotropic hypogonadism 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Congenital hypogonadotropic hypogonadism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_30924 Primary hypomagnesemia with secondary hypocalcemia 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'inborn errors of metabolism' 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_30925 Hereditary central diabetes insipidus 'Hereditary central diabetes insipidus' SubClassOf 'Pituitary deficiency' 'Hereditary central diabetes insipidus' SubClassOf 'Rare genetic hypothalamic or pituitary disease' http://purl.obolibrary.org/obo/MONDO_0013051 autosomal recessive cutis laxa type 2B 'autosomal recessive cutis laxa type 2B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://purl.obolibrary.org/obo/MONDO_0001087 schizotypal personality disorder 'schizotypal personality disorder' SubClassOf 'personality disorder' 'schizotypal personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0001085 interstitial nephritis 'interstitial nephritis' SubClassOf 'nephritis' 'interstitial nephritis' SubClassOf 'nephritis' http://purl.obolibrary.org/obo/MONDO_0001084 primary optic atrophy 'primary optic atrophy' SubClassOf 'optic atrophy' 'primary optic atrophy' SubClassOf 'optic atrophy' http://purl.obolibrary.org/obo/MONDO_0013090 chromosome 19q13.11 deletion syndrome 'chromosome 19q13.11 deletion syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome 19q13.11 deletion syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_208447 Bilateral generalized polymicrogyria 'Bilateral generalized polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral generalized polymicrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_208444 Bilateral frontal polymicrogyria 'Bilateral frontal polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral frontal polymicrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_208441 Bilateral parasagittal parieto-occipital polymicrogyria 'Bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_137634 Overgrowth - macrocephaly - facial dysmorphism 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf 'Overgrowth syndrome' 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf 'Genetic overgrowth/obesity syndrome' http://www.orpha.net/ORDO/Orphanet_137658 Microcephaly - intellectual disability - phalangeal and neurological anomalies 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_137653 Microcephaly - digital anomalies - intellectual disability 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_137667 Capillary malformation - arteriovenous malformation 'Capillary malformation - arteriovenous malformation' SubClassOf 'Genetic vascular anomaly' 'Capillary malformation - arteriovenous malformation' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_52368 Mohr-Tranebjaerg syndrome 'Mohr-Tranebjaerg syndrome' SubClassOf 'Mitochondrial protein import disorder' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Disorder of energy metabolism' http://www.orpha.net/ORDO/Orphanet_137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease due to glycogen synthase deficiency' 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006510 Herpes Zoster 'Herpes Zoster' SubClassOf 'post-viral disorder' 'Herpes Zoster' SubClassOf 'Varicella Zoster infection' 'Herpes Zoster' SubClassOf 'post-viral disorder' 'Herpes Zoster' SubClassOf 'Varicella Zoster infection' http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm 'renal pelvis neoplasm' SubClassOf 'kidney neoplasm' 'renal pelvis neoplasm' SubClassOf 'kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0015705 autosomal recessive centronuclear myopathy 'autosomal recessive centronuclear myopathy' SubClassOf 'TTN-related myopathy' 'autosomal recessive centronuclear myopathy' SubClassOf 'autosomal recessive disease' 'autosomal recessive centronuclear myopathy' SubClassOf 'centronuclear myopathy' 'autosomal recessive centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100493 'autosomal recessive centronuclear myopathy' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0015719 severe hemophilia A 'severe hemophilia A' SubClassOf 'hemophilia A' 'severe hemophilia A' SubClassOf 'hemophilia A' http://purl.obolibrary.org/obo/MONDO_0015713 idiopathic central precocious puberty 'idiopathic central precocious puberty' SubClassOf 'central precocious puberty' 'idiopathic central precocious puberty' SubClassOf 'central precocious puberty' http://purl.obolibrary.org/obo/MONDO_0015721 mild hemophilia A 'mild hemophilia A' SubClassOf 'hemophilia A' 'mild hemophilia A' SubClassOf 'hemophilia A' http://purl.obolibrary.org/obo/MONDO_0001104 toxic diffuse goiter 'toxic diffuse goiter' SubClassOf 'Hyperthyroidism' 'toxic diffuse goiter' SubClassOf 'Hyperthyroidism' http://www.ebi.ac.uk/efo/EFO_0006545 brain glioblastoma 'brain glioblastoma' SubClassOf 'brain glioma' 'brain glioblastoma' SubClassOf 'glioblastoma multiforme' 'brain glioblastoma' SubClassOf 'brain glioma' 'brain glioblastoma' SubClassOf 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_0006544 bladder transitional cell carcinoma 'bladder transitional cell carcinoma' SubClassOf 'urinary bladder carcinoma' 'bladder transitional cell carcinoma' SubClassOf 'urinary bladder carcinoma' http://purl.obolibrary.org/obo/MONDO_0015748 hereditary mucosal leukokeratosis 'hereditary mucosal leukokeratosis' SubClassOf 'inherited skin tumor' 'hereditary mucosal leukokeratosis' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0001110 chronic pyelonephritis 'chronic pyelonephritis' SubClassOf 'pyelonephritis' 'chronic pyelonephritis' SubClassOf 'pyelonephritis' http://purl.obolibrary.org/obo/MONDO_0001117 methemoglobinemia 'methemoglobinemia' SubClassOf 'hemoglobinopathy' 'methemoglobinemia' SubClassOf 'hemoglobinopathy' http://www.orpha.net/ORDO/Orphanet_353308 Pyruvate carboxylase deficiency, infantile form 'Pyruvate carboxylase deficiency, infantile form' SubClassOf 'pyruvate carboxylase deficiency disease' 'Pyruvate carboxylase deficiency, infantile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_353314 Pyruvate carboxylase deficiency, severe neonatal type 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'pyruvate carboxylase deficiency disease' 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284979 Neonatal Marfan syndrome 'Neonatal Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Neonatal Marfan syndrome' SubClassOf 'perinatal disease' 'Neonatal Marfan syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Neonatal Marfan syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001128 nasal cavity cancer 'nasal cavity cancer' SubClassOf 'respiratory system cancer' 'nasal cavity cancer' SubClassOf 'nasal cavity neoplasm' 'nasal cavity cancer' SubClassOf 'respiratory system cancer' 'nasal cavity cancer' SubClassOf 'nasal cavity neoplasm' http://purl.obolibrary.org/obo/MONDO_0003780 T-cell immunodeficiency 'T-cell immunodeficiency' SubClassOf 'immunodeficiency disease' 'T-cell immunodeficiency' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_353327 Congenital myasthenic syndromes with glycosylation defect 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Congenital myasthenic syndromes' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Disorder of protein N-glycosylation' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_353320 Pyruvate carboxylase deficiency, benign type 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'pyruvate carboxylase deficiency disease' 'Pyruvate carboxylase deficiency, benign type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006475 plasma cell leukemia 'plasma cell leukemia' SubClassOf 'plasma cell neoplasm' 'plasma cell leukemia' SubClassOf 'plasma cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0003569 cranial nerve neuropathy 'cranial nerve neuropathy' SubClassOf 'nervous system disease' 'cranial nerve neuropathy' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0006463 ovarian teratoma 'ovarian teratoma' SubClassOf 'Ovarian Germ Cell Tumor' 'ovarian teratoma' SubClassOf 'Ovarian Germ Cell Tumor' 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 'hereditary breast carcinoma' 'hereditary breast ovarian cancer syndrome' SubClassOf 'hereditary neoplastic syndrome' 'hereditary breast ovarian cancer syndrome' SubClassOf 'autosomal dominant disease' 'hereditary breast ovarian cancer syndrome' SubClassOf 'hereditary breast carcinoma' 'hereditary breast ovarian cancer syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0015579 Hb Bart's hydrops fetalis 'Hb Bart's hydrops fetalis' SubClassOf 'alpha thalassemia' 'Hb Bart's hydrops fetalis' SubClassOf 'alpha thalassemia' http://purl.obolibrary.org/obo/MONDO_0040566 inherited glutathione metabolism disease 'inherited glutathione metabolism disease' SubClassOf 'inborn disorder of the gamma-glutamyl cycle' 'inherited glutathione metabolism disease' SubClassOf 'inborn disorder of the gamma-glutamyl cycle' http://purl.obolibrary.org/obo/CL_0000047 neuronal stem cell 'neuronal stem cell' SubClassOf 'neural cell' http://www.orpha.net/ORDO/Orphanet_64280 Childhood absence epilepsy 'Childhood absence epilepsy' SubClassOf 'familial partial epilepsy' 'Childhood absence epilepsy' SubClassOf 'movement disorder' 'Childhood absence epilepsy' SubClassOf 'Familial partial epilepsy' 'Childhood absence epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003608 optic atrophy 'optic atrophy' SubClassOf 'optic nerve disorder' 'optic atrophy' SubClassOf 'optic nerve disorder' http://purl.obolibrary.org/obo/MONDO_0003606 adrenal medulla cancer 'adrenal medulla cancer' SubClassOf 'adrenal gland cancer' 'adrenal medulla cancer' SubClassOf 'adrenal gland cancer' http://www.orpha.net/ORDO/Orphanet_269215 Isolated Dandy-Walker malformation without hydrocephalus 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'Dandy-Walker syndrome' 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003619 salpingitis 'salpingitis' SubClassOf 'fallopian tube disease' 'salpingitis' SubClassOf 'fallopian tube disease' http://www.orpha.net/ORDO/Orphanet_269212 Isolated Dandy-Walker malformation with hydrocephalus 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'Dandy-Walker syndrome' 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003632 endocervicitis 'endocervicitis' SubClassOf 'inflammatory disease' 'endocervicitis' SubClassOf 'cervicitis' 'endocervicitis' SubClassOf 'inflammatory disease' 'endocervicitis' SubClassOf 'cervicitis' http://www.ebi.ac.uk/efo/EFO_0006438 HEp-2 'HEp-2' SubClassOf 'cervical cancer cell line' http://purl.obolibrary.org/obo/MONDO_0015613 dentin dysplasia 'dentin dysplasia' SubClassOf 'tooth hard tissue disease' 'dentin dysplasia' SubClassOf 'tooth hard tissue disease' http://www.orpha.net/ORDO/Orphanet_412206 Primary failure of tooth eruption 'Primary failure of tooth eruption' SubClassOf 'Rare odontal or periodontal disorder' 'Primary failure of tooth eruption' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015620 syndromic urogenital tract malformation 'syndromic urogenital tract malformation' SubClassOf 'disease of genitourinary system' http://purl.obolibrary.org/obo/MONDO_0003661 breast lymphoma 'breast lymphoma' SubClassOf 'lymphoma' 'breast lymphoma' SubClassOf 'breast cancer' 'breast lymphoma' SubClassOf 'lymphoma' 'breast lymphoma' SubClassOf 'breast cancer' http://www.orpha.net/ORDO/Orphanet_231013 Congenital trigeminal anesthesia 'Congenital trigeminal anesthesia' SubClassOf 'Genetic neuro-ophthalmological disease' 'Congenital trigeminal anesthesia' SubClassOf 'Genetic peripheral neuropathy' 'Congenital trigeminal anesthesia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder 'dystonic disorder' SubClassOf 'movement disorder' 'dystonic disorder' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0015428 choroidal atrophy-alopecia syndrome 'choroidal atrophy-alopecia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'choroidal atrophy-alopecia syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_0004194 IGA glomerulonephritis 'IGA glomerulonephritis' SubClassOf 'glomerulonephritis' 'IGA glomerulonephritis' SubClassOf 'glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0003454 conjunctival cancer 'conjunctival cancer' SubClassOf 'ocular cancer' 'conjunctival cancer' SubClassOf 'ocular cancer' http://www.ebi.ac.uk/efo/EFO_0004197 hepatitis B virus infection 'hepatitis B virus infection' SubClassOf 'viral human hepatitis infection' 'hepatitis B virus infection' SubClassOf 'viral human hepatitis infection' http://www.ebi.ac.uk/efo/EFO_0004198 skin neoplasm 'skin neoplasm' SubClassOf 'skin disease' 'skin neoplasm' SubClassOf 'neoplasm' 'skin neoplasm' SubClassOf 'skin disease' 'skin neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0004191 androgenetic alopecia 'androgenetic alopecia' SubClassOf 'endocrine alopecia' 'androgenetic alopecia' SubClassOf 'Alopecia' 'androgenetic alopecia' SubClassOf 'endocrine alopecia' 'androgenetic alopecia' SubClassOf 'Rare genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0004192 alopecia areata 'alopecia areata' SubClassOf 'alopecia' 'alopecia areata' SubClassOf 'Alopecia' 'alopecia areata' SubClassOf 'alopecia' 'alopecia areata' SubClassOf 'Rare genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0004190 open-angle glaucoma 'open-angle glaucoma' SubClassOf 'glaucoma' 'open-angle glaucoma' SubClassOf 'glaucoma' http://purl.obolibrary.org/obo/MONDO_0003473 spinal cord ependymoma 'spinal cord ependymoma' SubClassOf 'ependymoma' 'spinal cord ependymoma' SubClassOf 'ependymoma' http://purl.obolibrary.org/obo/MONDO_0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome 'Coffin-Siris syndrome' SubClassOf 'syndromic intellectual disability' 'Coffin-Siris syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_231040 Familial generalized lentiginosis 'Familial generalized lentiginosis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Familial generalized lentiginosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015463 craniodigital syndrome-intellectual disability syndrome 'craniodigital syndrome-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'craniodigital syndrome-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015474 cryptosporidiosis 'cryptosporidiosis' SubClassOf 'coccidiosis' 'cryptosporidiosis' SubClassOf 'coccidiosis' http://purl.obolibrary.org/obo/MONDO_0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome 'cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015486 keratoconus 'keratoconus' SubClassOf 'corneal disease' 'keratoconus' SubClassOf 'corneal disease' http://www.orpha.net/ORDO/Orphanet_52503 X-linked creatine transporter deficiency 'X-linked creatine transporter deficiency' SubClassOf 'Neurometabolic disease' 'X-linked creatine transporter deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked creatine transporter deficiency' SubClassOf 'Rare genetic neurological disorder' 'X-linked creatine transporter deficiency' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/CL_0000111 peripheral neuron 'peripheral neuron' SubClassOf 'neuron' 'peripheral neuron' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_208650 Cryopyrin-associated periodic syndrome 'Cryopyrin-associated periodic syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Cryopyrin-associated periodic syndrome' SubClassOf 'Hereditary periodic fever syndrome' 'Cryopyrin-associated periodic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306734 Primary dystonia, DYT21 type 'Primary dystonia, DYT21 type' SubClassOf 'Generalized isolated dystonia' 'Primary dystonia, DYT21 type' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_137871 Laminopathy type Decaudain-Vigouroux 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'Rare insulin-resistance syndrome' 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'Rare hyperlipidemia' 'Laminopathy type Decaudain-Vigouroux' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_137888 Auriculocondylar syndrome 'Auriculocondylar syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Auriculocondylar syndrome' SubClassOf 'Oculo-auriculo-vertebral spectrum' 'Auriculocondylar syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_64542 Acrofacial dysostosis, Kennedy-Teebi type 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_137898 Leukoencephalopathy with brain stem and spinal cord involvement - high lactate 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'Male infertility with teratozoospermia due to single gene mutation' 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'Male infertility with spermatogenesis disorder due to single gene mutation' http://www.ebi.ac.uk/efo/EFO_0006738 plasmacytoma 'plasmacytoma' SubClassOf 'plasma cell neoplasm' 'plasmacytoma' SubClassOf 'plasma cell neoplasm' http://www.orpha.net/ORDO/Orphanet_306765 Motor stereotypies 'Motor stereotypies' SubClassOf 'Rare genetic movement disorder' 'Motor stereotypies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006790 cerebral amyloid angiopathy 'cerebral amyloid angiopathy' SubClassOf 'cerebrovascular disorder' 'cerebral amyloid angiopathy' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0003510 malignant testicular germ cell tumor 'malignant testicular germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'testicular carcinoma' 'malignant testicular germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'testicular carcinoma' http://www.ebi.ac.uk/efo/EFO_0006788 anxiety disorder 'anxiety disorder' SubClassOf 'mental or behavioural disorder' 'anxiety disorder' SubClassOf 'mental or behavioural disorder' http://purl.obolibrary.org/obo/MONDO_0015517 common variable immunodeficiency 'common variable immunodeficiency' SubClassOf 'hereditary neoplastic syndrome' 'common variable immunodeficiency' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0003546 third cranial nerve disorder 'third cranial nerve disorder' SubClassOf 'peripheral nervous system disease' 'third cranial nerve disorder' SubClassOf 'cranial nerve neuropathy' 'third cranial nerve disorder' SubClassOf 'peripheral nervous system disease' 'third cranial nerve disorder' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0003544 spinal cord cancer 'spinal cord cancer' SubClassOf 'central nervous system cancer' 'spinal cord cancer' SubClassOf 'central nervous system cancer' http://www.ebi.ac.uk/efo/EFO_0004143 carpal tunnel syndrome 'carpal tunnel syndrome' SubClassOf 'nerve compression syndrome' 'carpal tunnel syndrome' SubClassOf 'nerve compression syndrome' http://purl.obolibrary.org/obo/MONDO_0015523 epithelioid hemangioendothelioma 'epithelioid hemangioendothelioma' SubClassOf 'hemangioendothelioma' 'epithelioid hemangioendothelioma' SubClassOf 'hemangioendothelioma' http://www.orpha.net/ORDO/Orphanet_208596 Genetic hyperparathyroidism 'Genetic hyperparathyroidism' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Genetic hyperparathyroidism' SubClassOf 'parathyroid disease' 'Genetic hyperparathyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_208593 Genetic hypoparathyroidism 'Genetic hypoparathyroidism' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Genetic hypoparathyroidism' SubClassOf 'genetic hypoparathyroidism' 'Genetic hypoparathyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017950 microcephalic primordial dwarfism 'microcephalic primordial dwarfism' SubClassOf 'syndromic intellectual disability' 'microcephalic primordial dwarfism' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_269510 Congenital non-communicating hydrocephalus 'Congenital non-communicating hydrocephalus' SubClassOf 'Congenital hydrocephalus' 'Congenital non-communicating hydrocephalus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015301 primary cutaneous amyloidosis 'primary cutaneous amyloidosis' SubClassOf 'amyloidosis' 'primary cutaneous amyloidosis' SubClassOf 'amyloidosis' http://www.orpha.net/ORDO/Orphanet_269505 Congenital communicating hydrocephalus 'Congenital communicating hydrocephalus' SubClassOf 'Congenital hydrocephalus' 'Congenital communicating hydrocephalus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017979 autoimmune lymphoproliferative syndrome 'autoimmune lymphoproliferative syndrome' SubClassOf 'neoplastic syndrome' 'autoimmune lymphoproliferative syndrome' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0015325 cataract-deafness-hypogonadism syndrome 'cataract-deafness-hypogonadism syndrome' SubClassOf 'syndromic intellectual disability' 'cataract-deafness-hypogonadism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'syndromic intellectual disability' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017987 syringomyelia 'syringomyelia' SubClassOf 'spinal cord disease' 'syringomyelia' SubClassOf 'spinal cord disease' http://purl.obolibrary.org/obo/MONDO_0042966 inherited mitral valve disease 'inherited mitral valve disease' SubClassOf 'mitral valve disease' 'inherited mitral valve disease' SubClassOf 'mitral valve disease' http://purl.obolibrary.org/obo/MONDO_0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015338 syndromic craniosynostosis 'syndromic craniosynostosis' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0003366 hydrarthrosis 'hydrarthrosis' SubClassOf 'joint disease' 'hydrarthrosis' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0003363 malignant dermis tumor 'malignant dermis tumor' SubClassOf 'skin cancer' 'malignant dermis tumor' SubClassOf 'skin cancer' http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency 'vitamin B deficiency' SubClassOf 'vitamin deficiency disorder' 'vitamin B deficiency' SubClassOf 'vitamin deficiency disorder' http://purl.obolibrary.org/obo/MONDO_0015342 acute transverse myelitis 'acute transverse myelitis' SubClassOf 'Myelitis' 'acute transverse myelitis' SubClassOf 'Myelitis' http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome 'hereditary neoplastic syndrome' SubClassOf 'genetic disorder' 'hereditary neoplastic syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015364 hereditary sensory and autonomic neuropathy 'hereditary sensory and autonomic neuropathy' SubClassOf 'sensory peripheral neuropathy' 'hereditary sensory and autonomic neuropathy' SubClassOf 'sensory peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_208513 Spinocerebellar ataxia type 29 'Spinocerebellar ataxia type 29' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 29' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome 'neurocutaneous syndrome' SubClassOf 'nervous system disease' 'neurocutaneous syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0015397 oculo-auriculo-vertebral spectrum 'oculo-auriculo-vertebral spectrum' SubClassOf 'syndromic disease' 'oculo-auriculo-vertebral spectrum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 'oculo-auriculo-vertebral spectrum' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_137675 Histiocytoid cardiomyopathy 'Histiocytoid cardiomyopathy' SubClassOf 'Genetic cardiac rhythm disease' 'Histiocytoid cardiomyopathy' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Histiocytoid cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_52429 Branchio-otic syndrome 'Branchio-otic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Branchio-otic syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_52427 Retinitis punctata albescens 'Retinitis punctata albescens' SubClassOf 'Familial flecked retinopathy' 'Retinitis punctata albescens' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Inclusion myopathy' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_353217 Epileptic encephalopathy with global cerebral demyelination 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Neonatal epilepsy syndrome' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Mitochondrial substrate carrier disorder' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Rare genetic epilepsy' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'perinatal disease' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Disorder of energy metabolism' http://www.orpha.net/ORDO/Orphanet_137754 Neurological conditions associated with aminoacylase 1 deficiency 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'Neurometabolic disease' 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_353220 Familial primary localized cutaneous amyloidosis 'Familial primary localized cutaneous amyloidosis' SubClassOf 'inherited epidermolysis bullosa' 'Familial primary localized cutaneous amyloidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_316244 Partial deletion of the short arm of chromosome 12 'Partial deletion of the short arm of chromosome 12' SubClassOf 'Partial deletion of chromosome 12' 'Partial deletion of the short arm of chromosome 12' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_137776 Lethal congenital contracture syndrome type 2 'Lethal congenital contracture syndrome type 2' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 2' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia 'Autosomal recessive spastic ataxia' SubClassOf 'Spastic ataxia' 'Autosomal recessive spastic ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_137783 Lethal congenital contracture syndrome type 3 'Lethal congenital contracture syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 3' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 3' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_316226 Spastic ataxia 'Spastic ataxia' SubClassOf 'Rare hereditary ataxia' 'Spastic ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_316235 Autosomal dominant spastic ataxia 'Autosomal dominant spastic ataxia' SubClassOf 'Spastic ataxia' 'Autosomal dominant spastic ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_208508 Autosomal dominant cerebellar ataxia type 2 'Autosomal dominant cerebellar ataxia type 2' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 2' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal dominant cerebellar ataxia type 2' SubClassOf 'Late-onset ataxia with dementia' 'Autosomal dominant cerebellar ataxia type 2' SubClassOf 'Rare hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_400008 Rare genetic female infertility 'Rare genetic female infertility' SubClassOf 'Genetic infertility' 'Rare genetic female infertility' SubClassOf 'has_disease_location' some 'reproductive system' 'Rare genetic female infertility' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_294415 Renal-hepatic-pancreatic dysplasia 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'Syndromic visceral malformation' 'Renal-hepatic-pancreatic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017836 erythrokeratoderma en cocardes 'erythrokeratoderma en cocardes' SubClassOf 'erythrokeratoderma' 'erythrokeratoderma en cocardes' SubClassOf 'erythrokeratoderma' http://www.orpha.net/ORDO/Orphanet_255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'Metabolic disease with intestinal involvement' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'Mitochondrial disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_280200 Microform holoprosencephaly 'Microform holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Microform holoprosencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003212 nasal cavity carcinoma 'nasal cavity carcinoma' SubClassOf 'nasal cavity cancer' 'nasal cavity carcinoma' SubClassOf 'nasal cavity cancer' http://purl.obolibrary.org/obo/MONDO_0003222 central nervous system melanocytic neoplasm 'central nervous system melanocytic neoplasm' SubClassOf 'central nervous system cancer' 'central nervous system melanocytic neoplasm' SubClassOf 'central nervous system cancer' http://www.orpha.net/ORDO/Orphanet_255210 Maternally-inherited Leigh syndrome 'Maternally-inherited Leigh syndrome' SubClassOf 'Neurometabolic disease' 'Maternally-inherited Leigh syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited Leigh syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017867 distal 17p13.1 microdeletion syndrome 'distal 17p13.1 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' 'distal 17p13.1 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'autosomal recessive disease' 'Bardet-Biedl syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Bardet-Biedl syndrome' SubClassOf 'syndromic genetic obesity' 'Bardet-Biedl syndrome' SubClassOf 'retinal ciliopathy' 'Bardet-Biedl syndrome' SubClassOf 'intestinal motility disease' 'Bardet-Biedl syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Bardet-Biedl syndrome' SubClassOf 'familial cystic renal disease' 'Bardet-Biedl syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Bardet-Biedl syndrome' SubClassOf 'nephropathy-associated ciliopathy' 'Bardet-Biedl syndrome' SubClassOf 'autosomal recessive disease' 'Bardet-Biedl syndrome' SubClassOf 'ciliopathy' 'Bardet-Biedl syndrome' SubClassOf 'has modifier' some 'rare' 'Bardet-Biedl syndrome' SubClassOf 'has modifier' some 'congenital' 'Bardet-Biedl syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_91489 Isolated congenital megalocornea 'Isolated congenital megalocornea' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated congenital megalocornea' SubClassOf 'Corneogoniodysgenesis' 'Isolated congenital megalocornea' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome 'arachnodactyly-abnormal ossification-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'arachnodactyly-abnormal ossification-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_91494 Macular coloboma - cleft palate - hallux valgus 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Orofacial clefting syndrome' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0017893 inherited acute myeloid leukemia 'inherited acute myeloid leukemia' SubClassOf 'myeloproliferative disorder' 'inherited acute myeloid leukemia' SubClassOf 'myeloid leukemia' 'inherited acute myeloid leukemia' SubClassOf 'Acute Leukemia' 'inherited acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_91495 Persistent hyperplastic primary vitreous 'Persistent hyperplastic primary vitreous' SubClassOf 'Syndromic cataract' 'Persistent hyperplastic primary vitreous' SubClassOf 'Congenital vitreoretinal dysplasia' 'Persistent hyperplastic primary vitreous' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017894 acute myeloid leukemia with CEBPA somatic mutations 'acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0015233 caudal appendage-deafness syndrome 'caudal appendage-deafness syndrome' SubClassOf 'syndromic intellectual disability' 'caudal appendage-deafness syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_91490 Isolated congenital sclerocornea 'Isolated congenital sclerocornea' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated congenital sclerocornea' SubClassOf 'Corneogoniodysgenesis' 'Isolated congenital sclerocornea' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' http://www.orpha.net/ORDO/Orphanet_91491 Congenital ectropion uveae 'Congenital ectropion uveae' SubClassOf 'Non-syndromic developmental defect of the eye' 'Congenital ectropion uveae' SubClassOf 'Iridogoniodysgenesis' 'Congenital ectropion uveae' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91498 Familial congenital palsy of trochlear nerve 'Familial congenital palsy of trochlear nerve' SubClassOf 'Congenital trochlear nerve palsy' 'Familial congenital palsy of trochlear nerve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003268 mixed glioma 'mixed glioma' SubClassOf 'glioma' 'mixed glioma' SubClassOf 'glioma' http://www.orpha.net/ORDO/Orphanet_91496 Snowflake vitreoretinal degeneration 'Snowflake vitreoretinal degeneration' SubClassOf 'Vitreoretinal degeneration' 'Snowflake vitreoretinal degeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003265 adjustment disorder 'adjustment disorder' SubClassOf 'mental or behavioural disorder' 'adjustment disorder' SubClassOf 'mental or behavioural disorder' http://purl.obolibrary.org/obo/MONDO_0003274 thoracic cancer 'thoracic cancer' SubClassOf 'cancer' 'thoracic cancer' SubClassOf 'neoplasm of thorax' 'thoracic cancer' SubClassOf 'cancer' 'thoracic cancer' SubClassOf 'neoplasm of thorax' http://purl.obolibrary.org/obo/MONDO_0003275 middle ear cancer 'middle ear cancer' SubClassOf 'malignant ear neoplasm' 'middle ear cancer' SubClassOf 'neoplasm of middle ear' 'middle ear cancer' SubClassOf 'malignant ear neoplasm' 'middle ear cancer' SubClassOf 'neoplasm of middle ear' http://purl.obolibrary.org/obo/MONDO_0003276 middle ear disorder 'middle ear disorder' SubClassOf 'auditory system disease' 'middle ear disorder' SubClassOf 'disorder of ear' 'middle ear disorder' SubClassOf 'auditory system disease' 'middle ear disorder' SubClassOf 'disorder of ear' http://purl.obolibrary.org/obo/MONDO_0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 'brachydactyly-mesomelia-intellectual disability-heart defects syndrome' SubClassOf 'syndromic intellectual disability' 'brachydactyly-mesomelia-intellectual disability-heart defects syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_399058 Alpha-B crystallin-related late-onset distal myopathy 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Alpha-crystallinopathy' 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Genetic skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0015268 medullary sponge kidney 'medullary sponge kidney' SubClassOf 'Cystic Kidney Disease' 'medullary sponge kidney' SubClassOf 'Cystic Kidney Disease' http://purl.obolibrary.org/obo/MONDO_0015280 cardiofaciocutaneous syndrome 'cardiofaciocutaneous syndrome' SubClassOf 'syndromic intellectual disability' 'cardiofaciocutaneous syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015278 familial pancreatic carcinoma 'familial pancreatic carcinoma' SubClassOf 'pancreatic carcinoma' 'familial pancreatic carcinoma' SubClassOf 'pancreatic carcinoma' http://www.orpha.net/ORDO/Orphanet_231214 Beta-thalassemia major 'Beta-thalassemia major' SubClassOf 'Beta-thalassemia' 'Beta-thalassemia major' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'inherited skin tumor' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'inherited skin tumor' http://www.orpha.net/ORDO/Orphanet_399096 Distal anoctaminopathy 'Distal anoctaminopathy' SubClassOf 'Autosomal recessive distal myopathy' 'Distal anoctaminopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_231237 Delta-beta-thalassemia 'Delta-beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Delta-beta-thalassemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231230 Beta-thalassemia associated with another hemoglobin anomaly 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'Beta-thalassemia and related diseases' 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'Thalassemia' http://www.orpha.net/ORDO/Orphanet_231226 Dominant beta-thalassemia 'Dominant beta-thalassemia' SubClassOf 'Beta-thalassemia' 'Dominant beta-thalassemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231222 Beta-thalassemia intermedia 'Beta-thalassemia intermedia' SubClassOf 'Beta-thalassemia' 'Beta-thalassemia intermedia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_399081 KLHL9-related childhood-onset distal myopathy 'KLHL9-related childhood-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' 'KLHL9-related childhood-onset distal myopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_399103 Nebulin-related early-onset distal myopathy 'Nebulin-related early-onset distal myopathy' SubClassOf 'Autosomal recessive distal myopathy' 'Nebulin-related early-onset distal myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280195 Septopreoptic holoprosencephaly 'Septopreoptic holoprosencephaly' SubClassOf 'Lobar holoprosencephaly' 'Septopreoptic holoprosencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004310 partial thromboplastin time 'partial thromboplastin time' SubClassOf ('is_about' some 'liver disease') or ('is_about' some 'Congenital factor XI deficiency') or ('is_about' some 'Congenital factor XII deficiency') or ('is_about' some 'Hemophilia') or ('is_about' some 'Von Willebrand disease') http://www.orpha.net/ORDO/Orphanet_255182 Pyruvate dehydrogenase E3-binding protein deficiency 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017909 inherited glutathione synthetase deficiency 'inherited glutathione synthetase deficiency' SubClassOf 'defective phagocytic cell engulfment' 'inherited glutathione synthetase deficiency' SubClassOf 'defective phagocytic cell engulfment' http://purl.obolibrary.org/obo/MONDO_0017910 dehydrated hereditary stomatocytosis 'dehydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' 'dehydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'syndromic intellectual disability' 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017939 classic multiminicore myopathy 'classic multiminicore myopathy' SubClassOf 'TTN-related myopathy' 'classic multiminicore myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100493 http://purl.obolibrary.org/obo/MONDO_0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 'aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_280133 Complement component 3 deficiency 'Complement component 3 deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Complement component 3 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280142 Severe combined immunodeficiency due to LCK deficiency 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231137 Silver-Russell syndrome due to 7p11.2p13 microduplication 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 7' 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'Marfan and Marfan-related disorder' 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017719 gangliosidosis 'gangliosidosis' SubClassOf 'sphingolipidosis' 'gangliosidosis' SubClassOf 'sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_91396 Isolated cryptophthalmia 'Isolated cryptophthalmia' SubClassOf 'Cryptophthalmia' 'Isolated cryptophthalmia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated cryptophthalmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004283 goiter 'goiter' SubClassOf 'thyroid disease' 'goiter' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_0004284 upper aerodigestive tract neoplasm 'upper aerodigestive tract neoplasm' SubClassOf 'neoplasm' 'upper aerodigestive tract neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0004287 ventricular fibrillation 'ventricular fibrillation' SubClassOf 'cardiac rhythm disease' 'ventricular fibrillation' SubClassOf 'cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_91397 Isolated ankyloblepharon filiforme adnatum 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Eyelid border anomaly' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004289 lymphoid leukemia 'lymphoid leukemia' SubClassOf 'leukemia' 'lymphoid leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0017728 Tay-Sachs disease, B1 variant 'Tay-Sachs disease, B1 variant' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B1 variant' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017720 GM2 gangliosidosis 'GM2 gangliosidosis' SubClassOf 'gangliosidosis' 'GM2 gangliosidosis' SubClassOf 'gangliosidosis' http://www.orpha.net/ORDO/Orphanet_231144 Silver-Russell syndrome due to 11p15 microduplication 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 11' 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Uniparental disomy of maternal origin' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017746 atypical Rett syndrome 'atypical Rett syndrome' SubClassOf 'motor stereotypies' 'atypical Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'atypical Rett syndrome' SubClassOf 'pervasive developmental disorder' 'atypical Rett syndrome' SubClassOf 'motor stereotypies' 'atypical Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'atypical Rett syndrome' SubClassOf 'pervasive developmental disorder' http://purl.obolibrary.org/obo/MONDO_0003110 skin hemangioma 'skin hemangioma' SubClassOf 'hemangioma' 'skin hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0003111 gastric neuroendocrine neoplasm 'gastric neuroendocrine neoplasm' SubClassOf 'stomach neoplasm' 'gastric neuroendocrine neoplasm' SubClassOf 'stomach neoplasm' http://purl.obolibrary.org/obo/MONDO_0017754 inborn disorder of porphyrin metabolism 'inborn disorder of porphyrin metabolism' SubClassOf 'porphyrin metabolism disease' 'inborn disorder of porphyrin metabolism' SubClassOf 'porphyrin metabolism disease' http://www.orpha.net/ORDO/Orphanet_91357 Duplication of the esophagus 'Duplication of the esophagus' SubClassOf 'Non-syndromic esophageal malformation' 'Duplication of the esophagus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91358 Congenital esophageal diverticulum 'Congenital esophageal diverticulum' SubClassOf 'Non-syndromic esophageal malformation' 'Congenital esophageal diverticulum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003125 testicular sex cord-stromal neoplasm 'testicular sex cord-stromal neoplasm' SubClassOf 'neoplasm of testis' 'testicular sex cord-stromal neoplasm' SubClassOf 'neoplasm of testis' http://www.orpha.net/ORDO/Orphanet_231160 Familial cerebral saccular aneurysm 'Familial cerebral saccular aneurysm' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial cerebral saccular aneurysm' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0017773 hypoalphalipoproteinemia 'hypoalphalipoproteinemia' SubClassOf 'metabolic disease' 'hypoalphalipoproteinemia' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_255138 Pyruvate dehydrogenase E1-beta deficiency 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91378 Hereditary angioedema 'Hereditary angioedema' SubClassOf 'genetic disorder' 'Hereditary angioedema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003143 angiokeratoma 'angiokeratoma' SubClassOf 'skin hemangioma' 'angiokeratoma' SubClassOf 'skin hemangioma' http://www.orpha.net/ORDO/Orphanet_255132 Adult-onset autosomal recessive sideroblastic anemia 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'Mitochondrial substrate carrier disorder' 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'Disorder of energy metabolism' http://purl.obolibrary.org/obo/MONDO_0015129 chronic primary adrenal insufficiency 'chronic primary adrenal insufficiency' SubClassOf 'adrenocortical insufficiency' 'chronic primary adrenal insufficiency' SubClassOf 'adrenocortical insufficiency' http://purl.obolibrary.org/obo/MONDO_0017785 PENS syndrome 'PENS syndrome' SubClassOf 'inherited skin tumor' 'PENS syndrome' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0017795 ameloblastoma 'ameloblastoma' SubClassOf 'odontogenic neoplasm' 'ameloblastoma' SubClassOf 'odontogenic neoplasm' http://purl.obolibrary.org/obo/MONDO_0017792 7p22.1 microduplication syndrome '7p22.1 microduplication syndrome' SubClassOf 'syndromic intellectual disability' '7p22.1 microduplication syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015149 pure hereditary spastic paraplegia 'pure hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' 'pure hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_399185 Rare hereditary disease with avascular necrosis 'Rare hereditary disease with avascular necrosis' SubClassOf 'Avascular necrosis of genetic origin' 'Rare hereditary disease with avascular necrosis' SubClassOf 'Rare genetic bone disease' http://purl.obolibrary.org/obo/MONDO_0003173 brain stem astrocytic neoplasm 'brain stem astrocytic neoplasm' SubClassOf 'Brain Stem Glioma' 'brain stem astrocytic neoplasm' SubClassOf 'brain astrocytoma' 'brain stem astrocytic neoplasm' SubClassOf 'Brain Stem Glioma' 'brain stem astrocytic neoplasm' SubClassOf 'brain astrocytoma' http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia 'complex hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' 'complex hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0003196 appendix carcinoma 'appendix carcinoma' SubClassOf 'appendix cancer' 'appendix carcinoma' SubClassOf 'appendix cancer' http://purl.obolibrary.org/obo/MONDO_0015194 sideroblastic anemia 'sideroblastic anemia' SubClassOf 'anemia' 'sideroblastic anemia' SubClassOf 'anemia' http://www.orpha.net/ORDO/Orphanet_231108 Familial rhabdoid tumor 'Familial rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' 'Familial rhabdoid tumor' SubClassOf 'Genetic soft tissue tumor' 'Familial rhabdoid tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363294 Genetic syndromic Pierre Robin syndrome 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Genetic syndromic Pierre Robin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006857 cerebral malaria 'cerebral malaria' SubClassOf 'malaria' 'cerebral malaria' SubClassOf 'malaria' http://www.ebi.ac.uk/efo/EFO_0004210 gallstones 'gallstones' SubClassOf 'gallbladder disease' 'gallstones' SubClassOf 'gallbladder disease' http://www.ebi.ac.uk/efo/EFO_0004211 Hypertriglyceridemia 'Hypertriglyceridemia' SubClassOf 'metabolic disease' 'Hypertriglyceridemia' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_137908 Hypotonia with lactic acidemia and hyperammonemia 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004215 anorexia nervosa 'anorexia nervosa' SubClassOf 'eating disorder' 'anorexia nervosa' SubClassOf 'eating disorder' http://www.orpha.net/ORDO/Orphanet_137905 Syndromic optic nerve hypoplasia 'Syndromic optic nerve hypoplasia' SubClassOf 'Optic neuropathy' 'Syndromic optic nerve hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101957 Pituitary deficiency 'Pituitary deficiency' SubClassOf 'Rare genetic hypothalamic or pituitary disease' 'Pituitary deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101934 Genetic cardiac rhythm disease 'Genetic cardiac rhythm disease' SubClassOf 'Rare genetic cardiac disease' 'Genetic cardiac rhythm disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004236 focal segmental glomerulosclerosis 'focal segmental glomerulosclerosis' SubClassOf 'glomerulosclerosis' 'focal segmental glomerulosclerosis' SubClassOf 'glomerulosclerosis' http://www.ebi.ac.uk/efo/EFO_0004237 Graves disease 'Graves disease' SubClassOf 'goiter' 'Graves disease' SubClassOf 'goiter' http://www.ebi.ac.uk/efo/EFO_0004238 hearing loss 'hearing loss' SubClassOf 'hearing disorder' 'hearing loss' SubClassOf 'hearing disorder' http://www.ebi.ac.uk/efo/EFO_0004225 Coronary Vasospasm 'Coronary Vasospasm' SubClassOf 'coronary artery disease' 'Coronary Vasospasm' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_0004227 Dengue Hemorrhagic Fever 'Dengue Hemorrhagic Fever' SubClassOf 'dengue disease' 'Dengue Hemorrhagic Fever' SubClassOf 'dengue disease' http://www.ebi.ac.uk/efo/EFO_0004228 drug-induced liver injury 'drug-induced liver injury' SubClassOf 'liver disease' 'drug-induced liver injury' SubClassOf 'liver disease' http://www.ebi.ac.uk/efo/EFO_0004254 membranous glomerulonephritis 'membranous glomerulonephritis' SubClassOf 'glomerulonephritis' 'membranous glomerulonephritis' SubClassOf 'glomerulonephritis' http://www.ebi.ac.uk/efo/EFO_0004252 nasopharyngeal neoplasm 'nasopharyngeal neoplasm' SubClassOf 'nasopharyngeal disorder' 'nasopharyngeal neoplasm' SubClassOf 'nasopharyngeal disorder' http://www.ebi.ac.uk/efo/EFO_0004253 nephrolithiasis 'nephrolithiasis' SubClassOf 'kidney disease' 'nephrolithiasis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0004240 heroin dependence 'heroin dependence' SubClassOf 'opioid dependence' 'heroin dependence' SubClassOf 'opioid dependence' http://www.ebi.ac.uk/efo/EFO_0004243 carcinoid tumor 'carcinoid tumor' SubClassOf 'neuroendocrine neoplasm' 'carcinoid tumor' SubClassOf 'neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease 'interstitial lung disease' SubClassOf 'lung disease' 'interstitial lung disease' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0004242 obsessive-compulsive disorder 'obsessive-compulsive disorder' SubClassOf 'anxiety disorder' 'obsessive-compulsive disorder' SubClassOf 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_0004247 mood disorder 'mood disorder' SubClassOf 'mental or behavioural disorder' 'mood disorder' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0004248 male infertility 'male infertility' SubClassOf 'male reproductive system disease' 'male infertility' SubClassOf 'male reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004249 meningococcal infection 'meningococcal infection' SubClassOf 'bacterial disease' 'meningococcal infection' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_101977 Immunodeficiency predominantly affecting antibody production 'Immunodeficiency predominantly affecting antibody production' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Immunodeficiency predominantly affecting antibody production' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome 'Lynch syndrome' SubClassOf 'autosomal dominant disease' 'Lynch syndrome' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_101972 Combined T and B cell immunodeficiency 'Combined T and B cell immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Combined T and B cell immunodeficiency' SubClassOf 'inborn errors of immunity' http://purl.obolibrary.org/obo/MONDO_0017813 van Maldergem syndrome 'van Maldergem syndrome' SubClassOf 'syndromic intellectual disability' 'van Maldergem syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004280 movement disorder 'movement disorder' SubClassOf 'nervous system disease' 'movement disorder' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0004262 panic disorder 'panic disorder' SubClassOf 'anxiety disorder' 'panic disorder' SubClassOf 'anxiety disorder' http://www.orpha.net/ORDO/Orphanet_91412 Marcus-Gunn syndrome 'Marcus-Gunn syndrome' SubClassOf 'Ptosis' 'Marcus-Gunn syndrome' SubClassOf 'Kinetic eyelid anomaly' http://www.ebi.ac.uk/efo/EFO_0004260 bone disease 'bone disease' SubClassOf 'skeletal system disease' 'bone disease' SubClassOf 'skeletal system disease' http://www.orpha.net/ORDO/Orphanet_101987 Constitutional neutropenia 'Constitutional neutropenia' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Constitutional neutropenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91413 Congenital Horner syndrome 'Congenital Horner syndrome' SubClassOf 'Ptosis' 'Congenital Horner syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004265 peripheral arterial disease 'peripheral arterial disease' SubClassOf 'arterial disorder' 'peripheral arterial disease' SubClassOf 'arterial disorder' http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency 'primary ovarian insufficiency' SubClassOf 'ovarian disease' 'primary ovarian insufficiency' SubClassOf 'ovarian disease' http://www.orpha.net/ORDO/Orphanet_91411 Congenital ptosis 'Congenital ptosis' SubClassOf 'Ptosis' 'Congenital ptosis' SubClassOf 'Kinetic eyelid anomaly' http://www.ebi.ac.uk/efo/EFO_0004263 partial epilepsy 'partial epilepsy' SubClassOf 'epilepsy' 'partial epilepsy' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_0004264 vascular disease 'vascular disease' SubClassOf 'cardiovascular disease' 'vascular disease' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis 'sclerosing cholangitis' SubClassOf 'cholangitis' 'sclerosing cholangitis' SubClassOf 'cholangitis' http://www.orpha.net/ORDO/Orphanet_91416 Isolated congenital alacrima 'Isolated congenital alacrima' SubClassOf 'Congenital alacrima' 'Isolated congenital alacrima' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_137902 Isolated optic nerve hypoplasia 'Isolated optic nerve hypoplasia' SubClassOf 'Optic neuropathy' 'Isolated optic nerve hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017606 facial nerve palsy due to herpes zoster infection 'facial nerve palsy due to herpes zoster infection' SubClassOf 'Varicella Zoster infection' 'facial nerve palsy due to herpes zoster infection' SubClassOf 'viral infection of central nervous system' 'facial nerve palsy due to herpes zoster infection' SubClassOf 'Bell's palsy' 'facial nerve palsy due to herpes zoster infection' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017611 pituitary tumor 'pituitary tumor' SubClassOf 'hypothalamic neoplasm' 'pituitary tumor' SubClassOf 'pituitary gland disease' 'pituitary tumor' SubClassOf 'hypothalamic neoplasm' 'pituitary tumor' SubClassOf 'pituitary gland disease' http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria 'familial primary hypomagnesemia with hypocalcuria' SubClassOf 'familial primary hypomagnesemia' 'familial primary hypomagnesemia with hypocalcuria' SubClassOf 'familial primary hypomagnesemia' http://purl.obolibrary.org/obo/MONDO_0017634 non-infectious anterior uveitis 'non-infectious anterior uveitis' SubClassOf 'anterior uveitis' 'non-infectious anterior uveitis' SubClassOf 'anterior uveitis' http://www.orpha.net/ORDO/Orphanet_280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Primary glomerular disease' 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280403 Familial omphalocele syndrome with facial dysmorphism 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017666 diffuse palmoplantar keratoderma 'diffuse palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' 'diffuse palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0015009 lymphatic malformation 7 'lymphatic malformation 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700080 http://purl.obolibrary.org/obo/MONDO_0017668 intellectual disability-short stature-hypertelorism syndrome 'intellectual disability-short stature-hypertelorism syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-short stature-hypertelorism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017675 punctate palmoplantar keratoderma 'punctate palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' 'punctate palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_231401 Alpha-thalassemia - myelodysplastic syndrome 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'Thalassemia' http://purl.obolibrary.org/obo/MONDO_0003049 ovarian large-cell neuroendocrine carcinoma 'ovarian large-cell neuroendocrine carcinoma' SubClassOf 'ovarian carcinoma' 'ovarian large-cell neuroendocrine carcinoma' SubClassOf 'ovarian carcinoma' http://purl.obolibrary.org/obo/MONDO_0017684 disorder of beta and omega amino acid metabolism 'disorder of beta and omega amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'disorder of beta and omega amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017682 intellectual disability-polydactyly-uncombable hair syndrome 'intellectual disability-polydactyly-uncombable hair syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-polydactyly-uncombable hair syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015039 lissencephaly with cerebellar hypoplasia type F 'lissencephaly with cerebellar hypoplasia type F' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type F' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015037 lissencephaly with cerebellar hypoplasia type D 'lissencephaly with cerebellar hypoplasia type D' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type D' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015036 lissencephaly with cerebellar hypoplasia type C 'lissencephaly with cerebellar hypoplasia type C' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type C' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015035 lissencephaly with cerebellar hypoplasia type B 'lissencephaly with cerebellar hypoplasia type B' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type B' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017691 erythrocyte galactose epimerase deficiency 'erythrocyte galactose epimerase deficiency' SubClassOf 'galactose epimerase deficiency' 'erythrocyte galactose epimerase deficiency' SubClassOf 'galactose epimerase deficiency' http://purl.obolibrary.org/obo/MONDO_0017692 generalized galactose epimerase deficiency 'generalized galactose epimerase deficiency' SubClassOf 'galactose epimerase deficiency' 'generalized galactose epimerase deficiency' SubClassOf 'galactose epimerase deficiency' http://purl.obolibrary.org/obo/MONDO_0003062 intestinal benign neoplasm 'intestinal benign neoplasm' SubClassOf 'intestinal neoplasm' 'intestinal benign neoplasm' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/MONDO_0015048 amelogenesis imperfecta type 2 'amelogenesis imperfecta type 2' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta type 2' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0015047 amelogenesis imperfecta type 1 'amelogenesis imperfecta type 1' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta type 1' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0003079 mastocytoma 'mastocytoma' SubClassOf 'Mast Cell Neoplasm' 'mastocytoma' SubClassOf 'Mast Cell Neoplasm' http://www.orpha.net/ORDO/Orphanet_42738 Severe congenital neutropenia 'Severe congenital neutropenia' SubClassOf 'Constitutional neutropenia' 'Severe congenital neutropenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015070 laryngeal neuroendocrine neoplasm 'laryngeal neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'laryngeal neuroendocrine neoplasm' SubClassOf 'laryngeal neoplasm' 'laryngeal neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'laryngeal neuroendocrine neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003090 extrahepatic bile duct carcinoma 'extrahepatic bile duct carcinoma' SubClassOf 'malignant tumor of extrahepatic bile duct' 'extrahepatic bile duct carcinoma' SubClassOf 'malignant tumor of extrahepatic bile duct' http://purl.obolibrary.org/obo/MONDO_0015084 FRAXF syndrome 'FRAXF syndrome' SubClassOf 'genetic disorder' 'FRAXF syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015094 subependymal nodular heterotopia 'subependymal nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' 'subependymal nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' http://www.orpha.net/ORDO/Orphanet_365563 Primary short bowel syndrome 'Primary short bowel syndrome' SubClassOf 'Genetic intestinal disease' 'Primary short bowel syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004533 alkaline phosphatase measurement 'alkaline phosphatase measurement' SubClassOf ('is_about' some 'Wilson disease') or ('is_about' some 'Hypophosphatasia') or ('is_about' some 'Sarcoidosis') http://www.ebi.ac.uk/efo/EFO_0004537 neonatal systemic lupus erythematosus 'neonatal systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' 'neonatal systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' http://www.orpha.net/ORDO/Orphanet_206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Disorder of purine metabolism' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206436 Infantile Krabbe disease 'Infantile Krabbe disease' SubClassOf 'Krabbe disease' 'Infantile Krabbe disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206448 Adult Krabbe disease 'Adult Krabbe disease' SubClassOf 'Krabbe disease' 'Adult Krabbe disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206443 Late-infantile/juvenile Krabbe disease 'Late-infantile/juvenile Krabbe disease' SubClassOf 'Krabbe disease' 'Late-infantile/juvenile Krabbe disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004576 fetal hemoglobin measurement 'fetal hemoglobin measurement' SubClassOf ('is_about' some 'leukemia') or ('is_about' some 'anemia (phenotype)') or ('is_about' some 'Hemoglobinopathy') http://www.ebi.ac.uk/efo/EFO_0004562 cryptorchidism 'cryptorchidism' SubClassOf 'male reproductive system disease' 'cryptorchidism' SubClassOf 'genetic disorder' 'cryptorchidism' SubClassOf 'male reproductive system disease' 'cryptorchidism' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004565 serum IgG measurement 'serum IgG measurement' SubClassOf 'is_about' some 'Common variable immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes 'gestational diabetes' SubClassOf 'diabetes mellitus' 'gestational diabetes' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_294990 Congenital absence/hypoplasia of fingers excluding thumb 'Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'Adactyly of hand' 'Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294994 Split foot 'Split foot' SubClassOf 'Split hand or/and split foot malformation' 'Split foot' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294992 Split hand 'Split hand' SubClassOf 'Split hand or/and split foot malformation' 'Split hand' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294988 Congenital absence/hypoplasia of thumb 'Congenital absence/hypoplasia of thumb' SubClassOf 'Adactyly of hand' 'Congenital absence/hypoplasia of thumb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294986 Apodia 'Apodia' SubClassOf 'Terminal limb defects' 'Apodia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294998 Brachydactyly of toes 'Brachydactyly of toes' SubClassOf 'Brachydactyly' 'Brachydactyly of toes' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_294996 Brachydactyly of fingers 'Brachydactyly of fingers' SubClassOf 'Brachydactyly' 'Brachydactyly of fingers' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_280365 Autosomal codominant severe lipodystrophic laminopathy 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'Familial partial lipodystrophy' 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'Genetic subcutaneous tissue disorder' 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'genetic lipodystrophy' http://www.orpha.net/ORDO/Orphanet_280379 Erythropoietic uroporphyria associated with myeloid malignancy 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'Porphyria' 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017709 disorder of lipid absorption and transport 'disorder of lipid absorption and transport' SubClassOf 'pancreas disease' 'disorder of lipid absorption and transport' SubClassOf 'pancreas disease' http://www.orpha.net/ORDO/Orphanet_294951 Congenital joint dislocations 'Congenital joint dislocations' SubClassOf 'Non-syndromic limb malformation' 'Congenital joint dislocations' SubClassOf 'Genetic congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_294944 Congenital deformities of limbs 'Congenital deformities of limbs' SubClassOf 'Non-syndromic limb malformation' 'Congenital deformities of limbs' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294942 Postaxial polydactyly of fingers 'Postaxial polydactyly of fingers' SubClassOf 'Polydactyly' 'Postaxial polydactyly of fingers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294947 Congenital deformities of fingers 'Congenital deformities of fingers' SubClassOf 'Congenital deformities of limbs' 'Congenital deformities of fingers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294949 Joint formation defects 'Joint formation defects' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Joint formation defects' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294953 Limb overgrowth 'Limb overgrowth' SubClassOf 'Non-syndromic limb malformation' 'Limb overgrowth' SubClassOf 'Genetic congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0005508 hereditary multiple osteochondromas 'hereditary multiple osteochondromas' SubClassOf 'bone neoplasm' 'hereditary multiple osteochondromas' SubClassOf 'bone neoplasm' http://www.orpha.net/ORDO/Orphanet_280325 Distal monosomy 12p 'Distal monosomy 12p' SubClassOf 'Partial deletion of the short arm of chromosome 12' 'Distal monosomy 12p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294973 Humeral agenesis/hypoplasia 'Humeral agenesis/hypoplasia' SubClassOf 'Non-syndromic limb reduction defect' 'Humeral agenesis/hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294971 Tetra-amelia 'Tetra-amelia' SubClassOf 'Amelia' 'Tetra-amelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294965 Lethal congenital contracture syndrome 'Lethal congenital contracture syndrome' SubClassOf 'Arthrogryposis syndrome' 'Lethal congenital contracture syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294963 Popliteal pterygium syndrome 'Popliteal pterygium syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Popliteal pterygium syndrome' SubClassOf 'Arthrogryposis syndrome' 'Popliteal pterygium syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_243343 Dimethylglycine dehydrogenase deficiency 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'Disorder of serine or glycine metabolism' 'Dimethylglycine dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294969 Amelia of lower limb 'Amelia of lower limb' SubClassOf 'Amelia' 'Amelia of lower limb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294967 Amelia of upper limb 'Amelia of upper limb' SubClassOf 'Amelia' 'Amelia of upper limb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280333 Autosomal recessive limb-girdle muscular dystrophy type 2P 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Primary qualitative or quantitative defects of alpha-dystroglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231386 Beta-thalassemia with other manifestations 'Beta-thalassemia with other manifestations' SubClassOf 'Beta-thalassemia and related diseases' 'Beta-thalassemia with other manifestations' SubClassOf 'Thalassemia' http://www.orpha.net/ORDO/Orphanet_294983 Acheiria 'Acheiria' SubClassOf 'Terminal limb defects' 'Acheiria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294981 Congenital absence of both lower leg and foot 'Congenital absence of both lower leg and foot' SubClassOf 'Terminal limb defects' 'Congenital absence of both lower leg and foot' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294977 Congenital absence of thigh and lower leg with foot present 'Congenital absence of thigh and lower leg with foot present' SubClassOf 'Intercalary limb defects' 'Congenital absence of thigh and lower leg with foot present' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294975 Congenital absence of upper arm and forearm with hand present 'Congenital absence of upper arm and forearm with hand present' SubClassOf 'Intercalary limb defects' 'Congenital absence of upper arm and forearm with hand present' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294979 Congenital absence of both forearm and hand 'Congenital absence of both forearm and hand' SubClassOf 'Terminal limb defects' 'Congenital absence of both forearm and hand' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017503 acheiria, bilateral 'acheiria, bilateral' SubClassOf 'acheiria' 'acheiria, bilateral' SubClassOf 'acheiria' http://www.orpha.net/ORDO/Orphanet_294925 Amelia 'Amelia' SubClassOf 'Non-syndromic limb reduction defect' 'Amelia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Amelia' SubClassOf 'Genetic congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_294929 Terminal limb defects 'Terminal limb defects' SubClassOf 'Non-syndromic limb reduction defect' 'Terminal limb defects' SubClassOf 'Genetic congenital limb malformation' 'Terminal limb defects' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_294927 Intercalary limb defects 'Intercalary limb defects' SubClassOf 'Non-syndromic limb reduction defect' 'Intercalary limb defects' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294931 Adactyly of hand 'Adactyly of hand' SubClassOf 'Terminal limb defects' 'Adactyly of hand' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294937 Brachydactyly 'Brachydactyly' SubClassOf 'Terminal limb defects' 'Brachydactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294935 Split hand or/and split foot malformation 'Split hand or/and split foot malformation' SubClassOf 'Terminal limb defects' 'Split hand or/and split foot malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294939 Preaxial polydactyly of fingers 'Preaxial polydactyly of fingers' SubClassOf 'Polydactyly' 'Preaxial polydactyly of fingers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0017582 pituitary adenocarcinoma 'pituitary adenocarcinoma' SubClassOf 'pituitary cancer' 'pituitary adenocarcinoma' SubClassOf 'pituitary cancer' http://www.orpha.net/ORDO/Orphanet_66630 Congenital pseudoarthrosis of clavicle 'Congenital pseudoarthrosis of clavicle' SubClassOf 'Dysostosis of genetic origin' 'Congenital pseudoarthrosis of clavicle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_66628 Obesity due to congenital leptin deficiency 'Obesity due to congenital leptin deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to congenital leptin deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to congenital leptin deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_66625 Cerebro-oculo-nasal syndrome 'Cerebro-oculo-nasal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_314051 Leukoencephalopathy - thalamus and brainstem anomalies - high lactate 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_314029 High bone mass osteogenesis imperfecta 'High bone mass osteogenesis imperfecta' SubClassOf 'Primary bone dysplasia with increased bone density' 'High bone mass osteogenesis imperfecta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_66637 Diaphanospondylodysostosis 'Diaphanospondylodysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Diaphanospondylodysostosis' SubClassOf 'Spondylodysplastic dysplasia' 'Diaphanospondylodysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_52055 Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_52054 Craniosynostosis - intracranial calcifications 'Craniosynostosis - intracranial calcifications' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - intracranial calcifications' SubClassOf 'Rare genetic bone development disorder' 'Craniosynostosis - intracranial calcifications' SubClassOf 'Rare genetic bone disease' 'Craniosynostosis - intracranial calcifications' SubClassOf 'Genetic cranial malformation' http://www.orpha.net/ORDO/Orphanet_280234 Null syndrome 'Null syndrome' SubClassOf 'Pelizaeus-Merzbacher disease' 'Null syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139373 Recessive hereditary methemoglobinemia type 1 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'Hereditary methemoglobinemia' 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'Rare constitutional anemia' http://www.orpha.net/ORDO/Orphanet_404568 Dysostosis of genetic origin 'Dysostosis of genetic origin' SubClassOf 'Rare genetic bone disease' 'Dysostosis of genetic origin' SubClassOf 'Rare genetic bone development disorder' 'Dysostosis of genetic origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_404560 Familial atypical multiple mole melanoma syndrome 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'Genetic skin tumor' 'Familial atypical multiple mole melanoma syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139380 Recessive hereditary methemoglobinemia type 2 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'Hereditary methemoglobinemia' 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'Rare constitutional anemia' http://www.orpha.net/ORDO/Orphanet_139393 Syndromic craniosynostosis 'Syndromic craniosynostosis' SubClassOf 'Craniosynostosis' 'Syndromic craniosynostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139390 Isolated craniosynostosis 'Isolated craniosynostosis' SubClassOf 'Craniosynostosis' 'Isolated craniosynostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139399 Adrenomyeloneuropathy 'Adrenomyeloneuropathy' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Adrenomyeloneuropathy' SubClassOf 'X-linked adrenoleukodystrophy' 'Adrenomyeloneuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0023297 guttate psoriasis 'guttate psoriasis' SubClassOf 'psoriasis' 'guttate psoriasis' SubClassOf 'psoriasis' http://www.orpha.net/ORDO/Orphanet_37553 Cardiodysrhythmic potassium-sensitive periodic paralysis 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'Genetic cardiac rhythm disease' 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'Rare genetic cardiac disease' http://www.orpha.net/ORDO/Orphanet_404571 Dysostosis of genetic origin with limb anomaly as a major feature 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf 'Dysostosis of genetic origin' 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf 'Rare genetic bone development disorder' 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_98518 Cranial nerve and nuclear aplasia 'Cranial nerve and nuclear aplasia' SubClassOf 'Genetic non-syndromic central nervous system malformation' 'Cranial nerve and nuclear aplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284160 8q21.11 microdeletion syndrome '8q21.11 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '8q21.11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' '8q21.11 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' '8q21.11 microdeletion syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_284169 10p11.21p12.31 microdeletion syndrome '10p11.21p12.31 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 10' '10p11.21p12.31 microdeletion syndrome' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0001903 calcific tendinitis 'calcific tendinitis' SubClassOf 'tendinitis' 'calcific tendinitis' SubClassOf 'tendinitis' http://purl.obolibrary.org/obo/MONDO_0001926 ureteral disorder 'ureteral disorder' SubClassOf 'urinary system disease' 'ureteral disorder' SubClassOf 'urinary system disease' http://www.orpha.net/ORDO/Orphanet_98584 Malignant tumor of palpebral epidermis 'Malignant tumor of palpebral epidermis' SubClassOf 'Palpebral tumor' 'Malignant tumor of palpebral epidermis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98583 Precancerous lesion of palpebral epidermis 'Precancerous lesion of palpebral epidermis' SubClassOf 'Palpebral tumor' 'Precancerous lesion of palpebral epidermis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98586 Pigmented palpebral tumor 'Pigmented palpebral tumor' SubClassOf 'Palpebral tumor' 'Pigmented palpebral tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98585 Palpebral sebaceous gland tumor 'Palpebral sebaceous gland tumor' SubClassOf 'Palpebral tumor' 'Palpebral sebaceous gland tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98588 Palpebral nevus 'Palpebral nevus' SubClassOf 'Pigmented palpebral tumor' 'Palpebral nevus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98587 Palpebral lentiginosis 'Palpebral lentiginosis' SubClassOf 'Pigmented palpebral tumor' 'Palpebral lentiginosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98589 Palpebral malignant melanoma 'Palpebral malignant melanoma' SubClassOf 'Pigmented palpebral tumor' 'Palpebral malignant melanoma' SubClassOf 'Palpebral tumor' http://purl.obolibrary.org/obo/MONDO_0001933 endocrine pancreas disorder 'endocrine pancreas disorder' SubClassOf 'pancreas disease' 'endocrine pancreas disorder' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0001938 vulvar dystrophy 'vulvar dystrophy' SubClassOf 'vulvar disease' 'vulvar dystrophy' SubClassOf 'vulvar disease' http://purl.obolibrary.org/obo/MONDO_0001941 blindness (disorder) 'blindness (disorder)' SubClassOf 'vision disorder' 'blindness (disorder)' SubClassOf 'vision disorder' http://www.orpha.net/ORDO/Orphanet_262794 Partial duplication of the short arm of chromosome 16 'Partial duplication of the short arm of chromosome 16' SubClassOf 'Partial duplication of chromosome 16' 'Partial duplication of the short arm of chromosome 16' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'encephalopathy, acute, infection-induced' 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'encephalopathy, acute, infection-induced' http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'encephalopathy, acute, infection-induced' 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'encephalopathy, acute, infection-induced' http://www.orpha.net/ORDO/Orphanet_98591 Mesenchymatous palpebral tumor 'Mesenchymatous palpebral tumor' SubClassOf 'Palpebral tumor' 'Mesenchymatous palpebral tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98590 Palpebral piliary tumor 'Palpebral piliary tumor' SubClassOf 'Palpebral tumor' 'Palpebral piliary tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98593 Neurogenic palpebral tumor 'Neurogenic palpebral tumor' SubClassOf 'Palpebral tumor' 'Neurogenic palpebral tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262785 Partial duplication of the short arm of chromosome 11 'Partial duplication of the short arm of chromosome 11' SubClassOf 'Partial duplication of chromosome 11' 'Partial duplication of the short arm of chromosome 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262767 Partial trisomy of the short arm of chromosome 9 'Partial trisomy of the short arm of chromosome 9' SubClassOf 'Partial trisomy/tetrasomy of chromosome 9' 'Partial trisomy of the short arm of chromosome 9' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 'metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'genetic disorder' 'metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800089 http://www.orpha.net/ORDO/Orphanet_262776 Partial duplication of the short arm of chromosome 10 'Partial duplication of the short arm of chromosome 10' SubClassOf 'Partial duplication of chromosome 10' 'Partial duplication of the short arm of chromosome 10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284149 Craniosynostosis and dental anomalies 'Craniosynostosis and dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Craniosynostosis and dental anomalies' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis and dental anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013959 Charcot-Marie-Tooth disease type 4F 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_98543 Metabolic disease with dementia 'Metabolic disease with dementia' SubClassOf 'Genetic dementia' 'Metabolic disease with dementia' SubClassOf 'has_disease_location' some 'brain' 'Metabolic disease with dementia' SubClassOf 'genetic nervous system disorder' 'Metabolic disease with dementia' SubClassOf 'central nervous system disease' 'Metabolic disease with dementia' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_98554 Major induction processes eye anomaly 'Major induction processes eye anomaly' SubClassOf 'Genetic developmental defect of the eye' 'Major induction processes eye anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98557 Syndromic aniridia 'Syndromic aniridia' SubClassOf 'Aniridia' 'Syndromic aniridia' SubClassOf 'Syndromic cataract' 'Syndromic aniridia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98562 Cryptophthalmia 'Cryptophthalmia' SubClassOf 'Eyelid malformation' 'Cryptophthalmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease 'inherited auditory system disease' SubClassOf 'auditory system disease' 'inherited auditory system disease' SubClassOf 'auditory system disease' http://www.orpha.net/ORDO/Orphanet_98564 Eyelid border anomaly 'Eyelid border anomaly' SubClassOf 'Eyelid malformation' 'Eyelid border anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98566 Syndromic palpebral coloboma 'Syndromic palpebral coloboma' SubClassOf 'Eyelid border anomaly' 'Syndromic palpebral coloboma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98565 Syndromic ankyloblepharon 'Syndromic ankyloblepharon' SubClassOf 'Eyelid border anomaly' 'Syndromic ankyloblepharon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98568 Congenital entropion 'Congenital entropion' SubClassOf 'Eyelids malposition disorder' 'Congenital entropion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98567 Eyelids malposition disorder 'Eyelids malposition disorder' SubClassOf 'Rare palpebral disease' 'Eyelids malposition disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98569 Secondary entropion 'Secondary entropion' SubClassOf 'Congenital entropion' 'Secondary entropion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0037937 pyrimidine metabolism disease 'pyrimidine metabolism disease' SubClassOf 'metabolic disease' 'pyrimidine metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0037939 porphyria 'porphyria' SubClassOf 'porphyrin metabolism disease' 'porphyria' SubClassOf 'porphyrin metabolism disease' http://www.orpha.net/ORDO/Orphanet_98573 Epicanthal fold 'Epicanthal fold' SubClassOf 'Canthal anomaly' 'Epicanthal fold' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98572 Canthal anomaly 'Canthal anomaly' SubClassOf 'Rare palpebral disease' 'Canthal anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98575 Telecanthus 'Telecanthus' SubClassOf 'Canthal anomaly' 'Telecanthus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98574 Syndromic epicanthus 'Syndromic epicanthus' SubClassOf 'Epicanthal fold' 'Syndromic epicanthus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011323 arhinia, choanal atresia, and microphthalmia 'arhinia, choanal atresia, and microphthalmia' SubClassOf 'genetic disorder' 'arhinia, choanal atresia, and microphthalmia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_98576 Malposition of external canthus 'Malposition of external canthus' SubClassOf 'Canthal anomaly' 'Malposition of external canthus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98578 Ptosis 'Ptosis' SubClassOf 'Kinetic eyelid anomaly' 'Ptosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247198 Progressive cerebello-cerebral atrophy 'Progressive cerebello-cerebral atrophy' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Progressive cerebello-cerebral atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98571 Secondary ectropion 'Secondary ectropion' SubClassOf 'Eyelids malposition disorder' 'Secondary ectropion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98570 Congenital ectropion 'Congenital ectropion' SubClassOf 'Eyelids malposition disorder' 'Congenital ectropion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262716 Partial duplication of the short arm of chromosome 4 'Partial duplication of the short arm of chromosome 4' SubClassOf 'Partial duplication of chromosome 4' 'Partial duplication of the short arm of chromosome 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013993 pontocerebellar hypoplasia type 7 'pontocerebellar hypoplasia type 7' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 7' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0011334 limb-mammary syndrome 'limb-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800090 http://purl.obolibrary.org/obo/MONDO_0011335 spondyloepimetaphyseal dysplasia with multiple dislocations 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800086 http://purl.obolibrary.org/obo/MONDO_0013990 pontocerebellar hypoplasia type 8 'pontocerebellar hypoplasia type 8' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 8' SubClassOf 'pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_262707 Partial duplication of the short arm of chromosome 3 'Partial duplication of the short arm of chromosome 3' SubClassOf 'Partial duplication of chromosome 3' 'Partial duplication of the short arm of chromosome 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011359 acromelic frontonasal dysostosis 'acromelic frontonasal dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://purl.obolibrary.org/obo/MONDO_0011362 myopathy, myofibrillar, 9, with early respiratory failure 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'TTN-related myopathy' 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100494 http://www.orpha.net/ORDO/Orphanet_262758 Partial duplication of the short arm of chromosome 8 'Partial duplication of the short arm of chromosome 8' SubClassOf 'Partial duplication of chromosome 8' 'Partial duplication of the short arm of chromosome 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_404521 Spinal muscular atrophy with respiratory distress type 2 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'X-linked distal hereditary motor neuropathy' 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0006101 Finger syndactyly 'Finger syndactyly' SubClassOf 'Syndactyly' 'Finger syndactyly' SubClassOf 'Genetic congenital limb malformation' 'Finger syndactyly' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_262749 Partial duplication of the short arm of chromosome 7 'Partial duplication of the short arm of chromosome 7' SubClassOf 'Partial duplication of chromosome 7' 'Partial duplication of the short arm of chromosome 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011381 dominant beta-thalassemia 'dominant beta-thalassemia' SubClassOf 'beta thalassemia' 'dominant beta-thalassemia' SubClassOf 'beta thalassemia' http://www.orpha.net/ORDO/Orphanet_262740 Partial duplication of the short arm of chromosome 6 'Partial duplication of the short arm of chromosome 6' SubClassOf 'Partial duplication of chromosome 6' 'Partial duplication of the short arm of chromosome 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011399 alpha thalassemia 'alpha thalassemia' SubClassOf 'Thalassemia' 'alpha thalassemia' SubClassOf 'Thalassemia' http://www.orpha.net/ORDO/Orphanet_262725 Partial trisomy/tetrasomy of the short arm of chromosome 5 'Partial trisomy/tetrasomy of the short arm of chromosome 5' SubClassOf 'Partial trisomy/tetrasomy of chromosome 5' 'Partial trisomy/tetrasomy of the short arm of chromosome 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011178 infantile convulsions and choreoathetosis 'infantile convulsions and choreoathetosis' SubClassOf 'paroxysmal dyskinesia' 'infantile convulsions and choreoathetosis' SubClassOf 'paroxysmal dyskinesia' http://purl.obolibrary.org/obo/MONDO_0011171 odonto-tricho-ungual-digito-palmar syndrome 'odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease 'carbohydrate metabolism disease' SubClassOf 'metabolic disease' 'carbohydrate metabolism disease' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Isolated focal palmoplantar keratoderma' 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Genetic epidermal disorder' http://purl.obolibrary.org/obo/MONDO_0011198 spondyloepimetaphyseal dysplasia, Missouri type 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'multiple metaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'spondyloepiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_331190 Immunodeficiency due to ficolin3 deficiency 'Immunodeficiency due to ficolin3 deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Immunodeficiency due to ficolin3 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_331184 Constitutional neutropenia with extra-haematopoietic manifestations 'Constitutional neutropenia with extra-haematopoietic manifestations' SubClassOf 'Constitutional neutropenia' 'Constitutional neutropenia with extra-haematopoietic manifestations' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://www.orpha.net/ORDO/Orphanet_331187 Immunodeficiency due to MASP-2 deficiency 'Immunodeficiency due to MASP-2 deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Immunodeficiency due to MASP-2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'Severe congenital neutropenia' 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_402041 Autosomal recessive distal renal tubular acidosis 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'Syndromic genetic deafness' 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'Distal renal tubular acidosis' 'Autosomal recessive distal renal tubular acidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_402075 Familial bicuspid aortic valve 'Familial bicuspid aortic valve' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Familial bicuspid aortic valve' SubClassOf 'Genetic cardiac anomaly' 'Familial bicuspid aortic valve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262682 Partial trisomy/tetrasomy of chromosome 18 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262687 Partial duplication of chromosome 19 'Partial duplication of chromosome 19' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 19' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_298644 Disorder of thiamine metabolism and transport 'Disorder of thiamine metabolism and transport' SubClassOf 'vitamin metabolic disorder' 'Disorder of thiamine metabolism and transport' SubClassOf 'participates_in' some (('thiamine metabolic process' and ('has component' some 'abnormal')) and ('vitamin transport' and ('has component' some 'abnormal'))) 'Disorder of thiamine metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of thiamine metabolism and transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013802 infantile cerebellar-retinal degeneration 'infantile cerebellar-retinal degeneration' SubClassOf 'inherited neurodegenerative disorder' 'infantile cerebellar-retinal degeneration' SubClassOf 'inherited neurodegenerative disorder' http://www.orpha.net/ORDO/Orphanet_98473 Muscular dystrophy 'Muscular dystrophy' SubClassOf 'Genetic skeletal muscle disease' 'Muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262672 Partial duplication of chromosome 16 'Partial duplication of chromosome 16' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 16' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800086 http://www.orpha.net/ORDO/Orphanet_262677 Partial duplication of chromosome 17 'Partial duplication of chromosome 17' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 17' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001829 lumbosacral plexus lesion 'lumbosacral plexus lesion' SubClassOf 'nerve plexus disease' 'lumbosacral plexus lesion' SubClassOf 'nerve plexus disease' http://purl.obolibrary.org/obo/MONDO_0001828 acquired color blindness 'acquired color blindness' SubClassOf 'color vision disorder' 'acquired color blindness' SubClassOf 'color vision disorder' http://purl.obolibrary.org/obo/MONDO_0013815 FGFR2-related bent bone dysplasia 'FGFR2-related bent bone dysplasia' SubClassOf 'bent bone dysplasia' 'FGFR2-related bent bone dysplasia' SubClassOf 'genetic disorder' 'FGFR2-related bent bone dysplasia' SubClassOf 'bent bone dysplasia' http://www.orpha.net/ORDO/Orphanet_262658 Partial trisomy/tetrasomy of the short arm of chromosome 12 'Partial trisomy/tetrasomy of the short arm of chromosome 12' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy/tetrasomy of the short arm of chromosome 12' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98486 Metabolic myopathy 'Metabolic myopathy' SubClassOf 'Non-dystrophic myopathy' 'Metabolic myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262648 Partial duplication of chromosome 10 'Partial duplication of chromosome 10' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98497 Genetic peripheral neuropathy 'Genetic peripheral neuropathy' SubClassOf 'Rare genetic neurological disorder' 'Genetic peripheral neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262653 Partial duplication of chromosome 11 'Partial duplication of chromosome 11' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001847 nuclear senile cataract 'nuclear senile cataract' SubClassOf 'senile cataract' 'nuclear senile cataract' SubClassOf 'senile cataract' http://purl.obolibrary.org/obo/MONDO_0001852 small intestine lymphoma 'small intestine lymphoma' SubClassOf 'gastrointestinal lymphoma' 'small intestine lymphoma' SubClassOf 'gastrointestinal lymphoma' http://www.orpha.net/ORDO/Orphanet_98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'Constitutional deficiency anemia' 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369840 Autosomal recessive limb-girdle muscular dystrophy type 2S 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'Rare genetic movement disorder' 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98428 Secondary polycythemia 'Secondary polycythemia' SubClassOf 'Genetic polycythemia' 'Secondary polycythemia' SubClassOf 'has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system')) 'Secondary polycythemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98434 Hereditary combined deficiency of vitamin K-dependent clotting factors 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_369837 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Slender bone dysplasia' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease 'porphyrin metabolism disease' SubClassOf 'metabolic disease' 'porphyrin metabolism disease' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'Constitutional sideroblastic anemia' 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Rare genetic neurological disorder' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'hereditary motor neuron disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_disease_location' some 'motor neuron' http://www.orpha.net/ORDO/Orphanet_262692 Partial trisomy of chromosome 20 'Partial trisomy of chromosome 20' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy of chromosome 20' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011200 torsion dystonia 7 'torsion dystonia 7' SubClassOf 'inherited dystonia' 'torsion dystonia 7' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis 'idiopathic membranous glomerulonephritis' SubClassOf 'membranous glomerulonephritis' 'idiopathic membranous glomerulonephritis' SubClassOf 'membranous glomerulonephritis' http://www.orpha.net/ORDO/Orphanet_98456 Dense granule disease 'Dense granule disease' SubClassOf 'Platelet storage pool disease' 'Dense granule disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98455 Alpha granule disease 'Alpha granule disease' SubClassOf 'Platelet storage pool disease' 'Alpha granule disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262698 Partial duplication of the short arm of chromosome 2 'Partial duplication of the short arm of chromosome 2' SubClassOf 'Partial duplication of chromosome 2' 'Partial duplication of the short arm of chromosome 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001898 optic choroid disorder 'optic choroid disorder' SubClassOf 'uveal disorder' 'optic choroid disorder' SubClassOf 'uveal disorder' http://purl.obolibrary.org/obo/MONDO_0011217 desmosterolosis 'desmosterolosis' SubClassOf 'neonatal osteosclerotic dysplasia' 'desmosterolosis' SubClassOf 'neonatal osteosclerotic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011219 Fried's tooth and nail syndrome 'Fried's tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Fried's tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0013873 IMAGe syndrome 'IMAGe syndrome' SubClassOf 'genetic disorder' 'IMAGe syndrome' SubClassOf 'syndromic disease' 'IMAGe syndrome' SubClassOf 'has modifier' some 'rare' 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800063 'IMAGe syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011211 axial spondylometaphyseal dysplasia 'axial spondylometaphyseal dysplasia' SubClassOf 'short rib dysplasia' http://purl.obolibrary.org/obo/MONDO_0013870 TMEM165-CDG 'TMEM165-CDG' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome 'Pierpont syndrome' SubClassOf 'syndromic intellectual disability' 'Pierpont syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011215 osteocraniostenosis 'osteocraniostenosis' SubClassOf 'genetic disorder' 'osteocraniostenosis' SubClassOf 'slender bone dysplasia' 'osteocraniostenosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800063 http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf '3-methylglutaconic aciduria' http://www.orpha.net/ORDO/Orphanet_211017 Spinocerebellar ataxia type 30 'Spinocerebellar ataxia type 30' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 30' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800095 http://purl.obolibrary.org/obo/MONDO_0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 'short stature-optic atrophy-Pelger-HuC+t anomaly syndrome' SubClassOf 'genetic disorder' 'short stature-optic atrophy-Pelger-HuC+t anomaly syndrome' SubClassOf 'disorder of development or morphogenesis' 'short stature-optic atrophy-Pelger-HuC+t anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800064 http://purl.obolibrary.org/obo/MONDO_0013885 Malan overgrowth syndrome 'Malan overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 http://www.orpha.net/ORDO/Orphanet_331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' SubClassOf 'inborn errors of immunity' http://www.orpha.net/ORDO/Orphanet_331244 Other immunodeficiency syndrome with predominantly antibody defects 'Other immunodeficiency syndrome with predominantly antibody defects' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Other immunodeficiency syndrome with predominantly antibody defects' SubClassOf 'inborn errors of immunity' http://purl.obolibrary.org/obo/MONDO_0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 'short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013898 karyomegalic interstitial nephritis 'karyomegalic interstitial nephritis' SubClassOf 'familial cystic renal disease' http://www.orpha.net/ORDO/Orphanet_211037 Autosomal dominant proximal spinal muscular atrophy 'Autosomal dominant proximal spinal muscular atrophy' SubClassOf 'Genetic motor neuron disease' 'Autosomal dominant proximal spinal muscular atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013891 amyotrophic lateral sclerosis type 18 'amyotrophic lateral sclerosis type 18' SubClassOf 'familial amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis type 18' SubClassOf 'familial amyotrophic lateral sclerosis' http://www.orpha.net/ORDO/Orphanet_331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' SubClassOf 'inborn errors of immunity' http://purl.obolibrary.org/obo/MONDO_0037858 inherited fatty acid metabolism disorder 'inherited fatty acid metabolism disorder' SubClassOf 'inherited organic acidemia' 'inherited fatty acid metabolism disorder' SubClassOf 'inherited organic acidemia' http://www.orpha.net/ORDO/Orphanet_331235 Selective IgM deficiency 'Selective IgM deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Selective IgM deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011242 Bartter disease type 4a 'Bartter disease type 4a' SubClassOf 'infantile Bartter syndrome with sensorineural deafness' 'Bartter disease type 4a' SubClassOf 'infantile Bartter syndrome with sensorineural deafness' http://purl.obolibrary.org/obo/MONDO_0011244 Marshall-Smith syndrome 'Marshall-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 http://purl.obolibrary.org/obo/MONDO_0023243 glass-chapman-hockley syndrome 'glass-chapman-hockley syndrome' SubClassOf 'autosomal dominant disease' 'glass-chapman-hockley syndrome' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_331223 Hyper-IgE syndrome 'Hyper-IgE syndrome' SubClassOf 'immunodeficiency disease' 'Hyper-IgE syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262638 Partial duplication of chromosome 8 'Partial duplication of chromosome 8' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011252 spondyloepimetaphyseal dysplasia, Shohat type 'spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'spondyloepiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_262643 Partial trisomy/tetrasomy of chromosome 9 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262628 Partial duplication of chromosome 6 'Partial duplication of chromosome 6' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262633 Partial duplication of chromosome 7 'Partial duplication of chromosome 7' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 'spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability' SubClassOf 'genetic otorhinolaryngologic disease' 'spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011275 acromesomelic dysplasia 1, Maroteaux type 'acromesomelic dysplasia 1, Maroteaux type' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 1, Maroteaux type' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011274 Muenke syndrome 'Muenke syndrome' SubClassOf 'syndromic craniosynostosis' 'Muenke syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011273 H syndrome 'H syndrome' SubClassOf 'type 1 diabetes mellitus' 'H syndrome' SubClassOf 'autoimmune disorder of the nervous system' 'H syndrome' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_211062 Hereditary episodic ataxia 'Hereditary episodic ataxia' SubClassOf 'Rare hereditary ataxia' 'Hereditary episodic ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011287 craniosynostosis-anal anomalies-porokeratosis syndrome 'craniosynostosis-anal anomalies-porokeratosis syndrome' SubClassOf 'primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_211067 Episodic ataxia type 5 'Episodic ataxia type 5' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011053 intellectual disability-sparse hair-brachydactyly syndrome 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0008521 rhinitis 'rhinitis' SubClassOf 'nasal cavity disorder' 'rhinitis' SubClassOf 'nasal cavity disorder' http://www.ebi.ac.uk/efo/EFO_0008526 status epilepticus 'status epilepticus' SubClassOf 'epilepsy' 'status epilepticus' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0011066 Charcot-Marie-Tooth disease type 4B1 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_35107 Desmosterolosis 'Desmosterolosis' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Desmosterolosis' SubClassOf 'Sterol biosynthesis disorder' 'Desmosterolosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008545 Malignant Breast Phyllodes Tumor 'Malignant Breast Phyllodes Tumor' SubClassOf 'breast phyllodes tumor' 'Malignant Breast Phyllodes Tumor' SubClassOf 'breast cancer' 'Malignant Breast Phyllodes Tumor' SubClassOf 'breast phyllodes tumor' 'Malignant Breast Phyllodes Tumor' SubClassOf 'breast cancer' http://purl.obolibrary.org/obo/MONDO_0011083 trichodental syndrome 'trichodental syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'trichodental syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011085 Charcot-Marie-Tooth disease type 4D 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.ebi.ac.uk/efo/EFO_0008571 viral conjunctivitis 'viral conjunctivitis' SubClassOf 'conjunctivitis' 'viral conjunctivitis' SubClassOf 'conjunctivitis' http://www.orpha.net/ORDO/Orphanet_35122 Congenital sucrase-isomaltase deficiency 'Congenital sucrase-isomaltase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'malabsorption syndrome' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Congenital sucrase-isomaltase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008573 alcoholic liver disease 'alcoholic liver disease' SubClassOf 'alcohol-induced disorders' 'alcoholic liver disease' SubClassOf 'liver disease' 'alcoholic liver disease' SubClassOf 'alcohol-induced disorders' 'alcoholic liver disease' SubClassOf 'liver disease' http://www.orpha.net/ORDO/Orphanet_35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35125 Epidermal nevus syndrome 'Epidermal nevus syndrome' SubClassOf 'inherited ichthyosis syndromic form' 'Epidermal nevus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011099 human HOXA1 syndromes 'human HOXA1 syndromes' SubClassOf 'autosomal recessive disease' 'human HOXA1 syndromes' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_139578 Hereditary sensory and autonomic neuropathy with spastic paraplegia 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008581 salivary gland disease 'salivary gland disease' SubClassOf 'mouth disease' 'salivary gland disease' SubClassOf 'mouth disease' http://www.orpha.net/ORDO/Orphanet_139573 Hereditary sensory and autonomic neuropathy with deafness and global delay 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139589 Distal hereditary motor neuropathy type 7 'Distal hereditary motor neuropathy type 7' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139583 X-linked hereditary sensory and autonomic neuropathy with deafness 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0008583 acute myocardial infarction 'acute myocardial infarction' SubClassOf 'myocardial infarction' 'acute myocardial infarction' SubClassOf 'myocardial infarction' http://www.orpha.net/ORDO/Orphanet_59135 Laing early-onset distal myopathy 'Laing early-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Laing early-onset distal myopathy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'Laing early-onset distal myopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_139536 Distal hereditary motor neuropathy type 5 'Distal hereditary motor neuropathy type 5' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 5' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_47159 Proximal renal tubular acidosis 'Proximal renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' 'Proximal renal tubular acidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139547 Distal spinal muscular atrophy type 3 'Distal spinal muscular atrophy type 3' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' 'Distal spinal muscular atrophy type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98755 Spinocerebellar ataxia type 1 'Spinocerebellar ataxia type 1' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 1' SubClassOf 'Huntington disease-like syndrome' 'Spinocerebellar ataxia type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98756 Spinocerebellar ataxia type 2 'Spinocerebellar ataxia type 2' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 2' SubClassOf 'Huntington disease-like syndrome' 'Spinocerebellar ataxia type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98759 Spinocerebellar ataxia type 17 'Spinocerebellar ataxia type 17' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Spinocerebellar ataxia type 17' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 17' SubClassOf 'Huntington disease-like syndrome' 'Spinocerebellar ataxia type 17' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98758 Spinocerebellar ataxia type 6 'Spinocerebellar ataxia type 6' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98760 Spinocerebellar ataxia type 8 'Spinocerebellar ataxia type 8' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98762 Spinocerebellar ataxia type 12 'Spinocerebellar ataxia type 12' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 12' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96100 Distal trisomy 8q 'Distal trisomy 8q' SubClassOf 'Partial duplication of the long arm of chromosome 8' 'Distal trisomy 8q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98761 Spinocerebellar ataxia type 10 'Spinocerebellar ataxia type 10' SubClassOf 'Autosomal dominant cerebellar ataxia type 4' 'Spinocerebellar ataxia type 10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96101 Distal trisomy 9q 'Distal trisomy 9q' SubClassOf 'Partial trisomy of the long arm of chromosome 9' 'Distal trisomy 9q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98764 Spinocerebellar ataxia type 27 'Spinocerebellar ataxia type 27' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 27' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96102 Distal trisomy 10q 'Distal trisomy 10q' SubClassOf 'Partial duplication of the long arm of chromosome 10' 'Distal trisomy 10q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98763 Spinocerebellar ataxia type 14 'Spinocerebellar ataxia type 14' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96103 Distal trisomy 11q 'Distal trisomy 11q' SubClassOf 'Partial duplication of the long arm of chromosome 11' 'Distal trisomy 11q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98766 Spinocerebellar ataxia type 5 'Spinocerebellar ataxia type 5' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98765 Spinocerebellar ataxia type 4 'Spinocerebellar ataxia type 4' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35173 X-linked dominant chondrodysplasia punctata 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Sterol biosynthesis disorder' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Primary bone dysplasia' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Disorder of lipid metabolism' http://www.orpha.net/ORDO/Orphanet_96105 Distal trisomy 13q 'Distal trisomy 13q' SubClassOf 'Partial duplication of the long arm of chromosome 13' 'Distal trisomy 13q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98768 Spinocerebellar ataxia type 13 'Spinocerebellar ataxia type 13' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 13' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96106 Distal trisomy 16q 'Distal trisomy 16q' SubClassOf 'Partial trisomy of the long arm of chromosome 16' 'Distal trisomy 16q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98767 Spinocerebellar ataxia type 11 'Spinocerebellar ataxia type 11' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96107 Distal trisomy 20q 'Distal trisomy 20q' SubClassOf 'Partial trisomy of the long arm of chromosome 20' 'Distal trisomy 20q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98769 Spinocerebellar ataxia type 15/16 'Spinocerebellar ataxia type 15/16' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 15/16' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96109 Distal trisomy 22q 'Distal trisomy 22q' SubClassOf 'Partial duplication of the long arm of chromosome 22' 'Distal trisomy 22q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98771 Spinocerebellar ataxia type 18 'Spinocerebellar ataxia type 18' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 18' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98773 Spinocerebellar ataxia type 21 'Spinocerebellar ataxia type 21' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 21' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98772 Spinocerebellar ataxia type 19/22 'Spinocerebellar ataxia type 19/22' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 19/22' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96112 Non-distal trisomy 9q 'Non-distal trisomy 9q' SubClassOf 'Partial trisomy of the long arm of chromosome 9' 'Non-distal trisomy 9q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139564 Hereditary sensory and autonomic neuropathy type 1B 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_84132 Desmin-related myopathy with Mallory body-like inclusions 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'Inclusion myopathy' 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'Qualitative or quantitative defects of desmin' 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86789 Patella aplasia/hypoplasia 'Patella aplasia/hypoplasia' SubClassOf 'Non-syndromic limb malformation' 'Patella aplasia/hypoplasia' SubClassOf 'Patellar dysostosis' 'Patella aplasia/hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98706 Oculocutaneous or ocular albinism 'Oculocutaneous or ocular albinism' SubClassOf 'Pigmentation disorder with eye involvement' 'Oculocutaneous or ocular albinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139518 Distal hereditary motor neuropathy type 1 'Distal hereditary motor neuropathy type 1' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 1' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_139512 Neuropathy with hearing impairment 'Neuropathy with hearing impairment' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Neuropathy with hearing impairment' SubClassOf 'Syndromic genetic deafness' 'Neuropathy with hearing impairment' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139525 Distal hereditary motor neuropathy type 2 'Distal hereditary motor neuropathy type 2' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308520 Glycogen storage disease due to glycogen synthase deficiency 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_96164 Non-distal monosomy 20q 'Non-distal monosomy 20q' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Non-distal monosomy 20q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96167 Recombinant 8 syndrome 'Recombinant 8 syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Recombinant 8 syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96168 Monosomy 13q34 'Monosomy 13q34' SubClassOf 'Partial deletion of the long arm of chromosome 13' 'Monosomy 13q34' SubClassOf 'Syndromic anorectal malformation' 'Monosomy 13q34' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96169 Koolen-De Vries syndrome 'Koolen-De Vries syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Koolen-De Vries syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96160 Non-distal monosomy 12q 'Non-distal monosomy 12q' SubClassOf 'Partial deletion of the long arm of chromosome 12' 'Non-distal monosomy 12q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2001 Cleft lip/palate - intestinal malrotation - cardiopathy 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0001700 megaloblastic anemia 'megaloblastic anemia' SubClassOf 'macrocytic anemia' 'megaloblastic anemia' SubClassOf 'macrocytic anemia' http://www.orpha.net/ORDO/Orphanet_2008 Acro-cardio-facial syndrome 'Acro-cardio-facial syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acro-cardio-facial syndrome' SubClassOf 'Orofacial clefting syndrome' 'Acro-cardio-facial syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2007 Alar cartilages hypoplasia - coloboma - telecanthus 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2003 Cleft lip/palate - deafness - sacral lipoma 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_96175 Ring chromosome 11 'Ring chromosome 11' SubClassOf 'Ring chromosome' 'Ring chromosome 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96176 Ring chromosome 13 'Ring chromosome 13' SubClassOf 'Syndromic anorectal malformation' 'Ring chromosome 13' SubClassOf 'Ring chromosome' 'Ring chromosome 13' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96177 Ring chromosome 15 'Ring chromosome 15' SubClassOf 'Ring chromosome' 'Ring chromosome 15' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96178 Ring chromosome 16 'Ring chromosome 16' SubClassOf 'Ring chromosome' 'Ring chromosome 16' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96179 Maternal uniparental disomy of chromosome 2 'Maternal uniparental disomy of chromosome 2' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96171 Ring chromosome 2 'Ring chromosome 2' SubClassOf 'Ring chromosome' 'Ring chromosome 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96172 Ring chromosome 3 'Ring chromosome 3' SubClassOf 'Ring chromosome' 'Ring chromosome 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96173 Ring chromosome 9 'Ring chromosome 9' SubClassOf 'Ring chromosome' 'Ring chromosome 9' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2013 Cleft palate - large ears - small head 'Cleft palate - large ears - small head' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate - large ears - small head' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2019 Femur-fibula-ulna complex 'Femur-fibula-ulna complex' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Femur-fibula-ulna complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2016 Cleft palate-lateral synechia syndrome 'Cleft palate-lateral synechia syndrome' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate-lateral synechia syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cleft palate-lateral synechia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2015 Cleft palate - short stature - vertebral anomalies 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_96185 Maternal uniparental disomy of chromosome 16 'Maternal uniparental disomy of chromosome 16' SubClassOf 'Syndromic anorectal malformation' 'Maternal uniparental disomy of chromosome 16' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 16' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96186 Maternal uniparental disomy of chromosome 20 'Maternal uniparental disomy of chromosome 20' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 20' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96187 Maternal uniparental disomy of chromosome 21 'Maternal uniparental disomy of chromosome 21' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 21' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96188 Maternal uniparental disomy of chromosome 22 'Maternal uniparental disomy of chromosome 22' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 22' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001713 inherited aplastic anemia 'inherited aplastic anemia' SubClassOf 'aplastic anemia' 'inherited aplastic anemia' SubClassOf 'aplastic anemia' http://www.orpha.net/ORDO/Orphanet_96180 Maternal uniparental disomy of chromosome 4 'Maternal uniparental disomy of chromosome 4' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96181 Maternal uniparental disomy of chromosome 6 'Maternal uniparental disomy of chromosome 6' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001718 scleritis 'scleritis' SubClassOf 'scleral disorder' 'scleritis' SubClassOf 'scleral disorder' http://www.orpha.net/ORDO/Orphanet_96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Uniparental disomy of maternal origin' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96183 Maternal uniparental disomy of chromosome 9 'Maternal uniparental disomy of chromosome 9' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 9' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96184 Maternal uniparental disomy of chromosome 14 'Maternal uniparental disomy of chromosome 14' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 14' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' 'Maternal uniparental disomy of chromosome 14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2024 Hereditary gingival fibromatosis 'Hereditary gingival fibromatosis' SubClassOf 'Rare odontal or periodontal disorder' 'Hereditary gingival fibromatosis' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Hereditary gingival fibromatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2021 Fibrochondrogenesis 'Fibrochondrogenesis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Fibrochondrogenesis' SubClassOf 'Type 11 collagen-related bone disorder' 'Fibrochondrogenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2020 Congenital fiber-type disproportion myopathy 'Congenital fiber-type disproportion myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Congenital fiber-type disproportion myopathy' SubClassOf 'Congenital myopathy' 'Congenital fiber-type disproportion myopathy' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Congenital fiber-type disproportion myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Congenital fiber-type disproportion myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2029 Multiple non-ossifying fibromatosis 'Multiple non-ossifying fibromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Multiple non-ossifying fibromatosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2028 Juvenile hyaline fibromatosis 'Juvenile hyaline fibromatosis' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Juvenile hyaline fibromatosis' SubClassOf 'Primary osteolysis' 'Juvenile hyaline fibromatosis' SubClassOf 'inherited epidermolysis bullosa' 'Juvenile hyaline fibromatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2026 Gingival fibromatosis-hypertrichosis syndrome 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Hypertrichosis' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2025 Gingival fibromatosis - facial dysmorphism 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0001724 supraglottis cancer 'supraglottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' 'supraglottis cancer' SubClassOf 'supraglottis neoplasm' 'supraglottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' 'supraglottis cancer' SubClassOf 'supraglottis neoplasm' http://www.orpha.net/ORDO/Orphanet_96190 Paternal uniparental disomy of chromosome 5 'Paternal uniparental disomy of chromosome 5' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96191 Paternal uniparental disomy of chromosome 6 'Paternal uniparental disomy of chromosome 6' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284385 Familial intrahepatic cholestasis 'Familial intrahepatic cholestasis' SubClassOf 'Rare metabolic liver disease' 'Familial intrahepatic cholestasis' SubClassOf 'genetic biliary tract disease' 'Familial intrahepatic cholestasis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96192 Paternal uniparental disomy of chromosome 7 'Paternal uniparental disomy of chromosome 7' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96194 Paternal uniparental disomy of chromosome 20 'Paternal uniparental disomy of chromosome 20' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 20' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96195 Paternal uniparental disomy of chromosome 21 'Paternal uniparental disomy of chromosome 21' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 21' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001730 urethral syndrome 'urethral syndrome' SubClassOf 'urethral disease' 'urethral syndrome' SubClassOf 'urethral disease' http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'Familial partial epilepsy' 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96123 Monosomy 22 'Monosomy 22' SubClassOf 'Total autosomal monosomy' 'Monosomy 22' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96126 Distal monosomy 7p 'Distal monosomy 7p' SubClassOf 'Partial deletion of the short arm of chromosome 7' 'Distal monosomy 7p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis 'tuberous sclerosis' SubClassOf 'neurocutaneous syndrome' 'tuberous sclerosis' SubClassOf 'neurocutaneous syndrome' http://www.orpha.net/ORDO/Orphanet_101009 Autosomal dominant spastic paraplegia type 29 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_101007 Autosomal recessive spastic paraplegia type 27 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_101008 Autosomal recessive spastic paraplegia type 28 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'Autosomal recessive pure spastic paraplegia' 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0001744 angle-closure glaucoma 'angle-closure glaucoma' SubClassOf 'glaucoma' 'angle-closure glaucoma' SubClassOf 'glaucoma' http://www.orpha.net/ORDO/Orphanet_101005 Autosomal recessive spastic paraplegia type 25 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_101006 Autosomal recessive spastic paraplegia type 26 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_101003 Autosomal recessive spastic paraplegia type 23 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_101004 Autosomal recessive spastic paraplegia type 24 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_96129 Distal monosomy 19p13.3 'Distal monosomy 19p13.3' SubClassOf 'Partial deletion of the short arm of chromosome 19' 'Distal monosomy 19p13.3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98797 Isochromosomy Yp 'Isochromosomy Yp' SubClassOf 'Isochromosome Y' 'Isochromosomy Yp' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96136 Non-distal monosomy 7p 'Non-distal monosomy 7p' SubClassOf 'Partial deletion of the short arm of chromosome 7' 'Non-distal monosomy 7p' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_98798 Isochromosomy Yq 'Isochromosomy Yq' SubClassOf 'Isochromosome Y' 'Isochromosomy Yq' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001748 maxillary sinus carcinoma 'maxillary sinus carcinoma' SubClassOf 'maxillary sinus neoplasm' 'maxillary sinus carcinoma' SubClassOf 'maxillary sinus neoplasm' http://www.orpha.net/ORDO/Orphanet_284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'Early-onset ataxia with dementia' 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'Rare hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_98791 Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Thalassemia' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0001751 cholestasis 'cholestasis' SubClassOf 'bile duct disorder' 'cholestasis' SubClassOf 'bile duct disorder' http://purl.obolibrary.org/obo/MONDO_0013730 graft versus host disease 'graft versus host disease' SubClassOf 'immune system disease' 'graft versus host disease' SubClassOf 'immune system disease' http://www.orpha.net/ORDO/Orphanet_96145 Distal monosomy 4q 'Distal monosomy 4q' SubClassOf 'Partial deletion of the long arm of chromosome 4' 'Distal monosomy 4q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001764 ethmoidal sinus neoplasm 'ethmoidal sinus neoplasm' SubClassOf 'paranasal sinus neoplasm' 'ethmoidal sinus neoplasm' SubClassOf 'paranasal sinus neoplasm' http://purl.obolibrary.org/obo/MONDO_0001763 ethmoid sinus cancer 'ethmoid sinus cancer' SubClassOf 'ethmoidal sinus neoplasm' 'ethmoid sinus cancer' SubClassOf 'ethmoidal sinus neoplasm' http://www.orpha.net/ORDO/Orphanet_284339 Pontocerebellar hypoplasia type 7 'Pontocerebellar hypoplasia type 7' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96149 Distal monosomy 12q 'Distal monosomy 12q' SubClassOf 'Partial deletion of the long arm of chromosome 12' 'Distal monosomy 12q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96152 Distal monosomy 20q 'Distal monosomy 20q' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Distal monosomy 20q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96150 Distal monosomy 14q 'Distal monosomy 14q' SubClassOf 'Partial deletion of the long arm of chromosome 14' 'Distal monosomy 14q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001770 gastrin secretion abnormality 'gastrin secretion abnormality' SubClassOf 'endocrine pancreas disorder' 'gastrin secretion abnormality' SubClassOf 'endocrine pancreas disorder' http://www.orpha.net/ORDO/Orphanet_250972 Polymicrogyria with optic nerve hypoplasia 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Syndromic optic nerve hypoplasia' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Cerebral malformation with epilepsy' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262959 Partial trisomy of the long arm of chromosome 16 'Partial trisomy of the long arm of chromosome 16' SubClassOf 'Partial duplication of chromosome 16' 'Partial trisomy of the long arm of chromosome 16' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_250984 Autosomal recessive Stickler syndrome 'Autosomal recessive Stickler syndrome' SubClassOf 'Stickler syndrome' 'Autosomal recessive Stickler syndrome' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Autosomal recessive Stickler syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension 'malignant secondary hypertension' SubClassOf 'malignant hypertension' 'malignant secondary hypertension' SubClassOf 'secondary hypertension' 'malignant secondary hypertension' SubClassOf 'malignant hypertension' 'malignant secondary hypertension' SubClassOf 'secondary hypertension' http://purl.obolibrary.org/obo/MONDO_0011108 Stüve-Wiedemann syndrome 'Stüve-Wiedemann syndrome' SubClassOf 'bent bone dysplasia' 'Stüve-Wiedemann syndrome' SubClassOf 'Schwartz-Jampel syndrome' 'Stüve-Wiedemann syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262950 Partial duplication of the long arm of chromosome 15 'Partial duplication of the long arm of chromosome 15' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of the long arm of chromosome 15' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001798 hypermobility syndrome 'hypermobility syndrome' SubClassOf 'joint disease' 'hypermobility syndrome' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0011113 Charcot-Marie-Tooth disease type 4C 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_262941 Partial duplication of the long arm of chromosome 14 'Partial duplication of the long arm of chromosome 14' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of the long arm of chromosome 14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262923 Partial duplication of the long arm of chromosome 11 'Partial duplication of the long arm of chromosome 11' SubClassOf 'Partial duplication of chromosome 11' 'Partial duplication of the long arm of chromosome 11' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 'T-cell immunodeficiency, congenital alopecia, and nail dystrophy' SubClassOf 'severe combined immunodeficiency' 'T-cell immunodeficiency, congenital alopecia, and nail dystrophy' SubClassOf 'severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011136 Quebec platelet disorder 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_50809 Talo-patello-scaphoid osteolysis 'Talo-patello-scaphoid osteolysis' SubClassOf 'Primary osteolysis' 'Talo-patello-scaphoid osteolysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262986 Partial duplication of the long arm of chromosome 19 'Partial duplication of the long arm of chromosome 19' SubClassOf 'Partial duplication of chromosome 19' 'Partial duplication of the long arm of chromosome 19' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0011147 chromosome 18q deletion syndrome 'chromosome 18q deletion syndrome' SubClassOf 'syndromic disease' 'chromosome 18q deletion syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_262995 Partial trisomy of the long arm of chromosome 20 'Partial trisomy of the long arm of chromosome 20' SubClassOf 'Partial trisomy of chromosome 20' 'Partial trisomy of the long arm of chromosome 20' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247378 Autosomal recessive secondary polycythemia not associated with VHL gene 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'Congenital secondary polycythemia' 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_49827 Thiamine-responsive megaloblastic anemia syndrome 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Syndromic genetic deafness' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Disorder of thiamine metabolism and transport' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Constitutional sideroblastic anemia' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008511 metopic craniosynostosis 'metopic craniosynostosis' SubClassOf 'Craniosynostosis' 'metopic craniosynostosis' SubClassOf 'Genetic cranial malformation' 'metopic craniosynostosis' SubClassOf 'Rare genetic bone development disorder' 'metopic craniosynostosis' SubClassOf 'Rare genetic bone disease' http://purl.obolibrary.org/obo/MONDO_0023149 infection due to clostridium perfringens 'infection due to clostridium perfringens' SubClassOf 'commensal Clostridium infectious disease' 'infection due to clostridium perfringens' SubClassOf 'commensal Clostridium infectious disease' http://www.orpha.net/ORDO/Orphanet_250994 1q21.1 microduplication syndrome '1q21.1 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 1' '1q21.1 microduplication syndrome' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.ebi.ac.uk/efo/EFO_0008518 polymyalgia rheumatica 'polymyalgia rheumatica' SubClassOf 'rheumatic disease' 'polymyalgia rheumatica' SubClassOf 'rheumatic disease' http://www.ebi.ac.uk/efo/EFO_0008519 primary hyperparathyroidism 'primary hyperparathyroidism' SubClassOf 'hyperparathyroidism' 'primary hyperparathyroidism' SubClassOf 'hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_262977 Partial trisomy of the long arm of chromosome 18 'Partial trisomy of the long arm of chromosome 18' SubClassOf 'Partial trisomy/tetrasomy of chromosome 18' 'Partial trisomy of the long arm of chromosome 18' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008514 neurofibromatosis 'neurofibromatosis' SubClassOf 'neurocutaneous syndrome' 'neurofibromatosis' SubClassOf 'hereditary neoplastic syndrome' 'neurofibromatosis' SubClassOf 'hereditary neoplastic syndrome' 'neurofibromatosis' SubClassOf 'neurocutaneous syndrome' http://www.ebi.ac.uk/efo/EFO_0008516 non-functioning pituitary adenoma 'non-functioning pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' 'non-functioning pituitary adenoma' SubClassOf 'non-functioning pituitary gland neoplasm' 'non-functioning pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' 'non-functioning pituitary adenoma' SubClassOf 'non-functioning pituitary gland neoplasm' http://www.orpha.net/ORDO/Orphanet_260305 Autosomal recessive sideroblastic anemia 'Autosomal recessive sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'Autosomal recessive sideroblastic anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308552 Glycogen storage disease due to acid maltase deficiency, infantile onset 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'Glycogen storage disease due to acid maltase deficiency' 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008506 hyperparathyroidism 'hyperparathyroidism' SubClassOf 'parathyroid disease' 'hyperparathyroidism' SubClassOf 'parathyroid disease' http://www.ebi.ac.uk/efo/EFO_0008507 interstitial cystitis 'interstitial cystitis' SubClassOf 'chronic cystitis' 'interstitial cystitis' SubClassOf 'connective tissue disease' 'interstitial cystitis' SubClassOf 'chronic cystitis' 'interstitial cystitis' SubClassOf 'connective tissue disease' http://www.orpha.net/ORDO/Orphanet_262968 Partial duplication of the long arm of chromosome 17 'Partial duplication of the long arm of chromosome 17' SubClassOf 'Partial duplication of chromosome 17' 'Partial duplication of the long arm of chromosome 17' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139491 Hemochromatosis type 4 'Hemochromatosis type 4' SubClassOf 'Rare hereditary hemochromatosis' 'Hemochromatosis type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140481 Autosomal dominant slowed nerve conduction velocity 'Autosomal dominant slowed nerve conduction velocity' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Autosomal dominant slowed nerve conduction velocity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_404448 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_404443 Tall stature-intellectual disability-facial dysmorphism syndrome 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013598 myostatin-related muscle hypertrophy 'myostatin-related muscle hypertrophy' SubClassOf 'genetic disorder' 'myostatin-related muscle hypertrophy' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008407 susceptibility to Mycobacterium tuberculosis infection measurement 'susceptibility to Mycobacterium tuberculosis infection measurement' SubClassOf 'infectious disease biomarker' 'susceptibility to Mycobacterium tuberculosis infection measurement' SubClassOf 'is_about' some 'Tuberculosis' http://www.orpha.net/ORDO/Orphanet_37612 Episodic ataxia type 1 'Episodic ataxia type 1' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262914 Partial duplication of the long arm of chromosome 10 'Partial duplication of the long arm of chromosome 10' SubClassOf 'Partial duplication of chromosome 10' 'Partial duplication of the long arm of chromosome 10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Rare hereditary ataxia' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Early-onset ataxia with dementia' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' http://www.orpha.net/ORDO/Orphanet_140436 Primary intraosseous vascular malformation 'Primary intraosseous vascular malformation' SubClassOf 'Congenital vascular bone syndrome' 'Primary intraosseous vascular malformation' SubClassOf 'Rare genetic bone disease' http://www.orpha.net/ORDO/Orphanet_139455 Autosomal recessive bestrophinopathy 'Autosomal recessive bestrophinopathy' SubClassOf 'Retinal dystrophy' 'Autosomal recessive bestrophinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_250923 Isolated aniridia 'Isolated aniridia' SubClassOf 'Aniridia' 'Isolated aniridia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated aniridia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140456 Autosomal dominant hereditary axonal motor and sensory neuropathy 'Autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140450 Hereditary motor and sensory neuropathy 'Hereditary motor and sensory neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Hereditary motor and sensory neuropathy' SubClassOf 'has_disease_location' some 'motor neuron' 'Hereditary motor and sensory neuropathy' SubClassOf 'hereditary motor neuron disease' 'Hereditary motor and sensory neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262905 Partial trisomy of the long arm of chromosome 9 'Partial trisomy of the long arm of chromosome 9' SubClassOf 'Partial trisomy/tetrasomy of chromosome 9' 'Partial trisomy of the long arm of chromosome 9' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_404473 Severe intellectual disability-progressive spastic diplegia syndrome 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_250932 Autosomal dominant optic atrophy and peripheral neuropathy 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139471 Microphthalmia with brain and digit anomalies 'Microphthalmia with brain and digit anomalies' SubClassOf 'Syndromic developmental defect of the eye' 'Microphthalmia with brain and digit anomalies' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia with brain and digit anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140465 Autosomal dominant distal hereditary motor neuropathy 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'distal hereditary motor neuropathy' 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140462 X-linked recessive hereditary axonal motor and sensory neuropathy 'X-linked recessive hereditary axonal motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' 'X-linked recessive hereditary axonal motor and sensory neuropathy' SubClassOf 'Rare genetic neurological disorder' 'X-linked recessive hereditary axonal motor and sensory neuropathy' SubClassOf 'hereditary motor neuron disease' 'X-linked recessive hereditary axonal motor and sensory neuropathy' SubClassOf 'has_disease_location' some 'motor neuron' http://www.orpha.net/ORDO/Orphanet_404466 Female infertility due to zona pellucida defect 'Female infertility due to zona pellucida defect' SubClassOf 'Female infertility due to fertilization defect' 'Female infertility due to zona pellucida defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_404463 Multisystemic smooth muscle dysfunction syndrome 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'has_disease_location' some 'smooth muscle' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Congenital intestinal motility disorder' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'muscular disease' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Rare genetic urogenital disease' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139480 Autosomal recessive spastic paraplegia type 39 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_140477 Autosomal recessive hereditary sensory and autonomic neuropathy 'Autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140474 Autosomal dominant hereditary sensory and autonomic neuropathy 'Autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140471 Hereditary sensory and autonomic neuropathy 'Hereditary sensory and autonomic neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Hereditary sensory and autonomic neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0021432 childhood-onset hypophosphatasia 'childhood-onset hypophosphatasia' SubClassOf 'Hypophosphatasia' 'childhood-onset hypophosphatasia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.ebi.ac.uk/efo/EFO_0021431 adult hypophosphatasia 'adult hypophosphatasia' SubClassOf 'Hypophosphatasia' 'adult hypophosphatasia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.orpha.net/ORDO/Orphanet_140468 Autosomal recessive distal hereditary motor neuropathy 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf 'distal hereditary motor neuropathy' 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139485 Autosomal recessive ataxia due to ubiquinone deficiency 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Coenzyme Q10 deficiency' 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98616 Conjunctival tumor 'Conjunctival tumor' SubClassOf 'Rare conjunctival disease' 'Conjunctival tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98615 Pigmented conjunctival lesion 'Pigmented conjunctival lesion' SubClassOf 'Rare conjunctival disease' 'Pigmented conjunctival lesion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98617 Bulbar conjunctival dermoid or conjunctival dermolipoma 'Bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf 'Conjunctival tumor' 'Bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98620 Syndromic myopia 'Syndromic myopia' SubClassOf 'Rare genetic refraction anomaly' 'Syndromic myopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98623 Syndromic keratoconus 'Syndromic keratoconus' SubClassOf 'Keratoconus' 'Syndromic keratoconus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98622 Syndromic hyperopia 'Syndromic hyperopia' SubClassOf 'Rare hyperopia and astigmatism' 'Syndromic hyperopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98625 Superficial corneal dystrophy 'Superficial corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Superficial corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98627 Posterior corneal dystrophy 'Posterior corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Posterior corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98626 Stromal corneal dystrophy 'Stromal corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Stromal corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98628 Syndromic corneal dystrophy 'Syndromic corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Syndromic corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98632 Glaucoma associated with neural crest cell migration anomaly 'Glaucoma associated with neural crest cell migration anomaly' SubClassOf 'Secondary dysgenetic glaucoma' 'Glaucoma associated with neural crest cell migration anomaly' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_98631 Secondary dysgenetic glaucoma 'Secondary dysgenetic glaucoma' SubClassOf 'Hereditary glaucoma' 'Secondary dysgenetic glaucoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98634 Iridogoniodysgenesis 'Iridogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Iridogoniodysgenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_47045 Familial cold urticaria 'Familial cold urticaria' SubClassOf 'Cryopyrin-associated periodic syndrome' 'Familial cold urticaria' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Familial cold urticaria' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_98635 Corneogoniodysgenesis 'Corneogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Corneogoniodysgenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98637 Secondary glaucoma due to a proliferation and differentiation anomaly 'Secondary glaucoma due to a proliferation and differentiation anomaly' SubClassOf 'Secondary dysgenetic glaucoma' 'Secondary glaucoma due to a proliferation and differentiation anomaly' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_98641 Syndromic cataract 'Syndromic cataract' SubClassOf 'Rare cataract' 'Syndromic cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98643 Systemic disease with cataract 'Systemic disease with cataract' SubClassOf 'Syndromic cataract' 'Systemic disease with cataract' SubClassOf 'Rare cataract' http://www.orpha.net/ORDO/Orphanet_98652 Lens size anomaly 'Lens size anomaly' SubClassOf 'Genetic lens and zonula anomaly' 'Lens size anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98653 Lens position anomaly 'Lens position anomaly' SubClassOf 'Genetic lens and zonula anomaly' 'Lens position anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98655 Lens shape anomaly 'Lens shape anomaly' SubClassOf 'Genetic lens and zonula anomaly' 'Lens shape anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139447 Progressive cavitating leukoencephalopathy 'Progressive cavitating leukoencephalopathy' SubClassOf 'Leukodystrophy' 'Progressive cavitating leukoencephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139441 Hypomyelination with atrophy of basal ganglia and cerebellum 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'Leukodystrophy' 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_60041 Congenital heart block 'Congenital heart block' SubClassOf 'Genetic cardiac rhythm disease' 'Congenital heart block' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_60040 Megalencephaly-capillary malformation-polymicrogyria syndrome 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Overgrowth syndrome' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Genetic skin vascular disorder' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284271 Autosomal recessive cerebellar ataxia - psychomotor retardation 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'Early-onset ataxia with dementia' 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'Rare hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_284289 Adult-onset autosomal recessive cerebellar ataxia 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'Rare hereditary ataxia' 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'Early-onset ataxia with dementia' http://www.orpha.net/ORDO/Orphanet_60015 Parietal foramina 'Parietal foramina' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Parietal foramina' SubClassOf 'Genetic cranial malformation' 'Parietal foramina' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35099 Isolated brachycephaly 'Isolated brachycephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated brachycephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated brachycephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35098 Isolated plagiocephaly 'Isolated plagiocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated plagiocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated plagiocephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98603 Secretory apparatus of the lacrimal system anomaly 'Secretory apparatus of the lacrimal system anomaly' SubClassOf 'Rare lacrimal system disease' 'Secretory apparatus of the lacrimal system anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98605 Excretory apparatus of the lacrimal system anomaly 'Excretory apparatus of the lacrimal system anomaly' SubClassOf 'Rare lacrimal system disease' 'Excretory apparatus of the lacrimal system anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98604 Congenital alacrima 'Congenital alacrima' SubClassOf 'Secretory apparatus of the lacrimal system anomaly' 'Congenital alacrima' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98606 Syndromic orbital border hypoplasia 'Syndromic orbital border hypoplasia' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Syndromic orbital border hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98608 Anomaly of the secretory and excretory apparatus of the lacrimal system 'Anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'Rare lacrimal system disease' 'Anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139406 Encephalopathy due to prosaposin deficiency 'Encephalopathy due to prosaposin deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to prosaposin deficiency' SubClassOf 'Sphingolipidosis' 'Encephalopathy due to prosaposin deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_60025 Pulmonary alveolar microlithiasis 'Pulmonary alveolar microlithiasis' SubClassOf 'Rare genetic respiratory disease' 'Pulmonary alveolar microlithiasis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35093 Isolated scaphocephaly 'Isolated scaphocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated scaphocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated scaphocephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96055 Tetrasomy 21 'Tetrasomy 21' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Tetrasomy 21' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96059 Mosaic trisomy 4 'Mosaic trisomy 4' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'perinatal disease' 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284247 Familial retinal arterial macroaneurysm 'Familial retinal arterial macroaneurysm' SubClassOf 'Genetic vitreous-retinal disease' 'Familial retinal arterial macroaneurysm' SubClassOf 'Rare syndrome with cardiac malformations' 'Familial retinal arterial macroaneurysm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96068 Mosaic trisomy 22 'Mosaic trisomy 22' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 22' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96069 Distal trisomy 1p36 'Distal trisomy 1p36' SubClassOf 'Partial duplication of the short arm of chromosome 1' 'Distal trisomy 1p36' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96060 Mosaic trisomy 5 'Mosaic trisomy 5' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96061 Mosaic trisomy 8 'Mosaic trisomy 8' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247262 Hyperphosphatasia-intellectual disability syndrome 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Syndrome with brachydactyly' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96063 Mosaic trisomy 10 'Mosaic trisomy 10' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262887 Partial duplication of the long arm of chromosome 7 'Partial duplication of the long arm of chromosome 7' SubClassOf 'Partial duplication of chromosome 7' 'Partial duplication of the long arm of chromosome 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96078 16p13.3 microduplication syndrome '16p13.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' '16p13.3 microduplication syndrome' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_262896 Partial duplication of the long arm of chromosome 8 'Partial duplication of the long arm of chromosome 8' SubClassOf 'Partial duplication of chromosome 8' 'Partial duplication of the long arm of chromosome 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96070 Distal trisomy 2p 'Distal trisomy 2p' SubClassOf 'Partial duplication of the short arm of chromosome 2' 'Distal trisomy 2p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96071 Distal trisomy 3p 'Distal trisomy 3p' SubClassOf 'Partial duplication of the short arm of chromosome 3' 'Distal trisomy 3p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96074 Distal trisomy 7p 'Distal trisomy 7p' SubClassOf 'Partial duplication of the short arm of chromosome 7' 'Distal trisomy 7p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_84096 Unknown leukodystrophy 'Unknown leukodystrophy' SubClassOf 'Leukodystrophy' 'Unknown leukodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_84090 Fibronectin glomerulopathy 'Fibronectin glomerulopathy' SubClassOf 'Primary glomerular disease' 'Fibronectin glomerulopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_84093 Hereditary thermosensitive neuropathy 'Hereditary thermosensitive neuropathy' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Hereditary thermosensitive neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98661 Syndromic retinitis pigmentosa 'Syndromic retinitis pigmentosa' SubClassOf 'Retinal dystrophy' 'Syndromic retinitis pigmentosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98664 Genetic macular dystrophy 'Genetic macular dystrophy' SubClassOf 'Retinal dystrophy' 'Genetic macular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98667 Disease predisposing to age-related macular degeneration 'Disease predisposing to age-related macular degeneration' SubClassOf 'Genetic vitreous-retinal disease' 'Disease predisposing to age-related macular degeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98666 Unclassified primitive or secondary maculopathy 'Unclassified primitive or secondary maculopathy' SubClassOf 'Genetic macular dystrophy' 'Unclassified primitive or secondary maculopathy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_98669 Congenital vitreoretinal dysplasia 'Congenital vitreoretinal dysplasia' SubClassOf 'Vitreoretinopathy' 'Congenital vitreoretinal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98672 Autosomal dominant optic atrophy 'Autosomal dominant optic atrophy' SubClassOf 'hereditary optic atrophy' 'Autosomal dominant optic atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98673 Autosomal dominant optic atrophy, classic type 'Autosomal dominant optic atrophy, classic type' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy, classic type' SubClassOf 'hereditary optic atrophy' http://www.orpha.net/ORDO/Orphanet_98676 Autosomal recessive isolated optic atrophy 'Autosomal recessive isolated optic atrophy' SubClassOf 'Autosomal recessive optic atrophy' 'Autosomal recessive isolated optic atrophy' SubClassOf 'hereditary optic atrophy' http://www.orpha.net/ORDO/Orphanet_98675 Autosomal recessive optic atrophy 'Autosomal recessive optic atrophy' SubClassOf 'hereditary optic atrophy' 'Autosomal recessive optic atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98670 Vitreoretinal degeneration 'Vitreoretinal degeneration' SubClassOf 'Vitreoretinopathy' 'Vitreoretinal degeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98682 Essential strabismus 'Essential strabismus' SubClassOf 'Rare strabismus and restriction syndrome' 'Essential strabismus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98687 Supranuclear oculomotor palsy 'Supranuclear oculomotor palsy' SubClassOf 'Oculomotor palsy' 'Supranuclear oculomotor palsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98686 Congenital trochlear nerve palsy 'Congenital trochlear nerve palsy' SubClassOf 'Nuclear oculomotor paralysis' 'Congenital trochlear nerve palsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001639 deficiency anemia 'deficiency anemia' SubClassOf 'anemia' 'deficiency anemia' SubClassOf 'anemia' http://www.orpha.net/ORDO/Orphanet_84064 Syndromic diarrhea 'Syndromic diarrhea' SubClassOf 'Genetic parenchymatous liver disease' 'Syndromic diarrhea' SubClassOf 'Rare genetic hepatic disease' http://www.orpha.net/ORDO/Orphanet_262833 Partial duplication of the long arm of chromosome 1 'Partial duplication of the long arm of chromosome 1' SubClassOf 'Partial duplication of chromosome 1' 'Partial duplication of the long arm of chromosome 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262842 Partial duplication of the long arm of chromosome 2 'Partial duplication of the long arm of chromosome 2' SubClassOf 'Partial duplication of chromosome 2' 'Partial duplication of the long arm of chromosome 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001657 brain cancer 'brain cancer' SubClassOf 'central nervous system cancer' 'brain cancer' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0013648 familial progressive hyperpigmentation 'familial progressive hyperpigmentation' SubClassOf 'hyperpigmentation of the skin' 'familial progressive hyperpigmentation' SubClassOf 'hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_211240 Genetic vascular anomaly 'Genetic vascular anomaly' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Genetic vascular anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013646 chromosome 8q21.11 deletion syndrome 'chromosome 8q21.11 deletion syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome 8q21.11 deletion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0001674 diverticulitis of colon 'diverticulitis of colon' SubClassOf 'diverticulitis' 'diverticulitis of colon' SubClassOf 'colonic disorder' 'diverticulitis of colon' SubClassOf 'diverticulitis' 'diverticulitis of colon' SubClassOf 'colonic disorder' http://purl.obolibrary.org/obo/MONDO_0001673 diarrheal disease 'diarrheal disease' SubClassOf 'digestive system disease' 'diarrheal disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0001672 bronchus cancer 'bronchus cancer' SubClassOf 'respiratory system cancer' 'bronchus cancer' SubClassOf 'bronchial neoplasm' 'bronchus cancer' SubClassOf 'respiratory system cancer' 'bronchus cancer' SubClassOf 'bronchial neoplasm' http://www.orpha.net/ORDO/Orphanet_262812 Partial trisomy/tetrasomy of the short arm of chromosome 18 'Partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'Partial trisomy/tetrasomy of chromosome 18' 'Partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001684 exocrine pancreatic insufficiency 'exocrine pancreatic insufficiency' SubClassOf 'pancreas disease' 'exocrine pancreatic insufficiency' SubClassOf 'pancreas disease' http://www.orpha.net/ORDO/Orphanet_262803 Partial duplication of the short arm of chromosome 17 'Partial duplication of the short arm of chromosome 17' SubClassOf 'Partial duplication of chromosome 17' 'Partial duplication of the short arm of chromosome 17' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia 'combined malonic and methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' 'combined malonic and methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' http://www.orpha.net/ORDO/Orphanet_308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001697 reading disorder 'reading disorder' SubClassOf 'learning disability' 'reading disorder' SubClassOf 'learning disability' http://purl.obolibrary.org/obo/MONDO_0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome 'alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf 'alopecia' 'alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0011018 brachyolmia-amelogenesis imperfecta syndrome 'brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'musculoskeletal system disease' 'brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'genetic disorder' 'brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_262878 Partial duplication of the long arm of chromosome 6 'Partial duplication of the long arm of chromosome 6' SubClassOf 'Partial duplication of chromosome 6' 'Partial duplication of the long arm of chromosome 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011012 African iron overload 'African iron overload' SubClassOf 'hereditary hemochromatosis' 'African iron overload' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0011017 Naxos disease 'Naxos disease' SubClassOf 'arrhythmogenic right ventricular cardiomyopathy' 'Naxos disease' SubClassOf 'arrhythmogenic right ventricular cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_262869 Partial trisomy of the long arm of chromosome 5 'Partial trisomy of the long arm of chromosome 5' SubClassOf 'Partial trisomy/tetrasomy of chromosome 5' 'Partial trisomy of the long arm of chromosome 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96097 Distal trisomy 5q 'Distal trisomy 5q' SubClassOf 'Partial trisomy of the long arm of chromosome 5' 'Distal trisomy 5q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96098 Distal trisomy 6q 'Distal trisomy 6q' SubClassOf 'Partial duplication of the long arm of chromosome 6' 'Distal trisomy 6q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013688 linear and whorled nevoid hypermelanosis 'linear and whorled nevoid hypermelanosis' SubClassOf 'hyperpigmentation of the skin' 'linear and whorled nevoid hypermelanosis' SubClassOf 'hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96094 Distal trisomy 2q 'Distal trisomy 2q' SubClassOf 'Partial duplication of the long arm of chromosome 2' 'Distal trisomy 2q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96096 Distal trisomy 4q 'Distal trisomy 4q' SubClassOf 'Partial duplication of the long arm of chromosome 4' 'Distal trisomy 4q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262860 Partial duplication of the long arm of chromosome 4 'Partial duplication of the long arm of chromosome 4' SubClassOf 'Partial duplication of chromosome 4' 'Partial duplication of the long arm of chromosome 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011045 MMEP syndrome 'MMEP syndrome' SubClassOf 'syndromic intellectual disability' 'MMEP syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011048 epilepsy-microcephaly-skeletal dysplasia syndrome 'epilepsy-microcephaly-skeletal dysplasia syndrome' SubClassOf 'syndromic intellectual disability' 'epilepsy-microcephaly-skeletal dysplasia syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_262851 Partial duplication of the long arm of chromosome 3 'Partial duplication of the long arm of chromosome 3' SubClassOf 'Partial duplication of chromosome 3' 'Partial duplication of the long arm of chromosome 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011049 fine-Lubinsky syndrome 'fine-Lubinsky syndrome' SubClassOf 'syndromic intellectual disability' 'fine-Lubinsky syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011041 ectodermal dysplasia with natal teeth, Turnpenny type 'ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'ectodermal dysplasia syndrome' 'ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0001493 chronic pulmonary heart disease 'chronic pulmonary heart disease' SubClassOf 'cor pulmonale' 'chronic pulmonary heart disease' SubClassOf 'cor pulmonale' http://www.orpha.net/ORDO/Orphanet_247604 Juvenile primary lateral sclerosis 'Juvenile primary lateral sclerosis' SubClassOf 'Genetic motor neuron disease' 'Juvenile primary lateral sclerosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0025481 zoonosis 'zoonosis' SubClassOf 'infectious disease' 'zoonosis' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'Syndrome with microcephaly as major feature' 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_221039 Hereditary sclerosing poikiloderma, Weary type 'Hereditary sclerosing poikiloderma, Weary type' SubClassOf 'Hereditary poikiloderma' 'Hereditary sclerosing poikiloderma, Weary type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247623 Perinatal lethal hypophosphatasia 'Perinatal lethal hypophosphatasia' SubClassOf 'perinatal disease' 'Perinatal lethal hypophosphatasia' SubClassOf 'Hypophosphatasia' 'Perinatal lethal hypophosphatasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101150 Autosomal recessive dopa-responsive dystonia 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of pterin metabolism' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of tyrosine metabolism' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Dopa-responsive dystonia' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Rare genetic dystonia' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of neurotransmitter metabolism and transport' http://www.orpha.net/ORDO/Orphanet_306504 Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'Junctional epidermolysis bullosa' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'inherited epidermolysis bullosa' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'Genetic epidermal disorder' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_306519 Familial primary hypomagnesemia with hypocalcuria 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf 'Familial primary hypomagnesemia' 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306516 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'Familial primary hypomagnesemia' 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_64739 Ovarian hyperstimulation syndrome 'Ovarian hyperstimulation syndrome' SubClassOf 'has_disease_location' some 'ovary' 'Ovarian hyperstimulation syndrome' SubClassOf 'ovarian disease' 'Ovarian hyperstimulation syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_64734 Iridocorneal endothelial syndrome 'Iridocorneal endothelial syndrome' SubClassOf 'Secondary glaucoma due to a proliferation and differentiation anomaly' 'Iridocorneal endothelial syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_64752 Hereditary sensory and autonomic neuropathy type 5 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_64754 Nevus comedonicus syndrome 'Nevus comedonicus syndrome' SubClassOf 'melanocytic nevus' 'Nevus comedonicus syndrome' SubClassOf 'Genetic skin tumor' 'Nevus comedonicus syndrome' SubClassOf 'genetic skin disease' 'Nevus comedonicus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_64748 Dejerine-Sottas syndrome 'Dejerine-Sottas syndrome' SubClassOf 'Hereditary motor and sensory neuropathy' 'Dejerine-Sottas syndrome' SubClassOf 'Rare genetic neurological disorder' 'Dejerine-Sottas syndrome' SubClassOf 'has_disease_location' some 'motor neuron' 'Dejerine-Sottas syndrome' SubClassOf 'hereditary motor neuron disease' http://www.orpha.net/ORDO/Orphanet_306588 Autosomal dominant Opitz G/BBB syndrome 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306561 Autosomal dominant childhood-onset cortical cataract 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'Early-onset non-syndromic cataract' 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'Rare non-syndromic cataract' http://www.orpha.net/ORDO/Orphanet_98127 Autosomal anomaly 'Autosomal anomaly' SubClassOf 'Chromosomal anomaly' 'Autosomal anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306577 Sodium channelopathy-related small fiber neuropathy 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Sodium channelopathy-related small fiber neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98130 Autosomal trisomy 'Autosomal trisomy' SubClassOf 'Autosomal anomaly' 'Autosomal trisomy' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Orofacial clefting syndrome' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Frontonasal dysplasia' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Rare genetic bone development disorder' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Rare genetic bone disease' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306527 Isolated hereditary congenital facial paralysis 'Isolated hereditary congenital facial paralysis' SubClassOf 'Paralytic facial malformation' 'Isolated hereditary congenital facial paralysis' SubClassOf 'Cranial nerve and nuclear aplasia' 'Isolated hereditary congenital facial paralysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306522 Familial primary hypomagnesemia with normocalcuria 'Familial primary hypomagnesemia with normocalcuria' SubClassOf 'Familial primary hypomagnesemia' 'Familial primary hypomagnesemia with normocalcuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001515 corneal degeneration 'corneal degeneration' SubClassOf 'corneal disease' 'corneal degeneration' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0001519 entropion 'entropion' SubClassOf 'eyelid disease' 'entropion' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0001528 vulva cancer 'vulva cancer' SubClassOf 'vulvar neoplasm' 'vulva cancer' SubClassOf 'vulvar neoplasm' http://www.orpha.net/ORDO/Orphanet_306530 Congenital hereditary facial paralysis with variable hearing loss 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'Cranial nerve and nuclear aplasia' 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'Paralytic facial malformation' 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'Genetic non-syndromic central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin 'secondary hyperparathyroidism of renal origin' SubClassOf 'secondary hyperparathyroidism' 'secondary hyperparathyroidism of renal origin' SubClassOf 'secondary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0013512 hemoglobin H disease 'hemoglobin H disease' SubClassOf 'alpha thalassemia' 'hemoglobin H disease' SubClassOf 'alpha thalassemia' http://purl.obolibrary.org/obo/MONDO_0001543 lesion of sciatic nerve 'lesion of sciatic nerve' SubClassOf 'sciatic neuropathy' 'lesion of sciatic nerve' SubClassOf 'sciatic neuropathy' http://purl.obolibrary.org/obo/MONDO_0013524 bleeding diathesis due to thromboxane synthesis deficiency 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0013523 Nestor-Guillermo progeria syndrome 'Nestor-Guillermo progeria syndrome' SubClassOf 'primary osteolysis' 'Nestor-Guillermo progeria syndrome' SubClassOf 'primary osteolysis' http://www.orpha.net/ORDO/Orphanet_247573 Adult-onset citrullinemia type I 'Adult-onset citrullinemia type I' SubClassOf 'Citrullinemia type I' 'Adult-onset citrullinemia type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001551 ulceration of vulva 'ulceration of vulva' SubClassOf 'vulvar disease' 'ulceration of vulva' SubClassOf 'vulvar disease' http://purl.obolibrary.org/obo/MONDO_0001554 phacogenic glaucoma 'phacogenic glaucoma' SubClassOf 'glaucoma' 'phacogenic glaucoma' SubClassOf 'glaucoma' http://www.orpha.net/ORDO/Orphanet_247546 Acute neonatal citrullinemia type I 'Acute neonatal citrullinemia type I' SubClassOf 'Citrullinemia type I' 'Acute neonatal citrullinemia type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001558 Potter sequence 'Potter sequence' SubClassOf 'oligohydramnios' 'Potter sequence' SubClassOf 'oligohydramnios' http://purl.obolibrary.org/obo/MONDO_0001563 vestibulocochlear nerve disorder 'vestibulocochlear nerve disorder' SubClassOf 'peripheral nervous system disease' 'vestibulocochlear nerve disorder' SubClassOf 'cranial nerve neuropathy' 'vestibulocochlear nerve disorder' SubClassOf 'peripheral nervous system disease' 'vestibulocochlear nerve disorder' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0001567 nephrocalcinosis 'nephrocalcinosis' SubClassOf 'kidney disease' 'nephrocalcinosis' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0001566 hypercalcemia disease 'hypercalcemia disease' SubClassOf 'calcium metabolic disease' 'hypercalcemia disease' SubClassOf 'calcium metabolic disease' http://purl.obolibrary.org/obo/MONDO_0013543 trypsinogen deficiency 'trypsinogen deficiency' SubClassOf 'genetic disorder' 'trypsinogen deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0001574 capillary disorder 'capillary disorder' SubClassOf 'vascular disease' 'capillary disorder' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0001586 mucopolysaccharidosis type 1 'mucopolysaccharidosis type 1' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 1' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0001583 diabetic polyneuropathy 'diabetic polyneuropathy' SubClassOf 'diabetic neuropathy' 'diabetic polyneuropathy' SubClassOf 'diabetic neuropathy' http://purl.obolibrary.org/obo/MONDO_0001580 lacrimal duct cancer 'lacrimal duct cancer' SubClassOf 'lacrimal system cancer' 'lacrimal duct cancer' SubClassOf 'lacrimal system cancer' http://www.orpha.net/ORDO/Orphanet_98155 Gonosome anomaly 'Gonosome anomaly' SubClassOf 'Chromosomal anomaly' 'Gonosome anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98157 Gonosome structural anomaly 'Gonosome structural anomaly' SubClassOf 'Gonosome anomaly' 'Gonosome structural anomaly' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_98156 Gonosome number anomaly 'Gonosome number anomaly' SubClassOf 'Gonosome anomaly' 'Gonosome number anomaly' SubClassOf 'Chromosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0013561 chondrodysplasia with joint dislocations, gPAPP type 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'musculoskeletal system disease' 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'genetic disorder' 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'sulfation-related bone disorder' http://www.orpha.net/ORDO/Orphanet_98152 Autosomal uniparental disomy 'Autosomal uniparental disomy' SubClassOf 'Autosomal anomaly' 'Autosomal uniparental disomy' SubClassOf 'Chromosomal anomaly' 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 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_247585 Citrullinemia type II 'Citrullinemia type II' SubClassOf 'Citrin deficiency' 'Citrullinemia type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247582 Citrin deficiency 'Citrin deficiency' SubClassOf 'Citrullinemia' 'Citrin deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247598 Neonatal intrahepatic cholestasis due to citrin deficiency 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'Citrin deficiency' 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001377 vitreous syneresis 'vitreous syneresis' SubClassOf 'eye degenerative disorder' 'vitreous syneresis' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0001374 bladder sarcoma 'bladder sarcoma' SubClassOf 'urinary bladder cancer' 'bladder sarcoma' SubClassOf 'urinary bladder cancer' http://purl.obolibrary.org/obo/MONDO_0001378 urachus cancer 'urachus cancer' SubClassOf 'urinary bladder cancer' 'urachus cancer' SubClassOf 'urinary bladder cancer' http://purl.obolibrary.org/obo/MONDO_0001370 pericardial effusion 'pericardial effusion' SubClassOf 'pericardium disorder' 'pericardial effusion' SubClassOf 'pericardium disorder' http://purl.obolibrary.org/obo/MONDO_0013355 congenital dyserythropoietic anemia type 4 'congenital dyserythropoietic anemia type 4' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 4' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0013359 familial hyperaldosteronism type III 'familial hyperaldosteronism type III' SubClassOf 'familial hyperaldosteronism' 'familial hyperaldosteronism type III' SubClassOf 'familial hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800094 http://purl.obolibrary.org/obo/MONDO_0040998 Pasteurella multocida infectious disease 'Pasteurella multocida infectious disease' SubClassOf 'pasteurellosis' 'Pasteurella multocida infectious disease' SubClassOf 'pasteurellosis' http://purl.obolibrary.org/obo/MONDO_0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013360 brachyolmia, Maroteaux type 'brachyolmia, Maroteaux type' SubClassOf 'brachyolmia' 'brachyolmia, Maroteaux type' SubClassOf 'brachyolmia' http://www.orpha.net/ORDO/Orphanet_101092 Hyper-IgM syndrome type 5 'Hyper-IgM syndrome type 5' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101090 Hyper-IgM syndrome type 3 'Hyper-IgM syndrome type 3' SubClassOf 'Hyper-IgM syndrome with susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101091 Hyper-IgM syndrome type 4 'Hyper-IgM syndrome type 4' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247525 Citrullinemia type I 'Citrullinemia type I' SubClassOf 'Citrullinemia' 'Citrullinemia type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247522 Primary ciliary dyskinesia - retinitis pigmentosa 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_247511 Autosomal dominant secondary polycythemia 'Autosomal dominant secondary polycythemia' SubClassOf 'Congenital secondary polycythemia' 'Autosomal dominant secondary polycythemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101030 Subependymal nodular heterotopia 'Subependymal nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' 'Subependymal nodular heterotopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101049 Familial hypocalciuric hypercalcemia type 2 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'Familial hypocalciuric hypercalcemia' 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'participates_in' some 'calcium ion homeostasis' 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.orpha.net/ORDO/Orphanet_101041 Familial hypofibrinogenemia 'Familial hypofibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' 'Familial hypofibrinogenemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101042 Taussig-Bing syndrome 'Taussig-Bing syndrome' SubClassOf 'Double outlet right ventricle' 'Taussig-Bing syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome 'Romano-Ward syndrome' SubClassOf 'Familial long QT syndrome' 'Romano-Ward syndrome' SubClassOf 'Rare genetic cardiac disease' http://www.orpha.net/ORDO/Orphanet_101010 Autosomal recessive spastic paraplegia type 30 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_101011 Autosomal dominant spastic paraplegia type 31 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_101029 Sub-cortical nodular heterotopia 'Sub-cortical nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' 'Sub-cortical nodular heterotopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101028 Transaldolase deficiency 'Transaldolase deficiency' SubClassOf 'Disorder of pentose phosphate metabolism' 'Transaldolase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101075 X-linked Charcot-Marie-Tooth disease type 1 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'Hereditary motor and sensory neuropathy' 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'Rare genetic neurological disorder' 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'has_disease_location' some 'motor neuron' 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'hereditary motor neuron disease' http://www.orpha.net/ORDO/Orphanet_101070 Bilateral frontoparietal polymicrogyria 'Bilateral frontoparietal polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral frontoparietal polymicrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101071 Unilateral hemispheric polymicrogyria 'Unilateral hemispheric polymicrogyria' SubClassOf 'Unilateral polymicrogyria' 'Unilateral hemispheric polymicrogyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101089 Hyper-IgM syndrome type 2 'Hyper-IgM syndrome type 2' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101088 X-linked hyper-IgM syndrome 'X-linked hyper-IgM syndrome' SubClassOf 'Hyper-IgM syndrome with susceptibility to opportunistic infections' 'X-linked hyper-IgM syndrome' SubClassOf 'Combined T and B cell immunodeficiency' 'X-linked hyper-IgM syndrome' SubClassOf 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' http://www.orpha.net/ORDO/Orphanet_37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'malabsorption syndrome' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'Genetic polyendocrinopathy' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'Genetic intractable diarrhea of infancy' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101052 Microlissencephaly type B 'Microlissencephaly type B' SubClassOf 'Microlissencephaly' 'Microlissencephaly type B' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_101050 Familial hypocalciuric hypercalcemia type 3 'Familial hypocalciuric hypercalcemia type 3' SubClassOf 'Familial hypocalciuric hypercalcemia' 'Familial hypocalciuric hypercalcemia type 3' SubClassOf 'participates_in' some 'calcium ion homeostasis' 'Familial hypocalciuric hypercalcemia type 3' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Familial hypocalciuric hypercalcemia type 3' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.orpha.net/ORDO/Orphanet_101068 Congenital stromal corneal dystrophy 'Congenital stromal corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Congenital stromal corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101063 Situs inversus totalis 'Situs inversus totalis' SubClassOf 'Genetic cardiac anomaly' 'Situs inversus totalis' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_88642 Channelopathy-associated congenital insensitivity to pain 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_88644 Autosomal recessive ataxia, Beauce type 'Autosomal recessive ataxia, Beauce type' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive ataxia, Beauce type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88643 Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'Syndromic hypothyroidism' 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'Rare hypothyroidism' http://www.orpha.net/ORDO/Orphanet_88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Classic organic aciduria' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Neurometabolic disease' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Organic aciduria' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_88630 Terminal osseous dysplasia - pigmentary defects 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Acromelic dysplasia' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Filamin-related bone disorder' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Primary bone dysplasia' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_88635 Myopathy due to calsequestrin and SERCA1 protein overload 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'Qualitative or quantitative defects of protein SERCA1' 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'Genetic skeletal muscle disease' 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88632 Familial ocular anterior segment mesenchymal dysgenesis 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'Non-syndromic developmental defect of the eye' 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_88628 Posterior column ataxia - retinitis pigmentosa 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'Early-onset ataxia with dementia' 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'Rare hereditary ataxia' 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' http://www.orpha.net/ORDO/Orphanet_88621 Ichthyosis prematurity syndrome 'Ichthyosis prematurity syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis prematurity syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_49042 Dentinogenesis imperfecta 'Dentinogenesis imperfecta' SubClassOf 'Hereditary dentin defect' 'Dentinogenesis imperfecta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88616 Autosomal recessive non-syndromic intellectual disability 'Autosomal recessive non-syndromic intellectual disability' SubClassOf 'Rare intellectual disability without developmental anomaly' 'Autosomal recessive non-syndromic intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88619 Familial acute necrotizing encephalopathy 'Familial acute necrotizing encephalopathy' SubClassOf 'Rare genetic neurological disorder' 'Familial acute necrotizing encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'Glycogen storage disease due to lactate dehydrogenase deficiency' 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306661 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'Disorder of O-N-acetylgalactosaminylglycan synthesis' 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_101111 Spinocerebellar ataxia type 25 'Spinocerebellar ataxia type 25' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 25' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101112 Spinocerebellar ataxia type 26 'Spinocerebellar ataxia type 26' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 26' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101110 Spinocerebellar ataxia type 20 'Spinocerebellar ataxia type 20' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 20' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'Glycogen storage disease due to lactate dehydrogenase deficiency' 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306669 Hemiparkinsonism-hemiatrophy syndrome 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101108 Spinocerebellar ataxia type 23 'Spinocerebellar ataxia type 23' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 23' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101109 Spinocerebellar ataxia type 28 'Spinocerebellar ataxia type 28' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Spinocerebellar ataxia type 28' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 28' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88661 Amelogenesis imperfecta 'Amelogenesis imperfecta' SubClassOf 'Rare odontal or periodontal disorder' 'Amelogenesis imperfecta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001402 vaginal cancer 'vaginal cancer' SubClassOf 'Genital neoplasm, female' 'vaginal cancer' SubClassOf 'Vaginal neoplasm' 'vaginal cancer' SubClassOf 'Genital neoplasm, female' 'vaginal cancer' SubClassOf 'Vaginal neoplasm' http://www.orpha.net/ORDO/Orphanet_88660 Pseudohyperaldosteronism type 2 'Pseudohyperaldosteronism type 2' SubClassOf 'Genetic hypertension' 'Pseudohyperaldosteronism type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001407 tracheal cancer 'tracheal cancer' SubClassOf 'respiratory system cancer' 'tracheal cancer' SubClassOf 'respiratory system cancer' http://www.orpha.net/ORDO/Orphanet_88659 Autosomal dominant progressive nephropathy with hypertension 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf 'Genetic hypertension' 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001409 esophagitis 'esophagitis' SubClassOf 'esophageal disease' 'esophagitis' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0001410 postmenopausal atrophic vaginitis 'postmenopausal atrophic vaginitis' SubClassOf 'vaginitis' 'postmenopausal atrophic vaginitis' SubClassOf 'vaginitis' http://www.orpha.net/ORDO/Orphanet_284408 Glycerol kinase deficiency, infantile form 'Glycerol kinase deficiency, infantile form' SubClassOf 'Isolated glycerol kinase deficiency' 'Glycerol kinase deficiency, infantile form' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Glycerol kinase deficiency, infantile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001436 hemosiderosis 'hemosiderosis' SubClassOf 'iron metabolism disease' 'hemosiderosis' SubClassOf 'iron metabolism disease' http://purl.obolibrary.org/obo/MONDO_0001433 vaginal disorder 'vaginal disorder' SubClassOf 'female reproductive system disease' 'vaginal disorder' SubClassOf 'female reproductive system disease' http://www.orpha.net/ORDO/Orphanet_284411 Glycerol kinase deficiency, juvenile form 'Glycerol kinase deficiency, juvenile form' SubClassOf 'Isolated glycerol kinase deficiency' 'Glycerol kinase deficiency, juvenile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001438 postinflammatory pulmonary fibrosis 'postinflammatory pulmonary fibrosis' SubClassOf 'pulmonary fibrosis' 'postinflammatory pulmonary fibrosis' SubClassOf 'pulmonary fibrosis' http://purl.obolibrary.org/obo/MONDO_0001437 pulmonary alveolar proteinosis 'pulmonary alveolar proteinosis' SubClassOf 'lung disease' 'pulmonary alveolar proteinosis' SubClassOf 'lung disease' http://www.orpha.net/ORDO/Orphanet_284414 Glycerol kinase deficiency, adult form 'Glycerol kinase deficiency, adult form' SubClassOf 'Isolated glycerol kinase deficiency' 'Glycerol kinase deficiency, adult form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284417 Phosphoserine aminotransferase deficiency 'Phosphoserine aminotransferase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' 'Phosphoserine aminotransferase deficiency' SubClassOf 'Disorder of serine or glycine metabolism' http://purl.obolibrary.org/obo/MONDO_0001444 Chagas disease 'Chagas disease' SubClassOf 'trypanosomiasis' 'Chagas disease' SubClassOf 'trypanosomiasis' http://www.orpha.net/ORDO/Orphanet_98099 Autosomal recessive syndromic cerebellar ataxia 'Autosomal recessive syndromic cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive syndromic cerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013426 aneurysm-osteoarthritis syndrome 'aneurysm-osteoarthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800091 http://www.orpha.net/ORDO/Orphanet_98096 Autosomal recessive metabolic cerebellar ataxia 'Autosomal recessive metabolic cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive metabolic cerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98095 Autosomal recessive congenital cerebellar ataxia 'Autosomal recessive congenital cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive congenital cerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98098 Autosomal recessive degenerative and progressive cerebellar ataxia 'Autosomal recessive degenerative and progressive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive degenerative and progressive cerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Early-onset ataxia with dementia' 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Rare hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0001458 ulnar nerve lesion 'ulnar nerve lesion' SubClassOf 'ulnar neuropathy' 'ulnar nerve lesion' SubClassOf 'ulnar neuropathy' http://www.ebi.ac.uk/efo/EFO_0008615 Cystic Kidney Disease 'Cystic Kidney Disease' SubClassOf 'kidney disease' 'Cystic Kidney Disease' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0001476 coloboma 'coloboma' SubClassOf 'eye disease' 'coloboma' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0013452 multisystemic smooth muscle dysfunction syndrome 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'disease of genitourinary system' http://www.ebi.ac.uk/efo/EFO_0008623 dysthymic disorder 'dysthymic disorder' SubClassOf 'mood disorder' 'dysthymic disorder' SubClassOf 'mood disorder' http://www.ebi.ac.uk/efo/EFO_0008624 vitreous body disease 'vitreous body disease' SubClassOf 'eye disease' 'vitreous body disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0013464 episodic ataxia type 5 'episodic ataxia type 5' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 5' SubClassOf 'hereditary episodic ataxia' http://www.ebi.ac.uk/efo/EFO_0006352 laryngeal squamous cell carcinoma 'laryngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'laryngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0001259 pituitary gland infarction 'pituitary gland infarction' SubClassOf 'necrosis of pituitary' 'pituitary gland infarction' SubClassOf 'necrosis of pituitary' http://purl.obolibrary.org/obo/MONDO_0015898 adrenogenital syndrome 'adrenogenital syndrome' SubClassOf 'adrenal gland disease' 'adrenogenital syndrome' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0001269 scleral disorder 'scleral disorder' SubClassOf 'eye disease' 'scleral disorder' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0006343 chronic periodontitis 'chronic periodontitis' SubClassOf 'periodontitis' 'chronic periodontitis' SubClassOf 'periodontitis' http://www.orpha.net/ORDO/Orphanet_52901 Isolated follicle stimulating hormone deficiency 'Isolated follicle stimulating hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Isolated follicle stimulating hormone deficiency' SubClassOf 'Rare genetic hypothalamic or pituitary disease' http://purl.obolibrary.org/obo/MONDO_0013245 syndromic multisystem autoimmune disease due to ITCH deficiency 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'syndromic intellectual disability' 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_284804 Ocular albinism 'Ocular albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Ocular albinism' SubClassOf 'Disorder of melanin metabolism' 'Ocular albinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247827 Ectodermal dysplasia - cutaneous syndactyly syndrome 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'Rare genetic skin disease' 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_247820 Ectodermal dysplasia - syndactyly syndrome 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'Rare genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0001288 endometriosis of rectovaginal septum and vagina 'endometriosis of rectovaginal septum and vagina' SubClassOf 'endometriosis' 'endometriosis of rectovaginal septum and vagina' SubClassOf 'endometriosis' http://www.orpha.net/ORDO/Orphanet_284814 Disorder of phenylalanine metabolism 'Disorder of phenylalanine metabolism' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' 'Disorder of phenylalanine metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284811 Syndromic oculocutaneous albinism 'Syndromic oculocutaneous albinism' SubClassOf 'Genetic hypopigmentation of the skin' 'Syndromic oculocutaneous albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Syndromic oculocutaneous albinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001280 choroiditis 'choroiditis' SubClassOf 'optic choroid disorder' 'choroiditis' SubClassOf 'optic choroid disorder' http://purl.obolibrary.org/obo/MONDO_0001285 endometriosis of pelvic peritoneum 'endometriosis of pelvic peritoneum' SubClassOf 'endometriosis' 'endometriosis of pelvic peritoneum' SubClassOf 'endometriosis' http://www.orpha.net/ORDO/Orphanet_284818 Disorder of tyrosine metabolism 'Disorder of tyrosine metabolism' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' 'Disorder of tyrosine metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001282 fallopian tube endometriosis 'fallopian tube endometriosis' SubClassOf 'fallopian tube disease' 'fallopian tube endometriosis' SubClassOf 'endometriosis' 'fallopian tube endometriosis' SubClassOf 'fallopian tube disease' 'fallopian tube endometriosis' SubClassOf 'endometriosis' http://purl.obolibrary.org/obo/MONDO_0013268 frontonasal dysplasia with alopecia and genital anomaly 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://www.orpha.net/ORDO/Orphanet_247834 Occult macular dystrophy 'Occult macular dystrophy' SubClassOf 'Genetic macular dystrophy' 'Occult macular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001299 diabetic autonomic neuropathy 'diabetic autonomic neuropathy' SubClassOf 'diabetic neuropathy' 'diabetic autonomic neuropathy' SubClassOf 'autonomic neuropathy' 'diabetic autonomic neuropathy' SubClassOf 'diabetic neuropathy' 'diabetic autonomic neuropathy' SubClassOf 'autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0001291 brain compression 'brain compression' SubClassOf 'brain disease' 'brain compression' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0001296 acquired night blindness 'acquired night blindness' SubClassOf 'night blindness' 'acquired night blindness' SubClassOf 'night blindness' http://purl.obolibrary.org/obo/MONDO_0001294 Horner syndrome 'Horner syndrome' SubClassOf 'autonomic neuropathy' 'Horner syndrome' SubClassOf 'autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800085 http://www.orpha.net/ORDO/Orphanet_247868 NLRP12-associated hereditary periodic fever syndrome 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'Hereditary periodic fever syndrome' 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://purl.obolibrary.org/obo/MONDO_0013291 glycogen storage disease XV 'glycogen storage disease XV' SubClassOf 'glycogen storage disease' 'glycogen storage disease XV' SubClassOf 'glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_140997 Orofaciodigital syndrome 'Orofaciodigital syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Orofaciodigital syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofaciodigital syndrome' SubClassOf 'Oromandibular-limb anomalies syndrome' 'Orofaciodigital syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369886 Homozygous 2p21 microdeletion syndrome 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 2' 'Homozygous 2p21 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'Autosomal dominant polycystic kidney disease' 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'has_disease_location' some 'kidney' 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88919 Autosomal recessive Alport syndrome 'Autosomal recessive Alport syndrome' SubClassOf 'Alport syndrome' 'Autosomal recessive Alport syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369873 Obesity due to SIM1 deficiency 'Obesity due to SIM1 deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to SIM1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88918 Autosomal dominant Alport syndrome 'Autosomal dominant Alport syndrome' SubClassOf 'Alport syndrome' 'Autosomal dominant Alport syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369891 Cardiac anomalies-developmental delay-facial dysmorphism syndrome 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Genetic cardiac anomaly' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_369894 Early infantile epileptic encephalopathy without suppression burst 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Neonatal epilepsy syndrome' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Infantile epilepsy syndrome' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'perinatal disease' http://www.orpha.net/ORDO/Orphanet_369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'Mitochondrial disease with eye involvement' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_140957 Autosomal dominant macrothrombocytopenia 'Autosomal dominant macrothrombocytopenia' SubClassOf 'Inherited giant platelet disorder' 'Autosomal dominant macrothrombocytopenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140952 Syndactyly - telecanthus - anogenital and renal malformations 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Syndromic anorectal malformation' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_49382 Achromatopsia 'Achromatopsia' SubClassOf 'Color-vision disease' 'Achromatopsia' SubClassOf 'Syndromic myopia' 'Achromatopsia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247815 Autosomal recessive ataxia due to PEX10 deficiency 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140966 Palmoplantar keratoderma, Nagashima type 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' 'Palmoplantar keratoderma, Nagashima type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140963 Bilateral microtia - deafness - cleft palate 'Bilateral microtia - deafness - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Bilateral microtia - deafness - cleft palate' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_88950 Autosomal dominant medullary cystic kidney disease with hyperuricemia 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'kidney disease' 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'has_disease_location' some 'kidney' 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'Rare genetic renal disease' http://www.orpha.net/ORDO/Orphanet_235832 Congenital vascular bone syndrome 'Congenital vascular bone syndrome' SubClassOf 'Rare genetic bone disease' 'Congenital vascular bone syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88940 Pseudohypoaldosteronism type 2C 'Pseudohypoaldosteronism type 2C' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140989 Primary central nervous system vasculitis 'Primary central nervous system vasculitis' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Primary central nervous system vasculitis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88939 Pseudohypoaldosteronism type 2B 'Pseudohypoaldosteronism type 2B' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88938 Pseudohypoaldosteronism type 2A 'Pseudohypoaldosteronism type 2A' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_269190 Encephaloclastic disorder 'Encephaloclastic disorder' SubClassOf 'Genetic cerebral malformation' 'Encephaloclastic disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369920 Pontocerebellar hypoplasia type 9 'Pontocerebellar hypoplasia type 9' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 9' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98349 Autosomal dominant isolated diffuse palmoplantar keratoderma 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98356 Autosomal recessive isolated diffuse palmoplantar keratoderma 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369913 Combined oxidative phosphorylation defect type 17 'Combined oxidative phosphorylation defect type 17' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 17' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Combined oxidative phosphorylation defect type 17' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'Syndromic genetic deafness' 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'Rare disorder with dystonia and other neurologic or systemic manifestation' 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88993 Esophageal malformation 'Esophageal malformation' SubClassOf 'esophageal disease' 'Esophageal malformation' SubClassOf 'Genetic digestive tract malformation' 'Esophageal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98365 Hereditary stomatocytosis 'Hereditary stomatocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Hereditary stomatocytosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369929 Aldosterone-producing adenoma with seizures and neurological abnormalities 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'familial hyperaldosteronism' 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308998 Disorder of glyoxylate metabolism 'Disorder of glyoxylate metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of glyoxylate metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Disorder of protein N-glycosylation' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Distal arthrogryposis' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'glycosylation')) 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_284790 Qualitative or quantitative defects of tropomyosin 'Qualitative or quantitative defects of tropomyosin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of tropomyosin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369962 Methylmalonic acidemia with homocystinuria, type cblX 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/BTO_0001967 cervical cancer cell line 'cervical cancer cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'cervical carcinoma') 'cervical cancer cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'cervical cancer') http://purl.obolibrary.org/obo/MONDO_0003916 overnutrition 'overnutrition' SubClassOf 'nutritional disorder' 'overnutrition' SubClassOf 'nutritional disorder' http://www.orpha.net/ORDO/Orphanet_98306 Familial partial lipodystrophy 'Familial partial lipodystrophy' SubClassOf 'genetic lipodystrophy' 'Familial partial lipodystrophy' SubClassOf 'Genetic lipodystrophy' 'Familial partial lipodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98305 Genetic lipodystrophy 'Genetic lipodystrophy' SubClassOf 'Rare genetic endocrine disease' 'Genetic lipodystrophy' SubClassOf 'Primary lipodystrophy' 'Genetic lipodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia 'aplastic anemia' SubClassOf 'telomere syndrome' http://www.orpha.net/ORDO/Orphanet_369950 Intellectual disability-seizures-macrocephaly-obesity syndrome 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Syndromic obesity' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369955 Methylmalonic acidemia with homocystinuria, type cblJ 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370968 Congenital muscular dystrophy with intellectual disability 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy with intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003937 spondylitis 'spondylitis' SubClassOf 'inflammatory disease' 'spondylitis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_370959 Congenital muscular dystrophy with cerebellar involvement 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370953 Congenital muscular dystrophy due to dystroglycanopathy 'Congenital muscular dystrophy due to dystroglycanopathy' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy due to dystroglycanopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_282166 Inherited Creutzfeldt-Jakob disease 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Inherited Creutzfeldt-Jakob disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001300 autonomic neuropathy 'autonomic neuropathy' SubClassOf 'peripheral neuropathy' 'autonomic neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0001302 hypertensive heart disease 'hypertensive heart disease' SubClassOf 'heart disease' 'hypertensive heart disease' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome 'epiphyseal dysplasia-hearing loss-dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'epiphyseal dysplasia-hearing loss-dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0001308 corneal deposit 'corneal deposit' SubClassOf 'corneal disease' 'corneal deposit' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0001309 oculomotor nerve paralysis 'oculomotor nerve paralysis' SubClassOf 'third cranial nerve disorder' 'oculomotor nerve paralysis' SubClassOf 'third cranial nerve disorder' http://purl.obolibrary.org/obo/MONDO_0001318 functional gastric disease 'functional gastric disease' SubClassOf 'stomach disease' 'functional gastric disease' SubClassOf 'stomach disease' http://purl.obolibrary.org/obo/MONDO_0001316 streptococcal meningitis 'streptococcal meningitis' SubClassOf 'bacterial meningitis' 'streptococcal meningitis' SubClassOf 'bacterial meningitis' http://purl.obolibrary.org/obo/MONDO_0001325 penile cancer 'penile cancer' SubClassOf 'penile neoplasm' 'penile cancer' SubClassOf 'penile neoplasm' http://purl.obolibrary.org/obo/MONDO_0013304 von Willebrand disease 2 'von Willebrand disease 2' SubClassOf 'hereditary von Willebrand disease' 'von Willebrand disease 2' SubClassOf 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0001328 thyroid hormone resistance syndrome 'thyroid hormone resistance syndrome' SubClassOf 'inherited thyroid metabolism disease' 'thyroid hormone resistance syndrome' SubClassOf 'inherited thyroid metabolism disease' http://www.orpha.net/ORDO/Orphanet_247794 Juvenile cataract - microcornea - renal glucosuria 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Syndromic cataract' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Rare genetic renal disease' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Rare cataract' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_282124 Partial deletion of chromosome 12 'Partial deletion of chromosome 12' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 12' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284786 Qualitative or quantitative defects of troponin 'Qualitative or quantitative defects of troponin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of troponin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247790 FTH1-related iron overload 'FTH1-related iron overload' SubClassOf 'Disorder of iron metabolism and transport' 'FTH1-related iron overload' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'metabolic process')) 'FTH1-related iron overload' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0001332 palindromic rheumatism 'palindromic rheumatism' SubClassOf 'hydrarthrosis' 'palindromic rheumatism' SubClassOf 'rheumatic disease' 'palindromic rheumatism' SubClassOf 'hydrarthrosis' 'palindromic rheumatism' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0001331 conjunctival deposit 'conjunctival deposit' SubClassOf 'Conjunctival Disorder' 'conjunctival deposit' SubClassOf 'Conjunctival Disorder' http://purl.obolibrary.org/obo/MONDO_0001330 presbyopia 'presbyopia' SubClassOf 'eye accommodation disease' 'presbyopia' SubClassOf 'eye accommodation disease' http://purl.obolibrary.org/obo/MONDO_0001334 hypertrichosis of eyelid 'hypertrichosis of eyelid' SubClassOf 'hypertrichosis' 'hypertrichosis of eyelid' SubClassOf 'hypertrichosis' http://purl.obolibrary.org/obo/MONDO_0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0001343 impaired renal function disease 'impaired renal function disease' SubClassOf 'kidney disease' 'impaired renal function disease' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0001357 hypochromic anemia 'hypochromic anemia' SubClassOf 'anemia' 'hypochromic anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0013336 chromosome 19p13.13 deletion syndrome 'chromosome 19p13.13 deletion syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome 19p13.13 deletion syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_369902 Orofaciodigital syndrome type 14 'Orofaciodigital syndrome type 14' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015991 citrullinemia 'citrullinemia' SubClassOf 'urea cycle disorder' 'citrullinemia' SubClassOf 'urea cycle disorder' http://purl.obolibrary.org/obo/MONDO_0001369 chronic laryngitis 'chronic laryngitis' SubClassOf 'laryngitis' 'chronic laryngitis' SubClassOf 'laryngitis' http://purl.obolibrary.org/obo/MONDO_0001134 essential hypertension 'essential hypertension' SubClassOf 'hypertension' 'essential hypertension' SubClassOf 'hypertension' http://www.ebi.ac.uk/efo/EFO_0008896 RNA-Seq 'RNA-Seq' SubClassOf 'assay by sequencer' 'RNA-Seq' SubClassOf 'assay by high throughput sequencer' http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism 'congenital hypogonadotropic hypogonadism' SubClassOf 'hypogonadotropic hypogonadism' 'congenital hypogonadotropic hypogonadism' SubClassOf 'hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome 'facial dysmorphism-shawl scrotum-joint laxity syndrome' SubClassOf 'syndromic intellectual disability' 'facial dysmorphism-shawl scrotum-joint laxity syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0001157 dependent personality disorder 'dependent personality disorder' SubClassOf 'personality disorder' 'dependent personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0015797 UV-sensitive syndrome 'UV-sensitive syndrome' SubClassOf 'autosomal recessive disease' 'UV-sensitive syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0015799 Smith-McCort dysplasia 'Smith-McCort dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013131 polycystic kidney disease 2 'polycystic kidney disease 2' SubClassOf 'Autosomal dominant polycystic kidney disease' 'polycystic kidney disease 2' SubClassOf 'Autosomal dominant polycystic kidney disease' http://purl.obolibrary.org/obo/MONDO_0001165 tongue disorder 'tongue disorder' SubClassOf 'mouth disease' 'tongue disorder' SubClassOf 'mouth disease' http://www.orpha.net/ORDO/Orphanet_247709 Multiple endocrine neoplasia type 2B 'Multiple endocrine neoplasia type 2B' SubClassOf 'Multiple endocrine neoplasia type 2' 'Multiple endocrine neoplasia type 2B' SubClassOf 'Malignant Urinary System Neoplasm' 'Multiple endocrine neoplasia type 2B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001163 paranoid personality disorder 'paranoid personality disorder' SubClassOf 'personality disorder' 'paranoid personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0001161 schizoid personality disorder 'schizoid personality disorder' SubClassOf 'personality disorder' 'schizoid personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0040732 Pseudomonas aeruginosa infectious disease 'Pseudomonas aeruginosa infectious disease' SubClassOf 'Pseudomonas infection' 'Pseudomonas aeruginosa infectious disease' SubClassOf 'Pseudomonas infection' http://purl.obolibrary.org/obo/MONDO_0013144 hereditary antithrombin deficiency 'hereditary antithrombin deficiency' SubClassOf 'inherited thrombophilia' 'hereditary antithrombin deficiency' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0001174 conjunctival vascular disorder 'conjunctival vascular disorder' SubClassOf 'Conjunctival Disorder' 'conjunctival vascular disorder' SubClassOf 'Conjunctival Disorder' http://purl.obolibrary.org/obo/MONDO_0001187 urinary bladder cancer 'urinary bladder cancer' SubClassOf 'bladder tumor' 'urinary bladder cancer' SubClassOf 'bladder tumor' http://purl.obolibrary.org/obo/MONDO_0001182 idiopathic corneal edema 'idiopathic corneal edema' SubClassOf 'corneal edema' 'idiopathic corneal edema' SubClassOf 'corneal edema' http://purl.obolibrary.org/obo/MONDO_0013166 GABA aminotransferase deficiency 'GABA aminotransferase deficiency' SubClassOf 'disorder of beta and omega amino acid metabolism' 'GABA aminotransferase deficiency' SubClassOf 'disorder of beta and omega amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_221120 Pseudoaminopterin syndrome 'Pseudoaminopterin syndrome' SubClassOf 'Syndromic craniosynostosis' 'Pseudoaminopterin syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pseudoaminopterin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001197 qualitative platelet defect 'qualitative platelet defect' SubClassOf 'blood platelet disease' 'qualitative platelet defect' SubClassOf 'blood platelet disease' http://www.ebi.ac.uk/efo/EFO_0006288 NF90-8 'NF90-8' SubClassOf 'bearer_of' some 'Neurofibromatosis type 1' http://www.orpha.net/ORDO/Orphanet_221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'Cutis laxa' 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013182 chromosome 17p13.3 duplication syndrome 'chromosome 17p13.3 duplication syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome 17p13.3 duplication syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013187 factor XIII, A subunit, deficiency of 'factor XIII, A subunit, deficiency of' SubClassOf 'congenital factor XIII deficiency' 'factor XIII, A subunit, deficiency of' SubClassOf 'congenital factor XIII deficiency' http://purl.obolibrary.org/obo/MONDO_0013196 colorectal cancer, hereditary nonpolyposis, type 8 'colorectal cancer, hereditary nonpolyposis, type 8' SubClassOf 'hereditary nonpolyposis colon cancer' 'colorectal cancer, hereditary nonpolyposis, type 8' SubClassOf 'hereditary nonpolyposis colon cancer' http://www.orpha.net/ORDO/Orphanet_369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'immunodeficiency disease' 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'Other genetic epidermal disease' 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370980 Congenital muscular dystrophy without intellectual disability 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy without intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369999 Diffuse palmoplantar keratoderma with painful fissures 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'Primary qualitative or quantitative defects of alpha-dystroglycan' 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_223713 Mitochondrial oxidative phosphorylation disorder 'Mitochondrial oxidative phosphorylation disorder' SubClassOf 'Mitochondrial disease' 'Mitochondrial oxidative phosphorylation disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306462 Congenital sucrase-isomaltase deficiency without starch intolerance 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140917 Stapes ankylosis with broad thumbs and toes 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'Syndromic genetic deafness' 'Stapes ankylosis with broad thumbs and toes' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306474 Congenital sucrase-isomaltase deficiency with starch and lactose intolerance 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294049 Reunion Island's Larsen syndrome 'Reunion Island's Larsen syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Reunion Island's Larsen syndrome' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_140922 Autosomal recessive limb-girdle muscular dystrophy type 2J 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'Qualitative or quantitative defects of titin' 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures 'Benign familial neonatal-infantile seizures' SubClassOf 'Benign partial infantile seizures' http://www.orpha.net/ORDO/Orphanet_140933 Linear atrophoderma of Moulin 'Linear atrophoderma of Moulin' SubClassOf 'inherited epidermolysis bullosa' 'Linear atrophoderma of Moulin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306446 Congenital sucrase-isomaltase deficiency with minimal starch tolerance 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294060 Multiple pterygium syndrome 'Multiple pterygium syndrome' SubClassOf 'Arthrogryposis syndrome' 'Multiple pterygium syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98258 Infantile epilepsy syndrome 'Infantile epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Infantile epilepsy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98257 Neonatal epilepsy syndrome 'Neonatal epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Neonatal epilepsy syndrome' SubClassOf 'perinatal disease' 'Neonatal epilepsy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140941 Short stature due to primary acid-labile subunit deficiency 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Short stature due to primary acid-labile subunit deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98259 Childhood-onset epilepsy syndrome 'Childhood-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Childhood-onset epilepsy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101351 Familial isolated congenital asplenia 'Familial isolated congenital asplenia' SubClassOf 'Non-syndromic visceral malformation' 'Familial isolated congenital asplenia' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Familial isolated congenital asplenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003805 malignant pericardial mesothelioma 'malignant pericardial mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant pericardial mesothelioma' SubClassOf 'Malignant Mesothelioma' http://www.orpha.net/ORDO/Orphanet_306436 Congenital sucrase-isomaltase deficiency with starch intolerance 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101330 Porphyria cutanea tarda 'Porphyria cutanea tarda' SubClassOf 'Chronic hepatic porphyria' 'Porphyria cutanea tarda' SubClassOf 'Genodermatosis with ocular features' 'Porphyria cutanea tarda' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294016 Microcephaly-capillary malformation syndrome 'Microcephaly-capillary malformation syndrome' SubClassOf 'Genetic vascular anomaly' 'Microcephaly-capillary malformation syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-capillary malformation syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98203 Combined dystonia 'Combined dystonia' SubClassOf 'Rare genetic dystonia' 'Combined dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003816 articular cartilage disorder 'articular cartilage disorder' SubClassOf 'joint disease' 'articular cartilage disorder' SubClassOf 'joint disease' http://www.orpha.net/ORDO/Orphanet_294023 Neonatal inflammatory skin and bowel disease 'Neonatal inflammatory skin and bowel disease' SubClassOf 'Other genetic epidermal disease' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'Genetic intestinal disease' 'Neonatal inflammatory skin and bowel disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140908 Brachydactyly type B2 'Brachydactyly type B2' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type B2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140905 Hyperlipidemia due to hepatic triglyceride lipase deficiency 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'Hyperalphalipoproteinemia' 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency 'complement deficiency' SubClassOf 'immunodeficiency disease' 'complement deficiency' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_221054 Acrocephalopolydactyly 'Acrocephalopolydactyly' SubClassOf 'Syndromic craniosynostosis' 'Acrocephalopolydactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247685 Odontohypophosphatasia 'Odontohypophosphatasia' SubClassOf 'Hypophosphatasia' 'Odontohypophosphatasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015826 autosomal dominant spondylocostal dysostosis 'autosomal dominant spondylocostal dysostosis' SubClassOf 'autosomal dominant disease' 'autosomal dominant spondylocostal dysostosis' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0015820 primary cutaneous B-cell lymphoma 'primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous lymphoma' 'primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous lymphoma' http://www.ebi.ac.uk/efo/EFO_0008808 Micro-C XL 'Micro-C XL' SubClassOf 'assay by high throughput sequencer' http://www.orpha.net/ORDO/Orphanet_221046 Poikiloderma with neutropenia 'Poikiloderma with neutropenia' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Poikiloderma with neutropenia' SubClassOf 'Hereditary poikiloderma' 'Poikiloderma with neutropenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247698 Multiple endocrine neoplasia type 2A 'Multiple endocrine neoplasia type 2A' SubClassOf 'Multiple endocrine neoplasia type 2' 'Multiple endocrine neoplasia type 2A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_221043 Hereditary sclerosing poikiloderma with tendon and pulmonary involvement 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'Hereditary poikiloderma' 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'Genetic interstitial lung disease' 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247691 Retinal vasculopathy and cerebral leukodystrophy 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0001212 non-suppurative otitis media 'non-suppurative otitis media' SubClassOf 'Otitis media' 'non-suppurative otitis media' SubClassOf 'Otitis media' http://purl.obolibrary.org/obo/MONDO_0001214 acute conjunctivitis 'acute conjunctivitis' SubClassOf 'conjunctivitis' 'acute conjunctivitis' SubClassOf 'conjunctivitis' http://www.orpha.net/ORDO/Orphanet_98267 Genetic non-syndromic obesity 'Genetic non-syndromic obesity' SubClassOf 'Genetic obesity' 'Genetic non-syndromic obesity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98261 Progressive myoclonic epilepsy 'Progressive myoclonic epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Progressive myoclonic epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Progressive myoclonic epilepsy' SubClassOf 'Rare genetic epilepsy' http://www.orpha.net/ORDO/Orphanet_98260 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://www.orpha.net/ORDO/Orphanet_103912 Epithelio-exfoliative colitis - deafness 'Epithelio-exfoliative colitis - deafness' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Epithelio-exfoliative colitis - deafness' SubClassOf 'Genetic intestinal disease' http://www.orpha.net/ORDO/Orphanet_103910 Congenital enterocyte heparan sulfate deficiency 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Congenital enterocyte heparan sulfate deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001235 appendix cancer 'appendix cancer' SubClassOf 'appendiceal neoplasm' 'appendix cancer' SubClassOf 'appendiceal neoplasm' http://www.orpha.net/ORDO/Orphanet_103909 Diarrhea-vomiting due to trehalase deficiency 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306486 Congenital sucrase-isomaltase deficiency without sucrose intolerance 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_103908 Congenital sodium diarrhea 'Congenital sodium diarrhea' SubClassOf 'Congenital intestinal transport defect' 'Congenital sodium diarrhea' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_103907 Chronic diarrhea due to glucoamylase deficiency 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001245 microcytic anemia 'microcytic anemia' SubClassOf 'anemia' 'microcytic anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0001240 neonatal anemia 'neonatal anemia' SubClassOf 'anemia' 'neonatal anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf 'spondylodysplastic dysplasia' 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800080 http://www.orpha.net/ORDO/Orphanet_269008 Isolated focal cortical dysplasia type IIb 'Isolated focal cortical dysplasia type IIb' SubClassOf 'Isolated focal cortical dysplasia type II' 'Isolated focal cortical dysplasia type IIb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015883 hidrotic ectodermal dysplasia, Halal type 'hidrotic ectodermal dysplasia, Halal type' SubClassOf 'ectodermal dysplasia syndrome' 'hidrotic ectodermal dysplasia, Halal type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0013228 spondylo-megaepiphyseal-metaphyseal dysplasia 'spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'genetic disorder' 'spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800075 http://www.orpha.net/ORDO/Orphanet_269001 Isolated focal cortical dysplasia type IIa 'Isolated focal cortical dysplasia type IIa' SubClassOf 'Isolated focal cortical dysplasia type II' 'Isolated focal cortical dysplasia type IIa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0800092 genetic inflammatory or rheumatoid-like osteoarthropathy 'genetic inflammatory or rheumatoid-like osteoarthropathy' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800093 dysostosis with brachydactyly without extraskeletal manifestations 'dysostosis with brachydactyly without extraskeletal manifestations' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800090 ectrodactyly with and without other manifestations 'ectrodactyly with and without other manifestations' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800091 overgrowth or tall stature syndrome with skeletal involvement 'overgrowth or tall stature syndrome with skeletal involvement' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800096 abnormal mineralization disorder 'abnormal mineralization disorder' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800094 dysostosis with brachydactyly with extraskeletal manifestations 'dysostosis with brachydactyly with extraskeletal manifestations' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800095 syndrome with synostosis or other joint formation defect 'syndrome with synostosis or other joint formation defect' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800089 primary bone dysplasia with disorganized development of skeletal components 'primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800087 type 11 collagen-related bone disorder 'type 11 collagen-related bone disorder' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800088 lysosomal storage disease with skeletal involvement 'lysosomal storage disease with skeletal involvement' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800063 primordial dwarfism and slender bone disorder 'primordial dwarfism and slender bone disorder' SubClassOf 'slender bone dysplasia' 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 'osteogenesis imperfecta' 'osteogenesis imperfecta and a reduction of bone mineral density.' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800080 severe spondylodysplastic dysplasia 'severe spondylodysplastic dysplasia' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0800085 dysostosis with predominant craniofacial involvement 'dysostosis with predominant craniofacial involvement' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800086 primary bone dysplasia with multiple joint dislocations 'primary bone dysplasia with multiple joint dislocations' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800084 primary bone dysplasia with increased bone density 'primary bone dysplasia with increased bone density' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800075 dysostosis with predominant vertebral with and without costal involvement 'dysostosis with predominant vertebral with and without costal involvement' SubClassOf 'skeletal dysplasia' 'dysostosis with predominant vertebral with and without costal involvement' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0800066 polydactyly-syndactyly-triphalangism 'polydactyly-syndactyly-triphalangism' SubClassOf 'synpolydactyly' 'polydactyly-syndactyly-triphalangism' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0021145 obsolete disorder of genitourinary system 'obsolete disorder of genitourinary system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0006089 obsolete appendix goblet cell carcinoid 'obsolete appendix goblet cell carcinoid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/EFO_0700001 PhenoCycler-Fusion 'PhenoCycler-Fusion' SubClassOf 'has_part' some 'PhenoCycler' 'PhenoCycler-Fusion' SubClassOf 'spatial proteomics' http://purl.obolibrary.org/obo/EFO_0700002 PhenoCycler 'PhenoCycler' SubClassOf 'spatial proteomics' http://purl.obolibrary.org/obo/EFO_0700000 spatial proteomics 'spatial proteomics' SubClassOf 'protein assay' http://purl.obolibrary.org/obo/MONDO_0100493 autosomal recessive titinopathy 'autosomal recessive titinopathy' SubClassOf 'TTN-related myopathy' 'autosomal recessive titinopathy' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0100494 autosomal dominant titinopathy 'autosomal dominant titinopathy' SubClassOf 'TTN-related myopathy' 'autosomal dominant titinopathy' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0100464 acid sphingomyelinase deficiency 'acid sphingomyelinase deficiency' SubClassOf 'Niemann-Pick disease' http://purl.obolibrary.org/obo/MONDO_0006832 obsolete limited scleroderma 'obsolete limited scleroderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0006906 obsolete pigmented villonodular synovitis 'obsolete pigmented villonodular synovitis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0700080 EPHB4-associated vascular malformation spectrum 'EPHB4-associated vascular malformation spectrum' SubClassOf 'vascular malformation' 'EPHB4-associated vascular malformation spectrum' SubClassOf 'genetic vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'type 1 diabetes mellitus') 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf 'inherited disease susceptibility' 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf 'predisposes towards' some 'type 1 diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0009971 respiratory distress syndrome in premature infants 'respiratory distress syndrome in premature infants' SubClassOf 'newborn respiratory distress syndrome' http://www.ebi.ac.uk/efo/EFO_0021509 cholate measurement 'cholate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021506 2-hydroxyglutarate measurement '2-hydroxyglutarate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021508 4-hydroxyhippurate measurement '4-hydroxyhippurate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021507 2-hydroxypalmitate measurement '2-hydroxypalmitate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021502 lateral ventricle volume change measurement 'lateral ventricle volume change measurement' SubClassOf 'lateral ventricle volume measurement' http://www.ebi.ac.uk/efo/EFO_0021501 cortical thickness change measurement 'cortical thickness change measurement' SubClassOf 'cortical thickness' http://www.ebi.ac.uk/efo/EFO_0021504 total brain volume change measurement 'total brain volume change measurement' SubClassOf 'whole-brain volume' http://www.ebi.ac.uk/efo/EFO_0021503 cortical surface area change measurement 'cortical surface area change measurement' SubClassOf 'cortical surface area measurement' http://www.ebi.ac.uk/efo/EFO_0021500 cortex volume change measurement 'cortex volume change measurement' SubClassOf 'cerebral cortex volume measurement' http://www.ebi.ac.uk/efo/EFO_0021528 blood barium measurement 'blood barium measurement' SubClassOf 'blood toxic metal measurement' http://www.ebi.ac.uk/efo/EFO_0021527 blood arsenic measurement 'blood arsenic measurement' SubClassOf 'blood toxic metal measurement' http://www.ebi.ac.uk/efo/EFO_0021529 blood rubidium measurement 'blood rubidium measurement' SubClassOf 'blood toxic metal measurement' http://www.ebi.ac.uk/efo/EFO_0021524 non-alcoholic pancreatitis 'non-alcoholic pancreatitis' SubClassOf 'pancreatitis' http://www.ebi.ac.uk/efo/EFO_0021523 examination for neoplasm 'examination for neoplasm' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0021526 4C-seq '4C-seq' SubClassOf 'assay by sequencer' '4C-seq' SubClassOf 'ligation-mediated chromosome conformation capture assay' http://www.ebi.ac.uk/efo/EFO_0021525 renal overload-type gout 'renal overload-type gout' SubClassOf 'gout' http://www.ebi.ac.uk/efo/EFO_0021522 urinary sodium measurement 'urinary sodium measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021521 phenyllactate-to-phenylalanine ratio 'phenyllactate-to-phenylalanine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021517 arachidonate 20:4n6-to-dihomo-linolenate 20:3n3 or n6 ratio 'arachidonate 20:4n6-to-dihomo-linolenate 20:3n3 or n6 ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021519 linoleate 18:2n6-to-X-12442-5,8-tetradecadienoate ratio 'linoleate 18:2n6-to-X-12442-5,8-tetradecadienoate ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021518 linoleate 18:2n6-to-dihomo-linolenate 20:3n3 or n6 ratio 'linoleate 18:2n6-to-dihomo-linolenate 20:3n3 or n6 ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021513 3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio '3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021512 1,7-dimethylurate measurement '1,7-dimethylurate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021515 androsterone sulfate-to-epiandrosterone sulfate ratio 'androsterone sulfate-to-epiandrosterone sulfate ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021514 acetylcarnitine-to-hexanoylcarnitine ratio 'acetylcarnitine-to-hexanoylcarnitine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021511 phenyllactate measurement 'phenyllactate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021510 linoleate 18:2n6 measurement 'linoleate 18:2n6 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021549 2-Aminoethanesulfonic acid measurement '2-Aminoethanesulfonic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021546 1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide measurement '1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021545 1,3,7-trimethyluric acid measurement '1,3,7-trimethyluric acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021548 2-(dimethylamino) guanosine measurement '2-(dimethylamino) guanosine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021547 1,7-Dimethylxanthine measurement '1,7-Dimethylxanthine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021542 (S)-(-)-2-Hydroxyisocaproic acid measurement '(S)-(-)-2-Hydroxyisocaproic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021541 X-11421 measurement 'X-11421 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021544 1,3-Dimethyluric acid measurement '1,3-Dimethyluric acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021543 1-Methylhistidine measurement '1-Methylhistidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021540 X-11255 measurement 'X-11255 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021539 X-11244 measurement 'X-11244 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021538 N-acetylornithine measurement 'N-acetylornithine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021535 response to Par-4 dependent chemotherapy 'response to Par-4 dependent chemotherapy' SubClassOf 'response to antineoplastic agent' http://www.ebi.ac.uk/efo/EFO_0021534 abdominal fat cell number 'abdominal fat cell number' SubClassOf 'adipose tissue measurement' http://www.ebi.ac.uk/efo/EFO_0021537 transferrin glycosylation measurement 'transferrin glycosylation measurement' SubClassOf 'transferrin measurement' http://www.ebi.ac.uk/efo/EFO_0021536 irritable bowel syndrome symptom measurement 'irritable bowel syndrome symptom measurement' SubClassOf 'is_about' some 'irritable bowel syndrome' 'irritable bowel syndrome symptom measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0021531 blood strontium measurement 'blood strontium measurement' SubClassOf 'blood toxic metal measurement' http://www.ebi.ac.uk/efo/EFO_0021530 blood tin measurement 'blood tin measurement' SubClassOf 'blood toxic metal measurement' http://www.ebi.ac.uk/efo/EFO_0021533 blood vanadium measurement 'blood vanadium measurement' SubClassOf 'blood toxic metal measurement' http://www.ebi.ac.uk/efo/EFO_0021532 blood titanium measurement 'blood titanium measurement' SubClassOf 'blood toxic metal measurement' http://www.ebi.ac.uk/efo/EFO_0021568 4-Nitrophenol measurement '4-Nitrophenol measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021567 4-Hydroxybenzaldehyde measurement '4-Hydroxybenzaldehyde measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021569 4-Pyridoxic acid measurement '4-Pyridoxic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021564 3,4,5-Trimethoxycinnamic acid measurement '3,4,5-Trimethoxycinnamic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021563 3,3',5-Triiodo-L-thyronine measurement '3,3',5-Triiodo-L-thyronine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021566 4-Guanidinobutyric acid measurement '4-Guanidinobutyric acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021565 4-Acetamidobutyric acid measurement '4-Acetamidobutyric acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021560 3-Indolepropionic acid measurement '3-Indolepropionic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021562 3-N-Methyl-L-histidine measurement '3-N-Methyl-L-histidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021561 3-Methylcrotonyl glycine measurement '3-Methylcrotonyl glycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021557 3-Hydroxy-3-methyl butyric acid measurement '3-Hydroxy-3-methyl butyric acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021556 3-(3-hydroxyphenyl) propionate acid measurement '3-(3-hydroxyphenyl) propionate acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021559 3-Indolebutyric acid measurement '3-Indolebutyric acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021558 3-Hydroxyhippuric acid (m-Hydroxyhippuricacid) measurement '3-Hydroxyhippuric acid (m-Hydroxyhippuricacid) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021553 2-Picolinic acid measurement '2-Picolinic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021552 2-Methylsuccinic acid measurement '2-Methylsuccinic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021555 2,6-Diaminooimelic acid measurement '2,6-Diaminooimelic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021554 2,3-dimethylsuccinic acid measurement '2,3-dimethylsuccinic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021551 2-Hydroxyisocaproic acid measurement '2-Hydroxyisocaproic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021550 2-Hydroxybutanoic acid measurement '2-Hydroxybutanoic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021589 D-Mannose measurement 'D-Mannose measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021586 D-Glucose measurement 'D-Glucose measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021585 D-Glucopyranose measurement 'D-Glucopyranose measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021588 D-Malic acid measurement 'D-Malic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021587 D-Lactic acid measurement 'D-Lactic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021582 D-Arabinose measurement 'D-Arabinose measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021581 D-2-Aminobutyric acid measurement 'D-2-Aminobutyric acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021584 D-Fructose measurement 'D-Fructose measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021583 D-Erythronolactone measurement 'D-Erythronolactone measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021580 Cyclic AMP measurement 'Cyclic AMP measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021579 Creatine measurement 'Creatine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021578 Caffeic acid measurement 'Caffeic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021575 Adipic acid measurement 'Adipic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021574 Adenosine 5'-monophosphate measurement 'Adenosine 5'-monophosphate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021577 Azelaic acid measurement 'Azelaic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021576 Asp-phe measurement 'Asp-phe measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021571 5'-Deoxy-5'-(methylthio) adenosine measurement '5'-Deoxy-5'-(methylthio) adenosine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021570 5-Methyluridine measurement '5-Methyluridine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021573 Adenine measurement 'Adenine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021572 9,10-dihome measurement '9,10-dihome measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021597 Eudesmic acid (3,4,5-trimethoxybenzoic acid) measurement 'Eudesmic acid (3,4,5-trimethoxybenzoic acid) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021596 Dulcitol measurement 'Dulcitol measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021599 Glycochenodeoxycholic acid measurement 'Glycochenodeoxycholic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021598 Gluconic acid measurement 'Gluconic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021593 Deoxycholic acid measurement 'Deoxycholic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021592 D-Trehalose measurement 'D-Trehalose measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021595 Dodecanedioic aicd measurement 'Dodecanedioic aicd measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021594 DL-P-hydroxyphenyllactic acid measurement 'DL-P-hydroxyphenyllactic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021591 D-Sucrose measurement 'D-Sucrose measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021590 D-Sorbitol measurement 'D-Sorbitol measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021447 cholesteryl ester 24:4 measurement 'cholesteryl ester 24:4 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021446 cholesteryl ester 24:1 measurement 'cholesteryl ester 24:1 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021449 cholesteryl ester 24:6 measurement 'cholesteryl ester 24:6 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021448 cholesteryl ester 24:5 measurement 'cholesteryl ester 24:5 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021443 cholesteryl ester 22:4 measurement 'cholesteryl ester 22:4 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021442 cholesteryl ester 22:1 measurement 'cholesteryl ester 22:1 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021445 cholesteryl ester 24:0 measurement 'cholesteryl ester 24:0 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021444 cholesteryl ester 22:5 measurement 'cholesteryl ester 22:5 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021441 cholesteryl ester 22:0 measurement 'cholesteryl ester 22:0 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021440 cholesteryl ester 20:2 measurement 'cholesteryl ester 20:2 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021439 cholesteryl ester 20:1 measurement 'cholesteryl ester 20:1 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021436 cholesteryl ester 17:0 measurement 'cholesteryl ester 17:0 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021435 cholesteryl ester 16:2 measurement 'cholesteryl ester 16:2 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021438 cholesteryl ester 20:0 measurement 'cholesteryl ester 20:0 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021437 cholesteryl ester 17:1 measurement 'cholesteryl ester 17:1 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021434 cholesteryl ester 15:0 measurement 'cholesteryl ester 15:0 measurement' SubClassOf 'cholesteryl ester measurement' http://www.ebi.ac.uk/efo/EFO_0021469 phosphatidylcholine 33:1 measurement 'phosphatidylcholine 33:1 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021468 phosphatidylcholine 33:0 measurement 'phosphatidylcholine 33:0 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021465 lysophosphatidylethanolamine 17:0 measurement 'lysophosphatidylethanolamine 17:0 measurement' SubClassOf 'lysophosphatidylethanolamine measurement' http://www.ebi.ac.uk/efo/EFO_0021464 lysophosphatidylcholine 26:0 measurement 'lysophosphatidylcholine 26:0 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021467 phosphatidylcholine 31:0 measurement 'phosphatidylcholine 31:0 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021466 phosphatidylcholine 28:0 measurement 'phosphatidylcholine 28:0 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021461 lysophosphatidylcholine 22:4 measurement 'lysophosphatidylcholine 22:4 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021460 lysophosphatidylcholine 22:1 measurement 'lysophosphatidylcholine 22:1 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021463 lysophosphatidylcholine 24:0 measurement 'lysophosphatidylcholine 24:0 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021462 lysophosphatidylcholine 22:5 measurement 'lysophosphatidylcholine 22:5 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021458 lysophosphatidylcholine 20:2 measurement 'lysophosphatidylcholine 20:2 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021457 lysophosphatidylcholine 20:1 measurement 'lysophosphatidylcholine 20:1 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021459 lysophosphatidylcholine 22:0 measurement 'lysophosphatidylcholine 22:0 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021454 lysophosphatidylcholine 18:3 measurement 'lysophosphatidylcholine 18:3 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021453 lysophosphatidylcholine 17:1 measurement 'lysophosphatidylcholine 17:1 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021456 lysophosphatidylcholine 20:0 measurement 'lysophosphatidylcholine 20:0 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021455 lysophosphatidylcholine 19:0 measurement 'lysophosphatidylcholine 19:0 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021450 GM1 ganglioside measurement 'GM1 ganglioside measurement' SubClassOf 'sphingolipid measurement' http://www.ebi.ac.uk/efo/EFO_0021452 lysophosphatidylcholine 17:0 measurement 'lysophosphatidylcholine 17:0 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021451 GM3 ganglioside measurement 'GM3 ganglioside measurement' SubClassOf 'sphingolipid measurement' http://www.ebi.ac.uk/efo/EFO_0021487 cryptic phenotype measurement 'cryptic phenotype measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0021486 ubiquinone measurement 'ubiquinone measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0021489 treprostinil dose measurement 'treprostinil dose measurement' SubClassOf 'drug use measurement' http://www.ebi.ac.uk/efo/EFO_0021488 urinary 6‑hydroxymelatonin sulfate to creatinine ratio 'urinary 6‑hydroxymelatonin sulfate to creatinine ratio' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021483 triacylglycerol 51:2 measurement 'triacylglycerol 51:2 measurement' SubClassOf 'triglyceride measurement' http://www.ebi.ac.uk/efo/EFO_0021482 triacylglycerol 51:1 measurement 'triacylglycerol 51:1 measurement' SubClassOf 'triglyceride measurement' http://www.ebi.ac.uk/efo/EFO_0021485 triacylglycerol 54:0 measurement 'triacylglycerol 54:0 measurement' SubClassOf 'triglyceride measurement' http://www.ebi.ac.uk/efo/EFO_0021484 triacylglycerol 53:2 measurement 'triacylglycerol 53:2 measurement' SubClassOf 'triglyceride measurement' http://www.ebi.ac.uk/efo/EFO_0021481 triacylglycerol 51:0 measurement 'triacylglycerol 51:0 measurement' SubClassOf 'triglyceride measurement' http://www.ebi.ac.uk/efo/EFO_0021480 triacylglycerol 50:0 measurement 'triacylglycerol 50:0 measurement' SubClassOf 'triglyceride measurement' http://www.ebi.ac.uk/efo/EFO_0021479 triacylglycerol 49:1 measurement 'triacylglycerol 49:1 measurement' SubClassOf 'triglyceride measurement' http://www.ebi.ac.uk/efo/EFO_0021476 phosphatidylcholine 39:5 measurement 'phosphatidylcholine 39:5 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021475 phosphatidylcholine 38:7 measurement 'phosphatidylcholine 38:7 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021478 phosphatidylcholine 40:8 measurement 'phosphatidylcholine 40:8 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021477 phosphatidylcholine 40:7 measurement 'phosphatidylcholine 40:7 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021472 phosphatidylcholine 35:5 measurement 'phosphatidylcholine 35:5 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021471 phosphatidylcholine 34:5 measurement 'phosphatidylcholine 34:5 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021474 phosphatidylcholine 36:6 measurement 'phosphatidylcholine 36:6 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021473 phosphatidylcholine 36:0 measurement 'phosphatidylcholine 36:0 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021470 phosphatidylcholine 33:2 measurement 'phosphatidylcholine 33:2 measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0021498 cerebellum white matter volume change measurement 'cerebellum white matter volume change measurement' SubClassOf 'white matter volume measurement' http://www.ebi.ac.uk/efo/EFO_0021497 cerebellum cortex volume change measurement 'cerebellum cortex volume change measurement' SubClassOf 'cerebellar cortex volume measurement' http://www.ebi.ac.uk/efo/EFO_0021499 cerebral white matter volume change measurement 'cerebral white matter volume change measurement' SubClassOf 'white matter volume measurement' http://www.ebi.ac.uk/efo/EFO_0021494 pallidum volume change measurement 'pallidum volume change measurement' SubClassOf 'pallidum volume' http://www.ebi.ac.uk/efo/EFO_0021493 nucleus accumbens volume change measurement 'nucleus accumbens volume change measurement' SubClassOf 'nucleus accumbens volume' http://www.ebi.ac.uk/efo/EFO_0021496 thalamus volume change measurement 'thalamus volume change measurement' SubClassOf 'thalamus volume' http://www.ebi.ac.uk/efo/EFO_0021495 putamen volume change measurement 'putamen volume change measurement' SubClassOf 'putamen volume' http://www.ebi.ac.uk/efo/EFO_0021490 amygdala volume change measurement 'amygdala volume change measurement' SubClassOf 'amygdala volume' http://www.ebi.ac.uk/efo/EFO_0021492 hippocampus volume change measurement 'hippocampus volume change measurement' SubClassOf 'hippocampal volume' http://www.ebi.ac.uk/efo/EFO_0021491 caudate volume change measurement 'caudate volume change measurement' SubClassOf 'caudate nucleus volume' http://www.ebi.ac.uk/efo/EFO_0021748 3-Indolepropionic acid to SubericAcid ratio '3-Indolepropionic acid to SubericAcid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021747 3-Indolepropionic acid to N,N-Dimethylglycine ratio '3-Indolepropionic acid to N,N-Dimethylglycine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021749 3-Indolepropionic acid to 2-(dimethylamino) guanosine ratio '3-Indolepropionic acid to 2-(dimethylamino) guanosine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021744 3-Indolepropionic acid to Creatinine ratio '3-Indolepropionic acid to Creatinine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021743 3-Indolepropionic acid to (S)-(-)-2-Hydroxyisocaproic acid ratio '3-Indolepropionic acid to (S)-(-)-2-Hydroxyisocaproic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021746 3-Indolepropionic acid to gamma-Linolenic acid (C18:3n6) ratio '3-Indolepropionic acid to gamma-Linolenic acid (C18:3n6) ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021745 L-Pyroglutamic acid to 3-Indolepropionic acid ratio 'L-Pyroglutamic acid to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021740 3-Indolepropionic acid to 4-Pyridoxic acid ratio '3-Indolepropionic acid to 4-Pyridoxic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021742 3-Indolepropionic acid to 3-Hydroxybutyrate ratio '3-Indolepropionic acid to 3-Hydroxybutyrate ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021741 3-Indolepropionic acid to L-Pipecolic acid ratio '3-Indolepropionic acid to L-Pipecolic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021737 3-Indolepropionic acid to L-Arginine ratio '3-Indolepropionic acid to L-Arginine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021736 3-Indolepropionic acid to LysoPC 20:1 ratio '3-Indolepropionic acid to LysoPC 20:1 ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021739 3-Indolepropionic acid to 2-Hydroxyisocaproic acid ratio '3-Indolepropionic acid to 2-Hydroxyisocaproic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021738 3-Indolepropionic acid to Kynurenic acid ratio '3-Indolepropionic acid to Kynurenic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021733 3-Indolepropionic acid to 1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide ratio '3-Indolepropionic acid to 1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021732 3-Indolepropionic acid to L-Carnitine ratio '3-Indolepropionic acid to L-Carnitine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021735 3-Indolepropionic acid to Dodecanedioic aicd ratio '3-Indolepropionic acid to Dodecanedioic aicd ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021734 3-Indolepropionic acid to Creatine ratio '3-Indolepropionic acid to Creatine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021731 3-Indolepropionic acid to Cyclic AMP ratio '3-Indolepropionic acid to Cyclic AMP ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021730 L-Cystine to 3-Indolepropionic acid ratio 'L-Cystine to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021769 3-Indolepropionic acid to Myoinositol ratio '3-Indolepropionic acid to Myoinositol ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021766 3-Indolepropionic acid to Lauric acid ratio '3-Indolepropionic acid to Lauric acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021765 Pantothenate to 3-Indolepropionic acid ratio 'Pantothenate to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021768 N-acetyl-l-leucine to 3-Indolepropionic acid ratio 'N-acetyl-l-leucine to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021767 3-Indolepropionic acid to Homovanillic acid ratio '3-Indolepropionic acid to Homovanillic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021762 Dulcitol to 3-Indolepropionic acid ratio 'Dulcitol to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021761 3-Indolepropionic acid to beta-Pseudouridine ratio '3-Indolepropionic acid to beta-Pseudouridine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021764 3-Indolepropionic acid to Indole-5-carboxylic acid ratio '3-Indolepropionic acid to Indole-5-carboxylic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021763 3-Indolepropionic acid to 4-Nitrophenol ratio '3-Indolepropionic acid to 4-Nitrophenol ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021760 3-Indolepropionic acid to LysoPC 20:0 ratio '3-Indolepropionic acid to LysoPC 20:0 ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021759 3-Indolepropionic acid to S-Sulfo-L-cysteine ratio '3-Indolepropionic acid to S-Sulfo-L-cysteine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021758 3-Indolepropionic acid to alpha-Linolenic acid (C18:3n3) ratio '3-Indolepropionic acid to alpha-Linolenic acid (C18:3n3) ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021755 L-Proline to 3-Indolepropionic acid ratio 'L-Proline to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021754 3-Indolepropionic acid to Hypoxanthine ratio '3-Indolepropionic acid to Hypoxanthine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021757 3-Indolepropionic acid to Methylmalonic acid ratio '3-Indolepropionic acid to Methylmalonic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021756 D-Trehalose to 3-Indolepropionic acid ratio 'D-Trehalose to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021751 3-Indolepropionic acid to 4-Hydroxybenzaldehyde ratio '3-Indolepropionic acid to 4-Hydroxybenzaldehyde ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021750 3-Indolepropionic acid to LysoPC 14:0 ratio '3-Indolepropionic acid to LysoPC 14:0 ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021753 3-Indolepropionic acid to cis-5,8,11,14,17-Eicosapentaenoic acid C20:5n3) ratio '3-Indolepropionic acid to cis-5,8,11,14,17-Eicosapentaenoic acid C20:5n3) ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021752 3-Indolepropionic acid to Azelaic acid ratio '3-Indolepropionic acid to Azelaic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021776 osteopontin measurement 'osteopontin measurement' SubClassOf 'glycoprotein measurement' http://www.ebi.ac.uk/efo/EFO_0021773 D-Malic acid to 3-Indolepropionic acid ratio 'D-Malic acid to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021772 3-Indolepropionic acid to Maltose ratio '3-Indolepropionic acid to Maltose ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021774 D-Sucrose to 3-Indolepropionic acid ratio 'D-Sucrose to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021771 Riboflavin to 3-Indolepropionic acid ratio 'Riboflavin to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021770 3-Indolepropionic acid to Urocanic acid (RG) ratio '3-Indolepropionic acid to Urocanic acid (RG) ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021708 L-Glutamic acid to 3-Indolepropionic acid ratio 'L-Glutamic acid to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021707 3-Indolepropionic acid to Choline ratio '3-Indolepropionic acid to Choline ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021709 L-Serine to 3-Indolepropionic acid ratio 'L-Serine to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021704 3-Indolepropionic acid to Uric acid ratio '3-Indolepropionic acid to Uric acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021703 3-Indolepropionic acid to Trimethylamine N-oxide ratio '3-Indolepropionic acid to Trimethylamine N-oxide ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021706 3-Indolepropionic acid to Sarcosine ratio '3-Indolepropionic acid to Sarcosine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021705 3-Indolepropionic acid to D-Fructose ratio '3-Indolepropionic acid to D-Fructose ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021700 3-Indolepropionic acid to N6-Acetyl-L-lysine ratio '3-Indolepropionic acid to N6-Acetyl-L-lysine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021702 L-Aspartic acid to 3-Indolepropionic acid ratio 'L-Aspartic acid to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021701 L-Thyroxine to 3-Indolepropionic acid ratio 'L-Thyroxine to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021729 3-Indolepropionic acid to N-Acetyl-L-tyrosine ratio '3-Indolepropionic acid to N-Acetyl-L-tyrosine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021726 3-Indolepropionic acid to Isonicotinamide ratio '3-Indolepropionic acid to Isonicotinamide ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021725 3-Indolepropionic acid to 4-Guanidinobutyric acid ratio '3-Indolepropionic acid to 4-Guanidinobutyric acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021728 3-Indolepropionic acid to N-acetylglycine ratio '3-Indolepropionic acid to N-acetylglycine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021727 5-Methyluridine to 3-Indolepropionic acid ratio '5-Methyluridine to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021722 3-Indolepropionic acid to 2-Picolinic acid ratio '3-Indolepropionic acid to 2-Picolinic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021721 3-Indolepropionic acid to L-2-Aminobutyric acid ratio '3-Indolepropionic acid to L-2-Aminobutyric acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021724 3-Indolepropionic acid to LysoPC 20:2 ratio '3-Indolepropionic acid to LysoPC 20:2 ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021723 3-Indolepropionic acid to 2-Methylsuccinic acid ratio '3-Indolepropionic acid to 2-Methylsuccinic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021720 3-Indolepropionic acid to LysoPC 18:0 ratio '3-Indolepropionic acid to LysoPC 18:0 ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021719 3-Indolepropionic acid to Kinurenine ratio '3-Indolepropionic acid to Kinurenine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021718 L-Asparagine Anhydrous to 3-Indolepropionic acid ratio 'L-Asparagine Anhydrous to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021715 L-Citrulline to 3-Indolepropionic acid ratio 'L-Citrulline to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021714 3-Indolepropionic acid to Pipecolinic acid ratio '3-Indolepropionic acid to Pipecolinic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021717 3-Indolepropionic acid to 5-oxoproline ratio '3-Indolepropionic acid to 5-oxoproline ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021716 3-Indolepropionic acid to L-Saccharopine ratio '3-Indolepropionic acid to L-Saccharopine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021711 3-Indolepropionic acid to D-2-Aminobutyric acid ratio '3-Indolepropionic acid to D-2-Aminobutyric acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021710 3-Indolepropionic acid to S-(5-Adenosy) -L-homocysteine ratio '3-Indolepropionic acid to S-(5-Adenosy) -L-homocysteine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021713 3-Indolepropionic acid to Hippuric acid ratio '3-Indolepropionic acid to Hippuric acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021712 3-Indolepropionic acid to LysoPC 16:1 ratio '3-Indolepropionic acid to LysoPC 16:1 ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021627 L-Proline measurement 'L-Proline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021626 L-Pipecolic acid measurement 'L-Pipecolic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021629 L-Saccharopine measurement 'L-Saccharopine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021628 L-Pyroglutamic acid measurement 'L-Pyroglutamic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021623 L-Methionine measurement 'L-Methionine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021622 L-Malic acid measurement 'L-Malic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021625 L-Phenylalanine measurement 'L-Phenylalanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021624 L-Ornithine measurement 'L-Ornithine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021621 L-Lysine measurement 'L-Lysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021620 L-Leucine measurement 'L-Leucine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021619 L-Isoleucine measurement 'L-Isoleucine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021616 L-Glutamic acid measurement 'L-Glutamic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021615 L-Cystine measurement 'L-Cystine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021618 L-Histidine measurement 'L-Histidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021617 L-Glutamine measurement 'L-Glutamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021612 L-Carnitine measurement 'L-Carnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021611 L-Aspartic acid measurement 'L-Aspartic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021614 L-Cysteine measurement 'L-Cysteine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021613 L-Citrulline measurement 'L-Citrulline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021610 L-Asparagine anhydrous measurement 'L-Asparagine anhydrous measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021649 Maltose measurement 'Maltose measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021648 LysoPE 18:1 measurement 'LysoPE 18:1 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021645 LysoPC 20:2 measurement 'LysoPC 20:2 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021644 LysoPC 20:1 measurement 'LysoPC 20:1 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021647 LysoPE 16:0 measurement 'LysoPE 16:0 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021646 LysoPE 14:0 measurement 'LysoPE 14:0 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021641 LysoPC 18:0 measurement 'LysoPC 18:0 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021640 LysoPC 16:1 measurement 'LysoPC 16:1 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021643 LysoPC 20:0 measurement 'LysoPC 20:0 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021642 LysoPC 18:1 measurement 'LysoPC 18:1 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021638 LysoPC 14:0 measurement 'LysoPC 14:0 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021637 LysoPA 16:0 measurement 'LysoPA 16:0 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021639 LysoPC 16:0 measurement 'LysoPC 16:0 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021634 L-Tyrosine measurement 'L-Tyrosine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021633 L-Tryptophan measurement 'L-Tryptophan measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021636 Lauric acid measurement 'Lauric acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021635 L-Valine measurement 'L-Valine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021630 L-Serine measurement 'L-Serine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021632 L-Thyroxine measurement 'L-Thyroxine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021631 L-Threonine measurement 'L-Threonine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021667 S-Sulfo-L-cysteine measurement 'S-Sulfo-L-cysteine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021666 S-(5-Adenosy)-L-homocysteine measurement 'S-(5-Adenosy)-L-homocysteine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021669 Succinic acid measurement 'Succinic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021668 Sarcosine measurement 'Sarcosine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021663 Phenylpyruvic acid measurement 'Phenylpyruvic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021662 Phenyllactate (PLA) measurement 'Phenyllactate (PLA) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021665 Riboflavin measurement 'Riboflavin measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021664 Pipecolinic acid measurement 'Pipecolinic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021661 Phenylacetyl-L-glutamine measurement 'Phenylacetyl-L-glutamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021660 Palmitic acid measurement 'Palmitic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021659 Palmitaldehyde measurement 'Palmitaldehyde measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0025370 obsolete urogenital neoplasm 'obsolete urogenital neoplasm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0021656 N6-Acetyl-L-lysine measurement 'N6-Acetyl-L-lysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021655 N,N-Dimethylglycine measurement 'N,N-Dimethylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021658 p-Hydroxyphenyl acetic acid measurement 'p-Hydroxyphenyl acetic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021657 N6-Succinyl adenosine measurement 'N6-Succinyl adenosine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021652 Myoinositol measurement 'Myoinositol measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021651 Methylmalonic acid measurement 'Methylmalonic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021654 N-Acetyl-L-tyrosine measurement 'N-Acetyl-L-tyrosine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021653 N-acetyl-l-leucine measurement 'N-acetyl-l-leucine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021650 Methionine sulfoxide measurement 'Methionine sulfoxide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021689 3-Indolepropionic acid to L-Ornithine ratio '3-Indolepropionic acid to L-Ornithine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021688 3-Indolepropionic acid to Phenylpyruvic acid ratio '3-Indolepropionic acid to Phenylpyruvic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021685 3-Indolepropionic acid to L-Methionine ratio '3-Indolepropionic acid to L-Methionine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021684 3-Indolepropionic acid to Adenine ratio '3-Indolepropionic acid to Adenine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021687 3-Indolepropionic acid to L-Tyrosine ratio '3-Indolepropionic acid to L-Tyrosine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021686 L-Phenylalanine to 3-Indolepropionic acid ratio 'L-Phenylalanine to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021681 L-Tryptophan to 3-Indolepropionic acid ratio 'L-Tryptophan to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021680 Cis-5,8,11,14,17-eicosapentaenoic acid (C20:5n3) to LysoPC 20:2 ratio 'Cis-5,8,11,14,17-eicosapentaenoic acid (C20:5n3) to LysoPC 20:2 ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021683 3-Indolepropionic acid to Uridine ratio '3-Indolepropionic acid to Uridine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021682 3-Indolepropionic acid to L-Lysine ratio '3-Indolepropionic acid to L-Lysine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021678 beta-Pseudouridine measurement 'beta-Pseudouridine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021677 beta-Nicotinamide mononucleotide measurement 'beta-Nicotinamide mononucleotide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021679 L-Histidine to Uric acid ratio 'L-Histidine to Uric acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021674 trans,trans-Muconic acid measurement 'trans,trans-Muconic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021673 Theobromine measurement 'Theobromine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021676 Urocanic acid (RG) measurement 'Urocanic acid (RG) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021675 Uridine 5-monophosphate measurement 'Uridine 5-monophosphate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021670 Taurochenodesoxycholic acid measurement 'Taurochenodesoxycholic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021672 Tauroursodeoxycholic acid measurement 'Tauroursodeoxycholic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021671 Taurocholic acid sodium salt hydrate measurement 'Taurocholic acid sodium salt hydrate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021699 3-Indolepropionic acid to LysoPC 18:1 ratio '3-Indolepropionic acid to LysoPC 18:1 ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021696 D-Arabinose to 3-Indolepropionic acid ratio 'D-Arabinose to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021695 3-Indolepropionic acid to 3,3',5-Triiodo-L-thyronine ratio '3-Indolepropionic acid to 3,3',5-Triiodo-L-thyronine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021698 L-Threonine to 3-Indolepropionic acid ratio 'L-Threonine to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021697 3-Indolepropionic acid to LysoPC 16:0 ratio '3-Indolepropionic acid to LysoPC 16:0 ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021692 3-Indolepropionic acid to L-Valine ratio '3-Indolepropionic acid to L-Valine ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021691 3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio '3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021694 L-Histidine to 3-Indolepropionic acid ratio 'L-Histidine to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021693 Asp-phe to 3-Indolepropionic acid ratio 'Asp-phe to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021690 L-Glutamine to 3-Indolepropionic acid ratio 'L-Glutamine to 3-Indolepropionic acid ratio' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021609 L-3-Phenyllactic acid measurement 'L-3-Phenyllactic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021608 L-2-Aminobutyric acid measurement 'L-2-Aminobutyric acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021605 Indole-5-carboxylic acid measurement 'Indole-5-carboxylic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021604 Hypoxanthine measurement 'Hypoxanthine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021607 Isonicotinamide measurement 'Isonicotinamide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021606 Inositol measurement 'Inositol measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021601 Hexanoyl glycine measurement 'Hexanoyl glycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021600 Glycoursodeoxycholic acid measurement 'Glycoursodeoxycholic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021603 Hydrocinnamic acid measurement 'Hydrocinnamic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0021602 Homovanillic acid measurement 'Homovanillic acid measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0021659 combined carcinoid and adenocarcinoma 'combined carcinoid and adenocarcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0020495 peho-like syndrome 'peho-like syndrome' SubClassOf 'genetic nervous system disorder'