Ontology Diff Summary Diff date: 2022/12/05 21:19:07 First ontology URI: /mnt/c/Users/dlagorce/Orphanet/ORDO/ORDO_JUNE2022/OWL/ORDO_en_4.1.owl Second ontology URI: /mnt/c/Users/dlagorce/Orphanet/ORDO/ORDO_DEC2022/orphadata/ORDO_en_4.2.owl Number of classes changed: 8613 Number of classes added: 113 Number of classes deleted: 176 ################ @Classes modified from previous Class: http://www.orpha.net/ORDO/Orphanet_329224 Label(s): Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome + 'Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_139466 Label(s): SERKAL syndrome + 'SERKAL syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XX disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_98726 Label(s): OBSOLETE: Pulmonary artery/pulmonary branch anomaly + 'OBSOLETE: Pulmonary artery/pulmonary branch anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pulmonary artery or pulmonary branch anomaly' Class: http://www.orpha.net/ORDO/Orphanet_180237 Label(s): Benign tumor of fallopian tubes + 'Benign tumor of fallopian tubes' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare uterine adnexal tumor' Class: http://www.orpha.net/ORDO/Orphanet_410100 Label(s): Italy - 'Italy' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_180234 Label(s): Mixed germ cell tumor + 'Mixed germ cell tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal non-dysgerminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_166427 Label(s): Startle epilepsy + 'Startle epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Reflex epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1369 Label(s): Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome + 'Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial substrate carrier disorder' + 'Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' + 'Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_329217 Label(s): Cerebral sinovenous thrombosis + 'Cerebral sinovenous thrombosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_576349 Label(s): NLRC4-related familial cold autoinflammatory syndrome + 'NLRC4-related familial cold autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'NLRC4-related familial cold autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary periodic fever syndrome' + 'NLRC4-related familial cold autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_300530 Label(s): Pseudohypoaldosteronism type 2E + 'Pseudohypoaldosteronism type 2E' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoaldosteronism type 2' Class: http://www.orpha.net/ORDO/Orphanet_319558 Label(s): Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_98714 Label(s): OBSOLETE: Metabolic disease with macular cherry-red spot + 'OBSOLETE: Metabolic disease with macular cherry-red spot' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_98713 Label(s): OBSOLETE: Metabolic disease with pigmentary retinitis + 'OBSOLETE: Metabolic disease with pigmentary retinitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_98712 Label(s): OBSOLETE: Metabolic disease with cataract + 'OBSOLETE: Metabolic disease with cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Metabolic disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_98711 Label(s): OBSOLETE: Metabolic disease with corneal opacity + 'OBSOLETE: Metabolic disease with corneal opacity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_98710 Label(s): OBSOLETE: Metabolic disease associated with ocular features + 'OBSOLETE: Metabolic disease associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_1600 Label(s): Monosomy 18q + 'Monosomy 18q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 18' + 'Monosomy 18q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Monosomy 18q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_180229 Label(s): Polyembryoma + 'Polyembryoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal non-dysgerminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_180226 Label(s): Embryonal carcinoma + 'Embryonal carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal non-dysgerminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_679 Label(s): Malignant atrophic papulosis + 'Malignant atrophic papulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Malignant atrophic papulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Malignant atrophic papulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'Malignant atrophic papulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_98167 Label(s): OBSOLETE: Diabetes associated to exocrine pancreas neoplasia + 'OBSOLETE: Diabetes associated to exocrine pancreas neoplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Other rare diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_420259 Label(s): Secondary pulmonary alveolar proteinosis + 'Secondary pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease in childhood and adulthood' Class: http://www.orpha.net/ORDO/Orphanet_300525 Label(s): Pseudohypoaldosteronism type 2D + 'Pseudohypoaldosteronism type 2D' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoaldosteronism type 2' Class: http://www.orpha.net/ORDO/Orphanet_329206 Label(s): OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome + 'OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_99900 Label(s): Long chain acyl-CoA dehydrogenase deficiency + 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Very long chain acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_98709 Label(s): OBSOLETE: Ectodermal malformation syndrome associated with ocular features + 'OBSOLETE: Ectodermal malformation syndrome associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the visual organs' Class: http://www.orpha.net/ORDO/Orphanet_98708 Label(s): OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism + 'OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pigmentation anomaly of the skin' Class: http://www.orpha.net/ORDO/Orphanet_502366 Label(s): Squamous cell carcinoma of the lip + 'Squamous cell carcinoma of the lip' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Squamous cell carcinoma of oral cavity and lip' Class: http://www.orpha.net/ORDO/Orphanet_2248 Label(s): Hypoplastic left heart syndrome + 'Hypoplastic left heart syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Univentricular cardiopathy' Class: http://www.orpha.net/ORDO/Orphanet_98704 Label(s): OBSOLETE: Onycho-patellar syndrome with eye involvement + 'OBSOLETE: Onycho-patellar syndrome with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Nail-patella syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98703 Label(s): OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features + 'OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98702 Label(s): OBSOLETE: Connective tissue disease with eye involvement + 'OBSOLETE: Connective tissue disease with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the visual organs' Class: http://www.orpha.net/ORDO/Orphanet_98701 Label(s): OBSOLETE: Phakomatosis with eye involvement + 'OBSOLETE: Phakomatosis with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_98700 Label(s): OBSOLETE: Pigmentation disorder with eye involvement + 'OBSOLETE: Pigmentation disorder with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pigmentation anomaly of the skin' Class: http://www.orpha.net/ORDO/Orphanet_458803 Label(s): Spinocerebellar ataxia type 42 + 'Spinocerebellar ataxia type 42' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type III' + 'Spinocerebellar ataxia type 42' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic calcium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_206985 Label(s): OBSOLETE: Drug and/or toxic myopathy + 'OBSOLETE: Drug and/or toxic myopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_300512 Label(s): Onychomatricoma + 'Onychomatricoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nail tumor' Class: http://www.orpha.net/ORDO/Orphanet_464370 Label(s): Neonatal alloimmune neutropenia + 'Neonatal alloimmune neutropenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_155878 Label(s): Submucosal cleft palate + 'Submucosal cleft palate' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleft palate' Class: http://www.orpha.net/ORDO/Orphanet_95501 Label(s): OBSOLETE: Congenital central diabetes insipidus + 'OBSOLETE: Congenital central diabetes insipidus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central diabetes insipidus' Class: http://www.orpha.net/ORDO/Orphanet_228236 Label(s): Linear focal elastosis + 'Linear focal elastosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_157962 Label(s): Oculoauricular syndrome, Schorderet type + 'Oculoauricular syndrome, Schorderet type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_1373 Label(s): Cataract-aberrant oral frenula-growth delay syndrome + 'Cataract-aberrant oral frenula-growth delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cataract-aberrant oral frenula-growth delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Cataract-aberrant oral frenula-growth delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cataract-aberrant oral frenula-growth delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_158661 Label(s): OBSOLETE: Suprabasal epidermolysis bullosa simplex + 'OBSOLETE: Suprabasal epidermolysis bullosa simplex' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Epidermolysis bullosa simplex' Class: http://www.orpha.net/ORDO/Orphanet_64545 Label(s): Benign idiopathic neonatal seizures + 'Benign idiopathic neonatal seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_64542 Label(s): Acrofacial dysostosis, Kennedy-Teebi type + 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231450 Label(s): Acute pure sensory neuropathy + 'Acute pure sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional variant of Guillain-Barré syndrome' Class: http://www.orpha.net/ORDO/Orphanet_464366 Label(s): NEK9-related lethal skeletal dysplasia + 'NEK9-related lethal skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' + 'NEK9-related lethal skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathies with major skeletal involvement' + 'NEK9-related lethal skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathy' Class: http://www.orpha.net/ORDO/Orphanet_209004 Label(s): Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy + 'Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peripheral neuropathy associated with monoclonal gammopathy' Class: http://www.orpha.net/ORDO/Orphanet_30391 Label(s): Isolated biliary atresia + 'Isolated biliary atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Biliary atresia and associated disorders' + 'Isolated biliary atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic visceral malformation' + 'Isolated biliary atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_300504 Label(s): Onychocytic matricoma + 'Onychocytic matricoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nail tumor' Class: http://www.orpha.net/ORDO/Orphanet_859 Label(s): Transcobalamin deficiency + 'Transcobalamin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Transcobalamin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of cobalamin metabolism and transport' + 'Transcobalamin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_300501 Label(s): Painful orbital and systemic neurofibromas-marfanoid habitus syndrome + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign peripheral nerve sheath tumor' Class: http://www.orpha.net/ORDO/Orphanet_139426 Label(s): Perioral myoclonia with absences + 'Perioral myoclonia with absences' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139423 Label(s): Idiopathic acute transverse myelitis + 'Idiopathic acute transverse myelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute transverse myelitis' Class: http://www.orpha.net/ORDO/Orphanet_139420 Label(s): OBSOLETE: Secondary acute transverse myelitis + 'OBSOLETE: Secondary acute transverse myelitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acute transverse myelitis' Class: http://www.orpha.net/ORDO/Orphanet_99916 Label(s): Malignant Sertoli-Leydig cell tumor of the ovary + 'Malignant Sertoli-Leydig cell tumor of the ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant sex cord stromal tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_502444 Label(s): Alkaline ceramidase 3 deficiency + 'Alkaline ceramidase 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Alkaline ceramidase 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_295002 Label(s): Hyperphalangy + 'Hyperphalangy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_464359 Label(s): Benign metanephric tumor + 'Benign metanephric tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tumor' Class: http://www.orpha.net/ORDO/Orphanet_410122 Label(s): Macedonia, the former Yugoslav Republic of - 'Macedonia, the former Yugoslav Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_231457 Label(s): Acute pandysautonomia + 'Acute pandysautonomia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional variant of Guillain-Barré syndrome' Class: http://www.orpha.net/ORDO/Orphanet_410125 Label(s): Malaysia - 'Malaysia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_314889 Label(s): Autosomal dominant proximal renal tubular acidosis + 'Autosomal dominant proximal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Proximal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_410128 Label(s): Malta - 'Malta' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_139417 Label(s): Acute transverse myelitis + 'Acute transverse myelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_293725 Label(s): Blepharophimosis-intellectual disability syndrome, Verloes type + 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Blepharophimosis-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139414 Label(s): Congenital panfollicular nevus + 'Congenital panfollicular nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_502437 Label(s): 4q25 proximal deletion syndrome + '4q25 proximal deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '4q25 proximal deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 4' + '4q25 proximal deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_502434 Label(s): STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome + 'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_496686 Label(s): Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome + 'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_502430 Label(s): Metopic ridging-ptosis-facial dysmorphism syndrome + 'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3357 Label(s): OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly + 'OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206994 Label(s): Bacterial myositis + 'Bacterial myositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious, fungal or parasitic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_457095 Label(s): Actinomycosis + 'Actinomycosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_464343 Label(s): Catastrophic antiphospholipid syndrome + 'Catastrophic antiphospholipid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Catastrophic antiphospholipid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_480898 Label(s): Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome + 'Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cortical involvement' + 'Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' + 'Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_168966 Label(s): Composite lymphoma + 'Composite lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_169157 Label(s): T-B+ severe combined immunodeficiency due to CD45 deficiency + 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_99925 Label(s): Invasive mole + 'Invasive mole' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gestational trophoblastic neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_169802 Label(s): Severe hemophilia A + 'Severe hemophilia A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemophilia A' Class: http://www.orpha.net/ORDO/Orphanet_99926 Label(s): Gestational choriocarcinoma + 'Gestational choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal non-dysgerminomatous germ cell tumor' + 'Gestational choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gestational trophoblastic neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_99927 Label(s): Hydatidiform mole + 'Hydatidiform mole' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gestational trophoblastic disease' Class: http://www.orpha.net/ORDO/Orphanet_502423 Label(s): Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome + 'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' + 'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unspecified mitochondrial disorder' + 'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_598216 Label(s): Upper tract urothelial carcinoma + 'Upper tract urothelial carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urinary tract tumor' Class: http://www.orpha.net/ORDO/Orphanet_466926 Label(s): Seizures-scoliosis-macrocephaly syndrome + 'Seizures-scoliosis-macrocephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Seizures-scoliosis-macrocephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosylglycan synthesis' + 'Seizures-scoliosis-macrocephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_464336 Label(s): BENTA disease + 'BENTA disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_295016 Label(s): Camptodactyly of fingers + 'Camptodactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital deformities of fingers' Class: http://www.orpha.net/ORDO/Orphanet_99736 Label(s): Acetazolamide-responsive myotonia + 'Acetazolamide-responsive myotonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Potassium-aggravated myotonia' Class: http://www.orpha.net/ORDO/Orphanet_464329 Label(s): Kaposiform lymphangiomatosis + 'Kaposiform lymphangiomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_464321 Label(s): Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome + 'Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare lymphatic malformation' + 'Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired platelet anomaly' Class: http://www.orpha.net/ORDO/Orphanet_449395 Label(s): IgG4-related kidney disease + 'IgG4-related kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' + 'IgG4-related kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_99935 Label(s): Pleuropulmonary blastoma type 3 + 'Pleuropulmonary blastoma type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pleuropulmonary blastoma' Class: http://www.orpha.net/ORDO/Orphanet_98834 Label(s): Acute myeloblastic leukemia with maturation + 'Acute myeloblastic leukemia with maturation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_171612 Label(s): Autosomal dominant spastic paraplegia type 37 + 'Autosomal dominant spastic paraplegia type 37' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_216828 Label(s): Osteogenesis imperfecta type 5 + 'Osteogenesis imperfecta type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_172979 Label(s): OBSOLETE: Congenital myopathy with central nuclei + 'OBSOLETE: Congenital myopathy with central nuclei' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_464318 Label(s): Verrucous hemangioma + 'Verrucous hemangioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_3360 Label(s): OBSOLETE: Trichodermal syndrome-intellectual disability syndrome + 'OBSOLETE: Trichodermal syndrome-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_319595 Label(s): Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency + 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' Class: http://www.orpha.net/ORDO/Orphanet_468726 Label(s): Severe primary trimethylaminuria + 'Severe primary trimethylaminuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of amino acid and other organic acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_3361 Label(s): Trichodysplasia-xeroderma syndrome + 'Trichodysplasia-xeroderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_464311 Label(s): Intellectual disability syndrome due to a DYRK1A point mutation + 'Intellectual disability syndrome due to a DYRK1A point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DYRK1A-related intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_177910 Label(s): Prader-Willi syndrome due to imprinting mutation + 'Prader-Willi syndrome due to imprinting mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Prader-Willi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178342 Label(s): Inflammatory myofibroblastic tumor + 'Inflammatory myofibroblastic tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_179494 Label(s): Obesity due to leptin receptor gene deficiency + 'Obesity due to leptin receptor gene deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_100924 Label(s): Porphyria due to ALA dehydratase deficiency + 'Porphyria due to ALA dehydratase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute hepatic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_213528 Label(s): Rare adenocarcinoma of the breast + 'Rare adenocarcinoma of the breast' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare malignant breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_3366 Label(s): Non-syndromic metopic craniosynostosis + 'Non-syndromic metopic craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic unisutural craniosynostosis' + 'Non-syndromic metopic craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniostenosis with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_1396 Label(s): OBSOLETE: Cerebrorenodigital syndrome + 'OBSOLETE: Cerebrorenodigital syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Meckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1461 Label(s): Criss-cross heart + 'Criss-cross heart' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare congenital non-syndromic heart malformation' Class: http://www.orpha.net/ORDO/Orphanet_2715 Label(s): Severe oculo-renal-cerebellar syndrome + 'Severe oculo-renal-cerebellar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Severe oculo-renal-cerebellar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe oculo-renal-cerebellar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Severe oculo-renal-cerebellar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe oculo-renal-cerebellar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Severe oculo-renal-cerebellar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_464306 Label(s): DYRK1A-related intellectual disability syndrome + 'DYRK1A-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'DYRK1A-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_468717 Label(s): Rhizomelic chondrodysplasia punctata type 5 + 'Rhizomelic chondrodysplasia punctata type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rhizomelic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_1160 Label(s): Chylous ascites + 'Chylous ascites' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_93339 Label(s): Polydactyly of a biphalangeal thumb + 'Polydactyly of a biphalangeal thumb' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_402017 Label(s): Acute myeloid leukemia with t(9;11)(p22;q23) + 'Acute myeloid leukemia with t(9;11)(p22;q23)' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_96178 Label(s): Ring chromosome 16 syndrome + 'Ring chromosome 16 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_410158 Label(s): Oman - 'Oman' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_454840 Label(s): NTHL1-related attenuated familial adenomatous polyposis + 'NTHL1-related attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Attenuated familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_410159 Label(s): Pakistan - 'Pakistan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_320391 Label(s): Autosomal recessive spastic paraplegia type 46 + 'Autosomal recessive spastic paraplegia type 46' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive spastic paraplegia type 46' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_509094 Label(s): lysine methyltransferase 2B + 'lysine methyltransferase 2B' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_238750 Label(s): 4q21 microdeletion syndrome + '4q21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 4' Class: http://www.orpha.net/ORDO/Orphanet_244275 Label(s): De novo thrombotic microangiopathy after kidney transplantation + 'De novo thrombotic microangiopathy after kidney transplantation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for transplant or complication after transplantation' + 'De novo thrombotic microangiopathy after kidney transplantation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thrombotic microangiopathy' Class: http://www.orpha.net/ORDO/Orphanet_91140 Label(s): Unspecified juvenile idiopathic arthritis + 'Unspecified juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_88918 Label(s): Autosomal dominant Alport syndrome + 'Autosomal dominant Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alport syndrome' Class: http://www.orpha.net/ORDO/Orphanet_320380 Label(s): Autosomal recessive spastic paraplegia type 54 + 'Autosomal recessive spastic paraplegia type 54' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 54' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_410164 Label(s): Paraguay - 'Paraguay' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_238763 Label(s): Glaucoma secondary to spherophakia/ectopia lentis and megalocornea + 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital malformation of the eye with glaucoma as a major feature' + 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic congenital malformation of the eye with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_97548 Label(s): Right sided atrial isomerism + 'Right sided atrial isomerism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' + 'Right sided atrial isomerism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heterotaxia' + 'Right sided atrial isomerism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_216718 Label(s): Isolated congenitally uncorrected transposition of the great arteries + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenitally uncorrected transposition of the great arteries' Class: http://www.orpha.net/ORDO/Orphanet_79085 Label(s): AKT2-related familial partial lipodystrophy + 'AKT2-related familial partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_314802 Label(s): Short stature due to partial GHR deficiency + 'Short stature due to partial GHR deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Growth hormone insensitivity syndrome' Class: http://www.orpha.net/ORDO/Orphanet_320375 Label(s): Autosomal recessive spastic paraplegia type 55 + 'Autosomal recessive spastic paraplegia type 55' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' + 'Autosomal recessive spastic paraplegia type 55' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'C12ORF65-related combined oxidative phosphorylation defect' Class: http://www.orpha.net/ORDO/Orphanet_320370 Label(s): Autosomal recessive spastic paraplegia type 43 + 'Autosomal recessive spastic paraplegia type 43' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_309331 Label(s): Intermediate severe Salla disease + 'Intermediate severe Salla disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Free sialic acid storage disease' Class: http://www.orpha.net/ORDO/Orphanet_309256 Label(s): Metachromatic leukodystrophy, late infantile form + 'Metachromatic leukodystrophy, late infantile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metachromatic leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_3378 Label(s): Trisomy 13 + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic vitreoretinopathy' + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_83419 Label(s): Proximal spinal muscular atrophy type 3 + 'Proximal spinal muscular atrophy type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_424982 Label(s): Biliary cystadenocarcinoma + 'Biliary cystadenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_3379 Label(s): Distal trisomy 17q + 'Distal trisomy 17q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_99960 Label(s): Benign recurrent intrahepatic cholestasis type 1 + 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign recurrent intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_99961 Label(s): Benign recurrent intrahepatic cholestasis type 2 + 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign recurrent intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_216729 Label(s): Congenitally uncorrected transposition of the great arteries with cardiac malformation + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenitally uncorrected transposition of the great arteries' Class: http://www.orpha.net/ORDO/Orphanet_1171 Label(s): Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome + 'Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' + 'Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_320365 Label(s): Autosomal dominant spastic paraplegia type 36 + 'Autosomal dominant spastic paraplegia type 36' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_100974 Label(s): FRAXF syndrome + 'FRAXF syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disease' Class: http://www.orpha.net/ORDO/Orphanet_99969 Label(s): Pleomorphic liposarcoma + 'Pleomorphic liposarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Liposarcoma' Class: http://www.orpha.net/ORDO/Orphanet_206473 Label(s): Borderline epithelial tumor of ovary + 'Borderline epithelial tumor of ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_79091 Label(s): Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome + 'Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inclusion myopathy' Class: http://www.orpha.net/ORDO/Orphanet_280068 Label(s): Visceral calciphylaxis + 'Visceral calciphylaxis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Calciphylaxis' Class: http://www.orpha.net/ORDO/Orphanet_434516 Label(s): phosphatidylinositol 4-kinase alpha + 'phosphatidylinositol 4-kinase alpha' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_631079 Class: http://www.orpha.net/ORDO/Orphanet_280065 Label(s): Calciphylaxis cutis + 'Calciphylaxis cutis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Calciphylaxis cutis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Calciphylaxis' Class: http://www.orpha.net/ORDO/Orphanet_280062 Label(s): Calciphylaxis + 'Calciphylaxis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-inflammatory vasculopathy' + 'Calciphylaxis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_3101 Label(s): Richieri Costa-da Silva syndrome + 'Richieri Costa-da Silva syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Richieri Costa-da Silva syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Richieri Costa-da Silva syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Richieri Costa-da Silva syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myotonia' Class: http://www.orpha.net/ORDO/Orphanet_3103 Label(s): Roberts syndrome + 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Musculoskeletal disease with cataract' + 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_3106 Label(s): Robinow-Sorauf syndrome + 'Robinow-Sorauf syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Saethre-Chotzen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3107 Label(s): Autosomal dominant Robinow syndrome + 'Autosomal dominant Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Robinow syndrome' Class: http://www.orpha.net/ORDO/Orphanet_726 Label(s): Alpers-Huttenlocher syndrome + 'Alpers-Huttenlocher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Alpers-Huttenlocher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Alpers-Huttenlocher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' + 'Alpers-Huttenlocher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'Alpers-Huttenlocher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Alpers-Huttenlocher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_3109 Label(s): Mayer-Rokitansky-Küster-Hauser syndrome + 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Female infertility due to an implantation defect of genetic origin' + 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an implantation defect' + 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial bilateral aplasia of the Müllerian ducts' Class: http://www.orpha.net/ORDO/Orphanet_319298 Label(s): Papillary renal cell carcinoma + 'Papillary renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_309310 Label(s): Mucopolysaccharidosis type 4B + 'Mucopolysaccharidosis type 4B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 4' Class: http://www.orpha.net/ORDO/Orphanet_93365 Label(s): OBSOLETE: CINCA syndrome with NLRP3 mutations + 'OBSOLETE: CINCA syndrome with NLRP3 mutations' SubClassOf http://www.orpha.net/ORDO/referred_to some 'CINCA syndrome' Class: http://www.orpha.net/ORDO/Orphanet_46487 Label(s): Epidermolysis bullosa acquisita + 'Epidermolysis bullosa acquisita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune bullous skin disease' Class: http://www.orpha.net/ORDO/Orphanet_598363 Label(s): Multisystem inflammatory syndrome in children and adults + 'Multisystem inflammatory syndrome in children and adults' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_284460 Label(s): Acute annular outer retinopathy + 'Acute annular outer retinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_99977 Label(s): Squamous cell carcinoma of the esophagus + 'Squamous cell carcinoma of the esophagus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of esophagus' Class: http://www.orpha.net/ORDO/Orphanet_100998 Label(s): Autosomal dominant spastic paraplegia type 17 + 'Autosomal dominant spastic paraplegia type 17' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 17' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_100999 Label(s): Autosomal dominant spastic paraplegia type 19 + 'Autosomal dominant spastic paraplegia type 19' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_210592 Label(s): OBSOLETE: Giant infantile hemangioma + 'OBSOLETE: Giant infantile hemangioma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_162526 Label(s): Isolated congenital auditory ossicle malformation + 'Isolated congenital auditory ossicle malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Middle ear anomaly' Class: http://www.orpha.net/ORDO/Orphanet_319287 Label(s): Multilocular cystic renal neoplasm of low malignant potential + 'Multilocular cystic renal neoplasm of low malignant potential' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Clear cell renal carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_162521 Label(s): OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly + 'OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Microform holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_410186 Label(s): Saudi Arabia - 'Saudi Arabia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_281127 Label(s): Acral self-healing collodion baby + 'Acral self-healing collodion baby' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_29207 Label(s): Reactive arthritis + 'Reactive arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric rheumatologic disease' + 'Reactive arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_65250 Label(s): Perineural cyst + 'Perineural cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_3122 Label(s): OBSOLETE: Sinus node disease-myopia syndrome + 'OBSOLETE: Sinus node disease-myopia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial sick sinus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3124 Label(s): Saccharopinuria + 'Saccharopinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lysine and hydroxylysine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_3128 Label(s): OBSOLETE: Sakati-Nyhan syndrome + 'OBSOLETE: Sakati-Nyhan syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_162516 Label(s): Isolated congenital nasal pyriform aperture stenosis + 'Isolated congenital nasal pyriform aperture stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1180 Label(s): Ataxia-hypogonadism-choroidal dystrophy syndrome + 'Ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic chorioretinal dystrophy' + 'Ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' + 'Ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_99981 Label(s): Apnea of prematurity + 'Apnea of prematurity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_284448 Label(s): CLIPPERS + 'CLIPPERS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuroinflammatory or neuroimmunological disease' Class: http://www.orpha.net/ORDO/Orphanet_216873 Label(s): Atypical pantothenate kinase-associated neurodegeneration + 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pantothenate kinase-associated neurodegeneration' Class: http://www.orpha.net/ORDO/Orphanet_324737 Label(s): SRD5A3-CDG + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with optic disc malformation' Class: http://www.orpha.net/ORDO/Orphanet_488594 Label(s): Autosomal recessive spastic paraplegia type 76 + 'Autosomal recessive spastic paraplegia type 76' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_444463 Label(s): Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome + 'Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric systemic disease' + 'Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' Class: http://www.orpha.net/ORDO/Orphanet_3133 Label(s): OBSOLETE: Say-Field-Coldwell syndrome + 'OBSOLETE: Say-Field-Coldwell syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_98885 Label(s): Bleeding diathesis due to glycoprotein VI deficiency + 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bleeding diathesis due to a collagen receptor defect' Class: http://www.orpha.net/ORDO/Orphanet_476406 Label(s): Congenital generalized hypercontractile muscle stiffness syndrome + 'Congenital generalized hypercontractile muscle stiffness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Congenital generalized hypercontractile muscle stiffness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of tropomyosin' + 'Congenital generalized hypercontractile muscle stiffness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Congenital generalized hypercontractile muscle stiffness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypercontractile muscle stiffness syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3137 Label(s): Alpha-N-acetylgalactosaminidase deficiency + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with epilepsy' + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oligosaccharidosis' + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_102 Label(s): Multiple system atrophy + 'Multiple system atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Multiple system atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary orthostatic hypotension' + 'Multiple system atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_104 Label(s): Leber hereditary optic neuropathy + 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary optic neuropathy' + 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_319266 Label(s): Omsk hemorrhagic fever + 'Omsk hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_107 Label(s): BOR syndrome + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Otomandibular dysplasia associated with monogenic syndromes' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_566396 Label(s): Chronic mast cell leukemia + 'Chronic mast cell leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mast cell leukemia' Class: http://www.orpha.net/ORDO/Orphanet_206484 Label(s): Gonadoblastoma + 'Gonadoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant non-epithelial tumor of ovary' + 'Gonadoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of testis and paratestis' Class: http://www.orpha.net/ORDO/Orphanet_566393 Label(s): Acute mast cell leukemia + 'Acute mast cell leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mast cell leukemia' Class: http://www.orpha.net/ORDO/Orphanet_1832 Label(s): Lethal osteosclerotic bone dysplasia + 'Lethal osteosclerotic bone dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal osteosclerotic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_410199 Label(s): Sri Lanka - 'Sri Lanka' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_320317 Label(s): OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome + 'OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Cleft lip/palate-ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_444458 Label(s): Combined oxidative phosphorylation defect type 24 + 'Combined oxidative phosphorylation defect type 24' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_488586 Label(s): Congenital amyoplasia + 'Congenital amyoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_369920 Label(s): Pontocerebellar hypoplasia type 9 + 'Pontocerebellar hypoplasia type 9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_324723 Label(s): ABeta amyloidosis, Arctic type + 'ABeta amyloidosis, Arctic type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary cerebral hemorrhage with amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_3145 Label(s): Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome + 'Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_2290 Label(s): Microvillus inclusion disease + 'Microvillus inclusion disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intractable diarrhea of infancy' + 'Microvillus inclusion disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intractable diarrhea of infancy' + 'Microvillus inclusion disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital enteropathy involving intestinal mucosa development' Class: http://www.orpha.net/ORDO/Orphanet_254693 Label(s): Partial hydatidiform mole + 'Partial hydatidiform mole' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hydatidiform mole' Class: http://www.orpha.net/ORDO/Orphanet_369929 Label(s): Primary hyperaldosteronism-seizures-neurological abnormalities syndrome + 'Primary hyperaldosteronism-seizures-neurological abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperaldosteronism' + 'Primary hyperaldosteronism-seizures-neurological abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare surgically correctable form of primary aldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_118 Label(s): Beta-mannosidosis + 'Beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oligosaccharidosis' + 'Beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' + 'Beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_119 Label(s): Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 + 'Beta-sarcoglycan-related limb-girdle muscular dystrophy R4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of beta-sarcoglycan' + 'Beta-sarcoglycan-related limb-girdle muscular dystrophy R4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromuscular disease with dilated cardiomyopathy' + 'Beta-sarcoglycan-related limb-girdle muscular dystrophy R4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_564178 Label(s): Primary hypomagnesemia-refractory seizures-intellectual disability syndrome + 'Primary hypomagnesemia-refractory seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Primary hypomagnesemia-refractory seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of magnesium transport' + 'Primary hypomagnesemia-refractory seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Primary hypomagnesemia-refractory seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Primary hypomagnesemia-refractory seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_2289 Label(s): Neuronal intranuclear inclusion disease + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare dementia' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_324718 Label(s): ABetaA21G amyloidosis + 'ABetaA21G amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary cerebral hemorrhage with amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_2287 Label(s): Fused mandibular incisors + 'Fused mandibular incisors' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontal or periodontal disorder' + 'Fused mandibular incisors' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_2286 Label(s): OBSOLETE: Solitary median maxillary central incisor syndrome + 'OBSOLETE: Solitary median maxillary central incisor syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Microform holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_3151 Label(s): Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome + 'Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' + 'Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_3152 Label(s): Sclerosteosis + 'Sclerosteosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_324713 Label(s): ABeta amyloidosis, Italian type + 'ABeta amyloidosis, Italian type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary cerebral hemorrhage with amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_3157 Label(s): Septo-optic dysplasia spectrum + 'Septo-optic dysplasia spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Septo-optic dysplasia spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Septo-optic dysplasia spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Septo-optic dysplasia spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic optic nerve hypoplasia' + 'Septo-optic dysplasia spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_536516 Label(s): Myopathic Ehlers-Danlos syndrome + 'Myopathic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' + 'Myopathic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_124 Label(s): Blackfan-Diamond anemia + 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' + 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' + 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_319247 Label(s): Hantavirus pulmonary syndrome + 'Hantavirus pulmonary syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_371054 Label(s): OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature + 'OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_127 Label(s): Borjeson-Forssman-Lehmann syndrome + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_319244 Label(s): Chapare hemorrhagic fever + 'Chapare hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_538 Label(s): Lymphangioleiomyomatosis + 'Lymphangioleiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to adulthood' + 'Lymphangioleiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_54595 Label(s): Craniopharyngioma + 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare endocrine growth disease' + 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency of tumoral origin' + 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic endocrine growth disease' + 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nervous system tumor' Class: http://www.orpha.net/ORDO/Orphanet_324708 Label(s): ABeta amyloidosis, Iowa type + 'ABeta amyloidosis, Iowa type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary cerebral hemorrhage with amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_3160 Label(s): OBSOLETE: Vascular disruption sequence + 'OBSOLETE: Vascular disruption sequence' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_2274 Label(s): Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome + 'Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' + 'Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' Class: http://www.orpha.net/ORDO/Orphanet_324703 Label(s): ABetaL34V amyloidosis + 'ABetaL34V amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary cerebral hemorrhage with amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_3164 Label(s): Omphalocele syndrome, Shprintzen-Goldberg type + 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_130 Label(s): Brugada syndrome + 'Brugada syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_319239 Label(s): Brazilian hemorrhagic fever + 'Brazilian hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_136 Label(s): Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy + 'Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebral small vessel disease' + 'Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' + 'Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cerebrovascular dementia' + 'Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_319234 Label(s): Venezuelan hemorrhagic fever + 'Venezuelan hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_139 Label(s): CHILD syndrome + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked ichthyosis syndrome' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chondrodysplasia punctata' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sterol biosynthesis disorder' Class: http://www.orpha.net/ORDO/Orphanet_2295 Label(s): Familial articular hypermobility syndrome + 'Familial articular hypermobility syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dermis elastic tissue disorder' + 'Familial articular hypermobility syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' + 'Familial articular hypermobility syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'Familial articular hypermobility syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' + 'Familial articular hypermobility syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' Class: http://www.orpha.net/ORDO/Orphanet_251992 Label(s): Ganglioneuroma + 'Ganglioneuroma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed neuronal-glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_1190 Label(s): Atelosteogenesis type I + 'Atelosteogenesis type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with bone disease' + 'Atelosteogenesis type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filamin-related bone disorder' + 'Atelosteogenesis type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_139525 Label(s): Distal hereditary motor neuropathy type 2 + 'Distal hereditary motor neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_284408 Label(s): OBSOLETE: Glycerol kinase deficiency, infantile form + 'OBSOLETE: Glycerol kinase deficiency, infantile form' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xp21 deletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2269 Label(s): Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome + 'Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with prominent neurologic signs' + 'Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary ectropion' Class: http://www.orpha.net/ORDO/Orphanet_544254 Label(s): SYNGAP1-related developmental and epileptic encephalopathy + 'SYNGAP1-related developmental and epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' + 'SYNGAP1-related developmental and epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2267 Label(s): OBSOLETE: Ichthyosis-cheek-eyebrow syndrome + 'OBSOLETE: Ichthyosis-cheek-eyebrow syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal ichthyosis syndrome with other associated signs' Class: http://www.orpha.net/ORDO/Orphanet_369950 Label(s): Intellectual disability-seizures-macrocephaly-obesity syndrome + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex chromosomal rearrangement' + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2261 Label(s): Hypospadias-intellectual disability, Goldblatt type syndrome + 'Hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2260 Label(s): Oligomeganephronia + 'Oligomeganephronia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_145 Label(s): Hereditary breast and ovarian cancer syndrome + 'Hereditary breast and ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial ovarian cancer' + 'Hereditary breast and ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic gynecological and obstetrical diseases' + 'Hereditary breast and ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare malignant breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_169189 Label(s): Autosomal dominant centronuclear myopathy + 'Autosomal dominant centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Centronuclear myopathy' Class: http://www.orpha.net/ORDO/Orphanet_169186 Label(s): Autosomal recessive centronuclear myopathy + 'Autosomal recessive centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of titin' + 'Autosomal recessive centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Centronuclear myopathy' + 'Autosomal recessive centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic ryanodine receptor defect' Class: http://www.orpha.net/ORDO/Orphanet_2258 Label(s): OBSOLETE: Congenital unilateral pulmonary hypoplasia + 'OBSOLETE: Congenital unilateral pulmonary hypoplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary pulmonary hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_3180 Label(s): Spondylocamptodactyly syndrome + 'Spondylocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2053 Label(s): Freeman-Sheldon syndrome + 'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' + 'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic sodium channel defect' + 'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2254 Label(s): Pontocerebellar hypoplasia type 1 + 'Pontocerebellar hypoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spinal muscular atrophy associated with central nervous system anomaly' + 'Pontocerebellar hypoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_2253 Label(s): Foveal hypoplasia-presenile cataract syndrome + 'Foveal hypoplasia-presenile cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Foveal hypoplasia-presenile cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_2252 Label(s): Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome + 'Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2251 Label(s): Thumb deformity-alopecia-pigmentation anomaly syndrome + 'Thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb malformations as a major feature' + 'Thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb malformations as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2250 Label(s): Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome + 'Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' + 'Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_52368 Label(s): Mohr-Tranebjaerg syndrome + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial protein import disorder' + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_319218 Label(s): Ebola hemorrhagic fever + 'Ebola hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_319213 Label(s): Lujo hemorrhagic fever + 'Lujo hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_583861 Label(s): Isolated mesenteric vein thrombosis + 'Isolated mesenteric vein thrombosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_329195 Label(s): Developmental delay with autism spectrum disorder and gait instability + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' Class: http://www.orpha.net/ORDO/Orphanet_329191 Label(s): Tall stature-long halluces-multiple extra-epiphyses syndrome + 'Tall stature-long halluces-multiple extra-epiphyses syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' + 'Tall stature-long halluces-multiple extra-epiphyses syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_98698 Label(s): OBSOLETE: Ichthyosis associated with ocular features + 'OBSOLETE: Ichthyosis associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited ichthyosis syndromic form' Class: http://www.orpha.net/ORDO/Orphanet_98697 Label(s): OBSOLETE: Genetic keratinization disorder associated with ocular features + 'OBSOLETE: Genetic keratinization disorder associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited ichthyosis syndromic form' Class: http://www.orpha.net/ORDO/Orphanet_98696 Label(s): OBSOLETE: Genodermatosis with ocular features + 'OBSOLETE: Genodermatosis with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare genetic skin disease' Class: http://www.orpha.net/ORDO/Orphanet_98695 Label(s): OBSOLETE: Mitochondrial disease with eye involvement + 'OBSOLETE: Mitochondrial disease with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mitochondrial disease' Class: http://www.orpha.net/ORDO/Orphanet_98694 Label(s): OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly + 'OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98693 Label(s): OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly + 'OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98692 Label(s): OBSOLETE: Nervous system anomaly with eye involvement + 'OBSOLETE: Nervous system anomaly with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuro-ophthalmological disease' Class: http://www.orpha.net/ORDO/Orphanet_98690 Label(s): OBSOLETE: Myasthenic syndrome with eye involvement + 'OBSOLETE: Myasthenic syndrome with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuromuscular junction disease' Class: http://www.orpha.net/ORDO/Orphanet_3193 Label(s): Supravalvular aortic stenosis + 'Supravalvular aortic stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' + 'Supravalvular aortic stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_3195 Label(s): Sternal malformation-vascular dysplasia syndrome + 'Sternal malformation-vascular dysplasia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'PHACE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_458798 Label(s): Spinocerebellar ataxia type 41 + 'Spinocerebellar ataxia type 41' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type III' Class: http://www.orpha.net/ORDO/Orphanet_220497 Label(s): Joubert syndrome with renal defect + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in nephronophthisis gene' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joubert syndrome and related disorders' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_319205 Label(s): Bilateral massive adrenal hemorrhage + 'Bilateral massive adrenal hemorrhage' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_220493 Label(s): Joubert syndrome with ocular defect + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joubert syndrome and related disorders' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_254361 Label(s): Plectin-related limb-girdle muscular dystrophy R17 + 'Plectin-related limb-girdle muscular dystrophy R17' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of plectin' + 'Plectin-related limb-girdle muscular dystrophy R17' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_169160 Label(s): T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta + 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_98689 Label(s): OBSOLETE: Myopathy with eye involvement + 'OBSOLETE: Myopathy with eye involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98686 Label(s): Congenital trochlear nerve palsy + 'Congenital trochlear nerve palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare trochlear nerve disorder' Class: http://www.orpha.net/ORDO/Orphanet_2239 Label(s): Familial isolated hypoparathyroidism due to agenesis of parathyroid gland + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial isolated hypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_2233 Label(s): Hypogonadism-mitral valve prolapse-intellectual disability syndrome + 'Hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_2232 Label(s): Primary hypergonadotropic hypogonadism-partial alopecia syndrome + 'Primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_2230 Label(s): Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome + 'Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_458785 Label(s): Partially involuting congenital hemangioma + 'Partially involuting congenital hemangioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_300496 Label(s): Multiple congenital anomalies-hypotonia-seizures syndrome type 2 + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with developmental anomaly' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_169154 Label(s): T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency + 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_169150 Label(s): Immunodeficiency due to a late component of complement deficiency + 'Immunodeficiency due to a late component of complement deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to a complement cascade component deficiency' Class: http://www.orpha.net/ORDO/Orphanet_329173 Label(s): Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis + 'Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed autoinflammatory and autoimmune syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98678 Label(s): OBSOLETE: X-linked recessive optic atrophy + 'OBSOLETE: X-linked recessive optic atrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98676 Label(s): Autosomal recessive isolated optic atrophy + 'Autosomal recessive isolated optic atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98675 Label(s): OBSOLETE: Autosomal recessive optic atrophy + 'OBSOLETE: Autosomal recessive optic atrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2228 Label(s): Hypodontia-dysplasia of nails syndrome + 'Hypodontia-dysplasia of nails syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Hypodontia-dysplasia of nails syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hypodontia-dysplasia of nails syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_98673 Label(s): Autosomal dominant optic atrophy, classic form + 'Autosomal dominant optic atrophy, classic form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant optic atrophy' + 'Autosomal dominant optic atrophy, classic form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' Class: http://www.orpha.net/ORDO/Orphanet_98670 Label(s): OBSOLETE: Vitreoretinal degeneration + 'OBSOLETE: Vitreoretinal degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_410238 Label(s): Zimbabwe - 'Zimbabwe' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_498497 Label(s): Short rib-polydactyly syndrome type 5 + 'Short rib-polydactyly syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Short rib-polydactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2220 Label(s): Hypertrichosis cubiti + 'Hypertrichosis cubiti' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hypertrichosis cubiti' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' Class: http://www.orpha.net/ORDO/Orphanet_410230 Label(s): Venezuela - 'Venezuela' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_169147 Label(s): Immunodeficiency due to a classical component pathway complement deficiency + 'Immunodeficiency due to a classical component pathway complement deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to a complement cascade component deficiency' Class: http://www.orpha.net/ORDO/Orphanet_169142 Label(s): Recurrent infection due to specific granule deficiency + 'Recurrent infection due to specific granule deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional neutrophil defect' Class: http://www.orpha.net/ORDO/Orphanet_139573 Label(s): Hereditary sensory and autonomic neuropathy with deafness and global delay + 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_363396 Label(s): High myopia-sensorineural deafness syndrome + 'High myopia-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Structural developmental eye defect of genetic origin' + 'High myopia-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Structural developmental eye defect' + 'High myopia-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_98669 Label(s): OBSOLETE: Congenital vitreoretinal dysplasia + 'OBSOLETE: Congenital vitreoretinal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_98667 Label(s): OBSOLETE: Disease predisposing to age-related macular degeneration + 'OBSOLETE: Disease predisposing to age-related macular degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial drusen' Class: http://www.orpha.net/ORDO/Orphanet_98666 Label(s): OBSOLETE: Unclassified primitive or secondary maculopathy + 'OBSOLETE: Unclassified primitive or secondary maculopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_98665 Label(s): OBSOLETE: Colobomatous and areolar dystrophy + 'OBSOLETE: Colobomatous and areolar dystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_98664 Label(s): OBSOLETE: Genetic macular dystrophy + 'OBSOLETE: Genetic macular dystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_2216 Label(s): Maternal hyperthermia-induced birth defects + 'Maternal hyperthermia-induced birth defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' + 'Maternal hyperthermia-induced birth defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal disease-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_83482 Label(s): Mycoplasma encephalitis + 'Mycoplasma encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' + 'Mycoplasma encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_410228 Label(s): Uzbekistan - 'Uzbekistan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410227 Label(s): Uruguay - 'Uruguay' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_498485 Label(s): Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome + 'Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_410224 Label(s): United Kingdom - 'United Kingdom' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410223 Label(s): United Arab Emirates - 'United Arab Emirates' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410221 Label(s): Uganda - 'Uganda' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_169139 Label(s): Transient hypogammaglobulinemia of infancy + 'Transient hypogammaglobulinemia of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_101001 Label(s): Autosomal recessive spastic paraplegia type 21 + 'Autosomal recessive spastic paraplegia type 21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_220460 Label(s): Attenuated familial adenomatous polyposis + 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic digestive tract tumor' + 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal polyposis syndrome' + 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal polyposis' Class: http://www.orpha.net/ORDO/Orphanet_139583 Label(s): X-linked hereditary sensory and autonomic neuropathy with deafness + 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_101008 Label(s): Autosomal recessive spastic paraplegia type 28 + 'Autosomal recessive spastic paraplegia type 28' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_98657 Label(s): OBSOLETE: Genetic vitreous-retinal disease + 'OBSOLETE: Genetic vitreous-retinal disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_139589 Label(s): Distal hereditary motor neuropathy type 7 + 'Distal hereditary motor neuropathy type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2203 Label(s): Hyperlysinemia + 'Hyperlysinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lysine and hydroxylysine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_2202 Label(s): Palmoplantar keratoderma-deafness syndrome + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_410217 Label(s): Turkey - 'Turkey' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410216 Label(s): Tunisia - 'Tunisia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_458758 Label(s): Composite hemangioendothelioma + 'Composite hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_498474 Label(s): Hyaline fibromatosis syndrome + 'Hyaline fibromatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic inflammatory or rheumatoid-like osteoarthropathy' + 'Hyaline fibromatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_410212 Label(s): Togo - 'Togo' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_180160 Label(s): Transverse vaginal septum + 'Transverse vaginal septum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Septate vagina' Class: http://www.orpha.net/ORDO/Orphanet_264580 Label(s): Glycogen storage disease due to liver phosphorylase kinase deficiency + 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to phosphorylase kinase deficiency' + 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_576278 Label(s): SATB2-associated syndrome + 'SATB2-associated syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SATB2-associated syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontologic disease' + 'SATB2-associated syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'SATB2-associated syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SATB2-associated syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_101016 Label(s): Romano-Ward syndrome + 'Romano-Ward syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial long QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_325524 Label(s): Classic congenital lipoid adrenal hyperplasia due to STAR deficency + 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' Class: http://www.orpha.net/ORDO/Orphanet_98647 Label(s): OBSOLETE: Cardiac disease with cataract + 'OBSOLETE: Cardiac disease with cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_98645 Label(s): OBSOLETE: Cerebral disease with cataract + 'OBSOLETE: Cerebral disease with cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_98643 Label(s): OBSOLETE: Systemic disease with cataract + 'OBSOLETE: Systemic disease with cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_99802 Label(s): Hemimegalencephaly + 'Hemimegalencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PIK3CA-related overgrowth syndrome' + 'Hemimegalencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' + 'Hemimegalencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_410205 Label(s): Switzerland - 'Switzerland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_99803 Label(s): Haddad syndrome + 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare autonomic nervous system disorder' + 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' + 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic autonomic nervous system disorder' + 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with Hirschsprung disease as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_140436 Label(s): Primary intraosseous venous malformation + 'Primary intraosseous venous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile hemangioma of rare localization' + 'Primary intraosseous venous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital vascular bone syndrome' Class: http://www.orpha.net/ORDO/Orphanet_538756 Label(s): Familial multiple discoid fibromas + 'Familial multiple discoid fibromas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Familial multiple discoid fibromas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_410200 Label(s): Sudan - 'Sudan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_49041 Label(s): IgG4-related retroperitoneal fibrosis + 'IgG4-related retroperitoneal fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' + 'IgG4-related retroperitoneal fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_220443 Label(s): Bleeding diathesis due to thromboxane synthesis deficiency + 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_101023 Label(s): Cleft hard palate + 'Cleft hard palate' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleft palate' Class: http://www.orpha.net/ORDO/Orphanet_169110 Label(s): Immunoglobulin heavy chain deficiency + 'Immunoglobulin heavy chain deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_536545 Label(s): Kyphoscoliotic Ehlers-Danlos syndrome + 'Kyphoscoliotic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98636 Label(s): OBSOLETE: Corneoiridogoniodysgenesis + 'OBSOLETE: Corneoiridogoniodysgenesis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anterior segment developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98633 Label(s): OBSOLETE: Goniodysgenesis + 'OBSOLETE: Goniodysgenesis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anterior segment developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98632 Label(s): OBSOLETE: Glaucoma associated with neural crest cell migration anomaly + 'OBSOLETE: Glaucoma associated with neural crest cell migration anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pediatric-onset glaucoma of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_420179 Label(s): Malan overgrowth syndrome + 'Malan overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Malan overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Malan overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_220436 Label(s): Quebec platelet disorder + 'Quebec platelet disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha granule disease' Class: http://www.orpha.net/ORDO/Orphanet_500188 Label(s): X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome + 'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pinnae and external auditory canal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_169105 Label(s): Good syndrome + 'Good syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_500180 Label(s): Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder + 'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101039 Label(s): Female restricted epilepsy with intellectual disability + 'Female restricted epilepsy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked intellectual disability-epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_536532 Label(s): Classical-like Ehlers-Danlos syndrome type 2 + 'Classical-like Ehlers-Danlos syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' + 'Classical-like Ehlers-Danlos syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_247798 Label(s): MUTYH-related attenuated familial adenomatous polyposis + 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Attenuated familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_268961 Label(s): Isolated focal cortical dysplasia type I + 'Isolated focal cortical dysplasia type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated focal cortical dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_100044 Label(s): Autosomal dominant intermediate Charcot-Marie-Tooth disease type B + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_449427 Label(s): IgG4-related pachymeningitis + 'IgG4-related pachymeningitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' + 'IgG4-related pachymeningitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brain inflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_101049 Label(s): Familial hypocalciuric hypercalcemia type 2 + 'Familial hypocalciuric hypercalcemia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial hypocalciuric hypercalcemia' Class: http://www.orpha.net/ORDO/Orphanet_98617 Label(s): OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma + 'OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98616 Label(s): OBSOLETE: Conjunctival tumor + 'OBSOLETE: Conjunctival tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98615 Label(s): OBSOLETE: Pigmented conjunctival lesion + 'OBSOLETE: Pigmented conjunctival lesion' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98614 Label(s): OBSOLETE: Conjunctival lymphangiectasia + 'OBSOLETE: Conjunctival lymphangiectasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98613 Label(s): OBSOLETE: Conjunctival telangiectasia + 'OBSOLETE: Conjunctival telangiectasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98612 Label(s): OBSOLETE: Conjunctival hemangioma or hemolymphangioma + 'OBSOLETE: Conjunctival hemangioma or hemolymphangioma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98611 Label(s): OBSOLETE: Conjunctival vascular anomaly + 'OBSOLETE: Conjunctival vascular anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_494541 Label(s): Childhood-onset benign chorea with striatal involvement + 'Childhood-onset benign chorea with striatal involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with chorea' + 'Childhood-onset benign chorea with striatal involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Huntington disease-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_506784 Label(s): Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome + 'Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum' Class: http://www.orpha.net/ORDO/Orphanet_458718 Label(s): Idiopathic spontaneous coronary artery dissection + 'Idiopathic spontaneous coronary artery dissection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-inflammatory vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_96061 Label(s): Mosaic trisomy 8 + 'Mosaic trisomy 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_93207 Label(s): OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change + 'OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_494547 Label(s): Squamous cell carcinoma of the hypopharynx + 'Squamous cell carcinoma of the hypopharynx' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_464288 Label(s): Short stature-brachydactyly-obesity-global developmental delay syndrome + 'Short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' + 'Short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_468699 Label(s): SLC39A8-CDG + 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of manganese transport' + 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_500166 Label(s): SIN3A-related intellectual disability syndrome due to a point mutation + 'SIN3A-related intellectual disability syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Witteveen-Kolk syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96069 Label(s): Distal trisomy 1p36 + 'Distal trisomy 1p36' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 1' Class: http://www.orpha.net/ORDO/Orphanet_464282 Label(s): Spastic paraplegia-severe developmental delay-epilepsy syndrome + 'Spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' + 'Spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_576235 Label(s): Partial atrioventricular septal defect without ventricular hypoplasia + 'Partial atrioventricular septal defect without ventricular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial atrioventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_98608 Label(s): OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system + 'OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the lacrimal apparatus' Class: http://www.orpha.net/ORDO/Orphanet_576232 Label(s): Partial atrioventricular septal defect with ventricular hypoplasia + 'Partial atrioventricular septal defect with ventricular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial atrioventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_98606 Label(s): Syndromic orbital border hypoplasia + 'Syndromic orbital border hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic lacrimal system disorder' Class: http://www.orpha.net/ORDO/Orphanet_98601 Label(s): OBSOLETE: Eyebrow/eyelashes pigmentation anomaly + 'OBSOLETE: Eyebrow/eyelashes pigmentation anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_98600 Label(s): OBSOLETE: Eyebrow/eyelashes distichiasis + 'OBSOLETE: Eyebrow/eyelashes distichiasis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_494550 Label(s): Squamous cell carcinoma of the larynx + 'Squamous cell carcinoma of the larynx' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_502363 Label(s): Squamous cell carcinoma of the oral cavity + 'Squamous cell carcinoma of the oral cavity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Squamous cell carcinoma of oral cavity and lip' Class: http://www.orpha.net/ORDO/Orphanet_60041 Label(s): Congenital heart block + 'Congenital heart block' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_276258 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group D + 'OBSOLETE: Xeroderma pigmentosum complementation group D' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_180114 Label(s): Unicervical bicornuate uterus + 'Unicervical bicornuate uterus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bicornuate uterus' Class: http://www.orpha.net/ORDO/Orphanet_220407 Label(s): Limited systemic sclerosis + 'Limited systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_500159 Label(s): Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom + 'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93944 Label(s): X-linked intellectual disability, Fichera type + 'X-linked intellectual disability, Fichera type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'X-linked intellectual disability, Sutherland-Haan type' Class: http://www.orpha.net/ORDO/Orphanet_220402 Label(s): Limited cutaneous systemic sclerosis + 'Limited cutaneous systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_93945 Label(s): X-linked intellectual disability, Porteous type + 'X-linked intellectual disability, Porteous type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renpenning syndrome' Class: http://www.orpha.net/ORDO/Orphanet_500150 Label(s): Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome + 'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_96369 Label(s): Early-onset schizophrenia + 'Early-onset schizophrenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' Class: http://www.orpha.net/ORDO/Orphanet_276261 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group E + 'OBSOLETE: Xeroderma pigmentosum complementation group E' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_230839 Label(s): Classical-like Ehlers-Danlos syndrome type 1 + 'Classical-like Ehlers-Danlos syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Classical-like Ehlers-Danlos syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Classical-like Ehlers-Danlos syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' + 'Classical-like Ehlers-Danlos syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with dentinogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_60032 Label(s): Recurrent respiratory papillomatosis + 'Recurrent respiratory papillomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Recurrent respiratory papillomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' Class: http://www.orpha.net/ORDO/Orphanet_276267 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group G + 'OBSOLETE: Xeroderma pigmentosum complementation group G' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_60030 Label(s): Loeys-Dietz syndrome + 'Loeys-Dietz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' + 'Loeys-Dietz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Loeys-Dietz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome and Marfan-related disorders' Class: http://www.orpha.net/ORDO/Orphanet_329211 Label(s): Autosomal dominant neovascular inflammatory vitreoretinopathy + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_64745 Label(s): Pruritic urticarial papules and plaques of pregnancy + 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urticaria' + 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_468678 Label(s): White-Sutton syndrome + 'White-Sutton syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'White-Sutton syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_268936 Label(s): Isolated arhinencephaly + 'Isolated arhinencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_101071 Label(s): Unilateral hemispheric polymicrogyria + 'Unilateral hemispheric polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unilateral polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_500144 Label(s): Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome + 'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_64748 Label(s): Dejerine-Sottas syndrome + 'Dejerine-Sottas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' + 'Dejerine-Sottas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_468672 Label(s): Colobomatous macrophthalmia-microcornea syndrome + 'Colobomatous macrophthalmia-microcornea syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Structural developmental eye defect' + 'Colobomatous macrophthalmia-microcornea syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Structural developmental eye defect of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_314795 Label(s): SHOX-related short stature + 'SHOX-related short stature' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_60026 Label(s): Pulmonary nodular lymphoid hyperplasia + 'Pulmonary nodular lymphoid hyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_60025 Label(s): Pulmonary alveolar microlithiasis + 'Pulmonary alveolar microlithiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Pulmonary alveolar microlithiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_2143 Label(s): Donnai-Barrow syndrome + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_300878 Label(s): Hairy cell leukemia variant + 'Hairy cell leukemia variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Indolent B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_293955 Label(s): Childhood encephalopathy due to thiamine pyrophosphokinase deficiency + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of thiamine metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_96097 Label(s): Distal trisomy 5q + 'Distal trisomy 5q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy of the long arm of chromosome 5' Class: http://www.orpha.net/ORDO/Orphanet_96098 Label(s): Distal trisomy 6q + 'Distal trisomy 6q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 6' Class: http://www.orpha.net/ORDO/Orphanet_500135 Label(s): Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome + 'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101083 Label(s): Charcot-Marie-Tooth disease type 1C + 'Charcot-Marie-Tooth disease type 1C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 1' Class: http://www.orpha.net/ORDO/Orphanet_66637 Label(s): Diaphanospondylodysostosis + 'Diaphanospondylodysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' + 'Diaphanospondylodysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_66634 Label(s): Dilated cardiomyopathy with ataxia + 'Dilated cardiomyopathy with ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' + 'Dilated cardiomyopathy with ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Dilated cardiomyopathy with ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '3-methylglutaconic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_66633 Label(s): Sensorineural hearing loss-early graying-essential tremor syndrome + 'Sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic tremor disorder' + 'Sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tremor disorder' Class: http://www.orpha.net/ORDO/Orphanet_314786 Label(s): Silent pituitary adenoma + 'Silent pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_596008 Label(s): Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis + 'Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Antley-Bixler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_66630 Label(s): Congenital pseudoarthrosis of the clavicle + 'Congenital pseudoarthrosis of the clavicle' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis of genetic origin' + 'Congenital pseudoarthrosis of the clavicle' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_36899 Label(s): Myoclonus-dystonia syndrome + 'Myoclonus-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic potassium channel defect' + 'Myoclonus-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' + 'Myoclonus-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary myoclonus' Class: http://www.orpha.net/ORDO/Orphanet_60015 Label(s): Enlarged parietal foramina + 'Enlarged parietal foramina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Enlarged parietal foramina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' + 'Enlarged parietal foramina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_60014 Label(s): Argyria + 'Argyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_457193 Label(s): Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome + 'Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_244310 Label(s): RFT1-CDG + 'RFT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'RFT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'RFT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with deafness as a major feature' + 'RFT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'RFT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' Class: http://www.orpha.net/ORDO/Orphanet_624268 Label(s): Non-specific autoimmune cerebellar ataxia without characteristic antibodies + 'Non-specific autoimmune cerebellar ataxia without characteristic antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune-mediated cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_66629 Label(s): Goldberg-Shprintzen megacolon syndrome + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with Hirschsprung disease as a major feature' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2118 Label(s): Hawkinsinuria + 'Hawkinsinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of tyrosine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_66625 Label(s): Cerebrooculonasal syndrome + 'Cerebrooculonasal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Cerebrooculonasal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Cerebrooculonasal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebrooculonasal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_66624 Label(s): PANDAS + 'PANDAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Postinfectious autoimmune disease with chorea' Class: http://www.orpha.net/ORDO/Orphanet_314777 Label(s): Familial isolated pituitary adenoma + 'Familial isolated pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_504530 Label(s): Combined immunodeficiency due to Moesin deficiency + 'Combined immunodeficiency due to Moesin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_261638 Label(s): Okihiro syndrome due to 20q13 microdeletion + 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 20' + 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Okihiro syndrome' Class: http://www.orpha.net/ORDO/Orphanet_601013 Label(s): Non-syndromic anorectal malformation with pouch colon + 'Non-syndromic anorectal malformation with pouch colon' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_95427 Label(s): Secondary short bowel syndrome + 'Secondary short bowel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Short bowel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_504523 Label(s): Severe combined immunodeficiency due to LAT deficiency + 'Severe combined immunodeficiency due to LAT deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_2853 Label(s): Serpentine fibula-polycystic kidneys syndrome + 'Serpentine fibula-polycystic kidneys syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hajdu-Cheney syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2855 Label(s): Perrault syndrome + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XX disorder of sex development' + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to gonadal dysgenesis' + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Perrault syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' Class: http://www.orpha.net/ORDO/Orphanet_309297 Label(s): Mucopolysaccharidosis type 4A + 'Mucopolysaccharidosis type 4A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 4' Class: http://www.orpha.net/ORDO/Orphanet_544472 Label(s): Atypical hemolytic uremic syndrome with complement gene abnormality + 'Atypical hemolytic uremic syndrome with complement gene abnormality' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atypical hemolytic uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_52022 Label(s): Potocki-Shaffer syndrome + 'Potocki-Shaffer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Potocki-Shaffer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Potocki-Shaffer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 11' Class: http://www.orpha.net/ORDO/Orphanet_468635 Label(s): Cryptogenic multifocal ulcerous stenosing enteritis + 'Cryptogenic multifocal ulcerous stenosing enteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' + 'Cryptogenic multifocal ulcerous stenosing enteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' + 'Cryptogenic multifocal ulcerous stenosing enteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for bowel transplant' Class: http://www.orpha.net/ORDO/Orphanet_624244 Label(s): Postinfectious cerebellitis + 'Postinfectious cerebellitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune-mediated cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_468631 Label(s): Microcephalic cortical malformations-short stature due to RTTN deficiency + 'Microcephalic cortical malformations-short stature due to RTTN deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_2120 Label(s): OBSOLETE: Heckenlively syndrome + 'OBSOLETE: Heckenlively syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare ophthalmic disorder' Class: http://www.orpha.net/ORDO/Orphanet_502305 Label(s): Cochleovestibular malformation + 'Cochleovestibular malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Middle ear anomaly' Class: http://www.orpha.net/ORDO/Orphanet_309288 Label(s): Alpha-mannosidosis, adult form + 'Alpha-mannosidosis, adult form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha-mannosidosis' Class: http://www.orpha.net/ORDO/Orphanet_309282 Label(s): Alpha-mannosidosis, infantile form + 'Alpha-mannosidosis, infantile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha-mannosidosis' Class: http://www.orpha.net/ORDO/Orphanet_54238 Label(s): Myotonic dystrophy type 3 + 'Myotonic dystrophy type 3' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_468620 Label(s): Intellectual disability-epilepsy-extrapyramidal syndrome + 'Intellectual disability-epilepsy-extrapyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_207003 Label(s): OBSOLETE: Endocrine myopathy + 'OBSOLETE: Endocrine myopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_99109 Label(s): Persistent left superior vena cava connecting through coronary sinus to left-sided atrium + 'Persistent left superior vena cava connecting through coronary sinus to left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of superior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_280282 Label(s): Pelizaeus-Merzbacher-like disease due to GJC2 mutation + 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pelizaeus-Merzbacher-like disease' Class: http://www.orpha.net/ORDO/Orphanet_1809 Label(s): Hidrotic ectodermal dysplasia, Halal type + 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_476394 Label(s): PMP2-related Charcot-Marie-Tooth disease type 1 + 'PMP2-related Charcot-Marie-Tooth disease type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_52047 Label(s): Braddock syndrome + 'Braddock syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Braddock syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Braddock syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Braddock syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with pulmonary hypertension as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_586130 Label(s): Sporadic fatal insomnia + 'Sporadic fatal insomnia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sporadic human prion disease' Class: http://www.orpha.net/ORDO/Orphanet_309263 Label(s): Metachromatic leukodystrophy, juvenile form + 'Metachromatic leukodystrophy, juvenile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metachromatic leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_99843 Label(s): Leukocyte adhesion deficiency type II + 'Leukocyte adhesion deficiency type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Leukocyte adhesion deficiency type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'Leukocyte adhesion deficiency type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Leukocyte adhesion deficiency type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukocyte adhesion deficiency' Class: http://www.orpha.net/ORDO/Orphanet_52054 Label(s): Craniosynostosis-intracranial calcifications syndrome + 'Craniosynostosis-intracranial calcifications syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_46532 Label(s): Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome + 'Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beta-thalassemia associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_512260 Label(s): Congenital cerebellar ataxia due to RNU12 mutation + 'Congenital cerebellar ataxia due to RNU12 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Congenital cerebellar ataxia due to RNU12 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_561854 Label(s): FOXG1 syndrome + 'FOXG1 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'FOXG1 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Motor stereotypies' + 'FOXG1 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pervasive developmental disorder' + 'FOXG1 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2088 Label(s): Fanconi-Bickel syndrome + 'Fanconi-Bickel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glucose transport disorder' + 'Fanconi-Bickel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Fanconi-Bickel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Fanconi-Bickel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_54260 Label(s): Left ventricular noncompaction + 'Left ventricular noncompaction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac malformation' + 'Left ventricular noncompaction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified cardiomyopathy' + 'Left ventricular noncompaction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with striated muscle involvement' Class: http://www.orpha.net/ORDO/Orphanet_309252 Label(s): Atypical Gaucher disease due to saposin C deficiency + 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gaucher disease' Class: http://www.orpha.net/ORDO/Orphanet_2135 Label(s): Hennekam-Beemer syndrome + 'Hennekam-Beemer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hennekam-Beemer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_276630 Label(s): Symptomatic form of Coffin-Lowry syndrome in female carriers + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_576227 Label(s): Complete atrioventricular septal defect without ventricular hypoplasia + 'Complete atrioventricular septal defect without ventricular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complete atrioventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_314718 Label(s): Lethal arteriopathy syndrome due to fibulin-4 deficiency + 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular disease' + 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutis laxa' Class: http://www.orpha.net/ORDO/Orphanet_247709 Label(s): Multiple endocrine neoplasia type 2B + 'Multiple endocrine neoplasia type 2B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal/paraganglial tumor' + 'Multiple endocrine neoplasia type 2B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple endocrine neoplasia type 2' Class: http://www.orpha.net/ORDO/Orphanet_120540 Label(s): Wnt family member 4 + 'Wnt family member 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Mayer-Rokitansky-Küster-Hauser syndrome' Class: http://www.orpha.net/ORDO/Orphanet_276627 Label(s): OBSOLETE: Sporadic secreting paraganglioma + 'OBSOLETE: Sporadic secreting paraganglioma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Sporadic pheochromocytoma/secreting paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_276624 Label(s): OBSOLETE: Sporadic pheochromocytoma + 'OBSOLETE: Sporadic pheochromocytoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Sporadic pheochromocytoma/secreting paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_276621 Label(s): Sporadic pheochromocytoma/secreting paraganglioma + 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pheochromocytoma-paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_2921 Label(s): Preaxial polydactyly-colobomata-intellectual disability syndrome + 'Preaxial polydactyly-colobomata-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Preaxial polydactyly-colobomata-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_314701 Label(s): Primary systemic amyloidosis + 'Primary systemic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'AL amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_309239 Label(s): Tay-Sachs disease, B1 variant + 'Tay-Sachs disease, B1 variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tay-Sachs disease' Class: http://www.orpha.net/ORDO/Orphanet_576242 Label(s): Intermediate atrioventricular septal defect + 'Intermediate atrioventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atrioventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_99856 Label(s): Primary syringomyelia + 'Primary syringomyelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syringomyelia' + 'Primary syringomyelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_431255 Label(s): Scapuloperoneal spinal muscular atrophy + 'Scapuloperoneal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_284388 Label(s): Reversible cerebral vasoconstriction syndrome + 'Reversible cerebral vasoconstriction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare headache' Class: http://www.orpha.net/ORDO/Orphanet_276608 Label(s): Non-insulinoma pancreatogenous hypoglycemia syndrome + 'Non-insulinoma pancreatogenous hypoglycemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_65284 Label(s): Biotin-thiamine-responsive basal ganglia disease + 'Biotin-thiamine-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of thiamine metabolism and transport' + 'Biotin-thiamine-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_276603 Label(s): Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency + 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-resistant focal hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_1512 Label(s): Crane-Heise syndrome + 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99121 Label(s): Azygos continuation of the inferior vena cava + 'Azygos continuation of the inferior vena cava' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of the inferior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_99123 Label(s): Inferior vena cava interruption without azygos continuation + 'Inferior vena cava interruption without azygos continuation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of the inferior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_1831 Label(s): De Hauwere syndrome + 'De Hauwere syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Axenfeld-Rieger syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352613 Label(s): Male infertility due to NANOS1 mutation + 'Male infertility due to NANOS1 mutation' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Male infertility with teratozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_240085 Label(s): Progressive supranuclear palsy-parkinsonism syndrome + 'Progressive supranuclear palsy-parkinsonism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_1836 Label(s): Mesomelic dysplasia, Kantaputra type + 'Mesomelic dysplasia, Kantaputra type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_565782 Label(s): Methotrexate toxicity + 'Methotrexate toxicity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_3207 Label(s): White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome + 'White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3208 Label(s): Isolated succinate-CoQ reductase deficiency + 'Isolated succinate-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Isolated succinate-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Isolated succinate-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated oxidative phosphorylation complex disorder' Class: http://www.orpha.net/ORDO/Orphanet_282166 Label(s): Inherited Creutzfeldt-Jakob disease + 'Inherited Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited human prion disease' + 'Inherited Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Inherited Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_319195 Label(s): Chondroectodermal dysplasia with night blindness + 'Chondroectodermal dysplasia with night blindness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'Chondroectodermal dysplasia with night blindness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_565788 Label(s): Infantile inflammatory bowel disease with neurological involvement + 'Infantile inflammatory bowel disease with neurological involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune dysregulation with inflammatory bowel disease' + 'Infantile inflammatory bowel disease with neurological involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2882 Label(s): Sitosterolemia + 'Sitosterolemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic dyslipidemia' Class: http://www.orpha.net/ORDO/Orphanet_284362 Label(s): Fetal lung interstitial tumor + 'Fetal lung interstitial tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pleuropulmonary blastoma' Class: http://www.orpha.net/ORDO/Orphanet_2885 Label(s): Piebald trait-neurologic defects syndrome + 'Piebald trait-neurologic defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Piebald trait-neurologic defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hypopigmentation of the skin' + 'Piebald trait-neurologic defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypopigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_3217 Label(s): Deafness-small bowel diverticulosis-neuropathy syndrome + 'Deafness-small bowel diverticulosis-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_319189 Label(s): Familial cortical myoclonus + 'Familial cortical myoclonus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary myoclonus' Class: http://www.orpha.net/ORDO/Orphanet_99865 Label(s): Spermatocytic seminoma + 'Spermatocytic seminoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Germ cell tumor of testis' Class: http://www.orpha.net/ORDO/Orphanet_319182 Label(s): Wiedemann-Steiner syndrome + 'Wiedemann-Steiner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Wiedemann-Steiner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_556955 Label(s): Pancreatic agenesis-holoprosencephaly syndrome + 'Pancreatic agenesis-holoprosencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pancreatic agenesis-holoprosencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pancreatic agenesis-holoprosencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Pancreatic agenesis-holoprosencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic visceral malformation' + 'Pancreatic agenesis-holoprosencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_84271 Label(s): Sporadic idiopathic steroid-resistant nephrotic syndrome + 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_83311 Label(s): Rocky Mountain spotted fever + 'Rocky Mountain spotted fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spotted fever rickettsiosis' Class: http://www.orpha.net/ORDO/Orphanet_324648 Label(s): Invasive non-typhoidal salmonellosis + 'Invasive non-typhoidal salmonellosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare form of salmonellosis' Class: http://www.orpha.net/ORDO/Orphanet_3220 Label(s): Deafness-enamel hypoplasia-nail defects syndrome + 'Deafness-enamel hypoplasia-nail defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Deafness-enamel hypoplasia-nail defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Deafness-enamel hypoplasia-nail defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Deafness-enamel hypoplasia-nail defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3221 Label(s): Generalized resistance to thyroid hormone + 'Generalized resistance to thyroid hormone' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' Class: http://www.orpha.net/ORDO/Orphanet_2153 Label(s): Hirschsprung disease-nail hypoplasia-dysmorphism syndrome + 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with Hirschsprung disease as a major feature' + 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' + 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' Class: http://www.orpha.net/ORDO/Orphanet_3228 Label(s): OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome + 'OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome' Class: http://www.orpha.net/ORDO/Orphanet_280779 Label(s): Cutaneous collagenous vasculopathy + 'Cutaneous collagenous vasculopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_91365 Label(s): OBSOLETE: Secondary ciliary dyskinesia + 'OBSOLETE: Secondary ciliary dyskinesia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_99131 Label(s): Pleuro-pericardial cyst + 'Pleuro-pericardial cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pericardium anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2156 Label(s): OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome + 'OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_576283 Label(s): SATB2-associated syndrome due to a pathogenic variant + 'SATB2-associated syndrome due to a pathogenic variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'SATB2-associated syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319171 Label(s): Distal 17p13.1 microdeletion syndrome + 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome 17' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_369999 Label(s): Diffuse palmoplantar keratoderma with painful fissures + 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_284343 Label(s): Pleuropulmonary blastoma familial tumor susceptibility syndrome - 'Pleuropulmonary blastoma familial tumor susceptibility syndrome' SubClassOf 'subtype of a disorder' + 'Pleuropulmonary blastoma familial tumor susceptibility syndrome' SubClassOf 'disorder' + 'Pleuropulmonary blastoma familial tumor susceptibility syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pleuropulmonary blastoma' + 'Pleuropulmonary blastoma familial tumor susceptibility syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_324636 Label(s): Autoerythrocyte sensitization syndrome + 'Autoerythrocyte sensitization syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune disease with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_3233 Label(s): Cochleosaccular degeneration-cataract syndrome + 'Cochleosaccular degeneration-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Cochleosaccular degeneration-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cochleosaccular degeneration-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_324632 Label(s): Hendra virus infection + 'Hendra virus infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_228343 Label(s): CLN4B disease + 'CLN4B disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adult neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_202 Label(s): Crandall syndrome + 'Crandall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_90023 Label(s): Primary immunodeficiency syndrome due to LAMTOR2 deficiency + 'Primary immunodeficiency syndrome due to LAMTOR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_319160 Label(s): Congenital myopathy with internal nuclei and atypical cores + 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Centronuclear myopathy' + 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy with cores' Class: http://www.orpha.net/ORDO/Orphanet_284339 Label(s): Pontocerebellar hypoplasia type 7 + 'Pontocerebellar hypoplasia type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pontocerebellar hypoplasia type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_88661 Label(s): Amelogenesis imperfecta + 'Amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontal or periodontal disorder' + 'Amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_88660 Label(s): Hypertension due to gain-of-function mutations in the mineralocorticoid receptor + 'Hypertension due to gain-of-function mutations in the mineralocorticoid receptor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Hypertension due to gain-of-function mutations in the mineralocorticoid receptor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cause of hypertension' + 'Hypertension due to gain-of-function mutations in the mineralocorticoid receptor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_2199 Label(s): Epidermolytic palmoplantar keratoderma + 'Epidermolytic palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_2198 Label(s): Palmoplantar keratoderma-esophageal carcinoma syndrome + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic gastro-esophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_284332 Label(s): Infantile-onset autosomal recessive nonprogressive cerebellar ataxia + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_2196 Label(s): Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement + 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis' + 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic macular dystrophy' + 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_324625 Label(s): Chikungunya + 'Chikungunya' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arbovirus fever' Class: http://www.orpha.net/ORDO/Orphanet_2959 Label(s): Progeria-short stature-pigmented nevi syndrome + 'Progeria-short stature-pigmented nevi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Progeria-short stature-pigmented nevi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Progeria-short stature-pigmented nevi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Progeria-short stature-pigmented nevi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' Class: http://www.orpha.net/ORDO/Orphanet_330197 Label(s): OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome + 'OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3246 Label(s): Symphalangism with multiple anomalies of hands and feet + 'Symphalangism with multiple anomalies of hands and feet' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Symphalangism with multiple anomalies of hands and feet' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_3248 Label(s): Distal symphalangism + 'Distal symphalangism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joint formation defects' Class: http://www.orpha.net/ORDO/Orphanet_99874 Label(s): OBSOLETE: Adult pulmonary Langerhans cell histiocytosis + 'OBSOLETE: Adult pulmonary Langerhans cell histiocytosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_217 Label(s): Isolated Dandy-Walker malformation + 'Isolated Dandy-Walker malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Posterior fossa malformation' + 'Isolated Dandy-Walker malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic posterior fossa malformation' Class: http://www.orpha.net/ORDO/Orphanet_99875 Label(s): OBSOLETE: Ehlers-Danlos syndrome type 7A + 'OBSOLETE: Ehlers-Danlos syndrome type 7A' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arthrochalasia Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_88659 Label(s): Autosomal dominant progressive nephropathy with hypertension + 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cause of hypertension' Class: http://www.orpha.net/ORDO/Orphanet_99876 Label(s): OBSOLETE: Ehlers-Danlos syndrome type 7B + 'OBSOLETE: Ehlers-Danlos syndrome type 7B' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arthrochalasia Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_165958 Label(s): Cavitary myiasis + 'Cavitary myiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myiasis' Class: http://www.orpha.net/ORDO/Orphanet_363429 Label(s): Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome + 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of amino acid absorption and transport' + 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive metabolic cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_284324 Label(s): Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia + 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_3250 Label(s): Proximal symphalangism + 'Proximal symphalangism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_66661 Label(s): Mast cell sarcoma + 'Mast cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_2184 Label(s): Hydrocephaly-low insertion umbilicus syndrome + 'Hydrocephaly-low insertion umbilicus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Hydrocephaly-low insertion umbilicus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_410198 Label(s): Spain - 'Spain' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_324611 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_410196 Label(s): South Africa - 'South Africa' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_222 Label(s): Erosive pustular dermatosis of the scalp + 'Erosive pustular dermatosis of the scalp' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_410193 Label(s): Slovenia - 'Slovenia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410192 Label(s): Slovakia - 'Slovakia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_225 Label(s): Maternally-inherited diabetes and deafness + 'Maternally-inherited diabetes and deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'Maternally-inherited diabetes and deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Maternally-inherited diabetes and deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Maternally-inherited diabetes and deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Maternally-inherited diabetes and deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_227 Label(s): Diphallia + 'Diphallia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of male' Class: http://www.orpha.net/ORDO/Orphanet_1059 Label(s): Blue rubber bleb nevus + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic venous malformation' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare venous malformation' Class: http://www.orpha.net/ORDO/Orphanet_243343 Label(s): Dimethylglycine dehydrogenase deficiency + 'Dimethylglycine dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of serine or glycine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_88644 Label(s): Autosomal recessive ataxia, Beauce type + 'Autosomal recessive ataxia, Beauce type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_88643 Label(s): Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome + 'Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_88642 Label(s): Congenital insensitivity to pain-anosmia-neuropathic arthropathy + 'Congenital insensitivity to pain-anosmia-neuropathic arthropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_1865 Label(s): Dyssegmental dysplasia, Silverman-Handmaker type + 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Perlecan-related bone disorder' + 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' Class: http://www.orpha.net/ORDO/Orphanet_324604 Label(s): Classic multiminicore myopathy + 'Classic multiminicore myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiminicore myopathy' Class: http://www.orpha.net/ORDO/Orphanet_39044 Label(s): Uveal melanoma + 'Uveal melanoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_410188 Label(s): Serbia - 'Serbia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_324601 Label(s): X-linked cleft palate and ankyloglossia + 'X-linked cleft palate and ankyloglossia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_39041 Label(s): Omenn syndrome + 'Omenn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_1062 Label(s): Hereditary neurocutaneous malformation + 'Hereditary neurocutaneous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Hereditary neurocutaneous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' + 'Hereditary neurocutaneous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular tumor' + 'Hereditary neurocutaneous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurovascular malformation' + 'Hereditary neurocutaneous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Hereditary neurocutaneous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral diseases of vascular origin with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1063 Label(s): Tufted angioma + 'Tufted angioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' + 'Tufted angioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_180267 Label(s): Giant adenofibroma of the breast + 'Giant adenofibroma of the breast' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare benign breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_1068 Label(s): Aniridia-intellectual disability syndrome + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic aniridia' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_319605 Label(s): X-linked mendelian susceptibility to mycobacterial diseases + 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mendelian susceptibility to mycobacterial diseases' Class: http://www.orpha.net/ORDO/Orphanet_169095 Label(s): Severe combined immunodeficiency due to FOXN1 deficiency + 'Severe combined immunodeficiency due to FOXN1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_88639 Label(s): Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency + 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic organic aciduria' + 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_207000 Label(s): Fungal myositis + 'Fungal myositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious, fungal or parasitic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_88636 Label(s): Aortic dilatation-joint hypermobility-arterial tortuosity syndrome + 'Aortic dilatation-joint hypermobility-arterial tortuosity syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Familial thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_48918 Label(s): Focal myositis + 'Focal myositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_88633 Label(s): Superior limbic keratoconjunctivitis + 'Superior limbic keratoconjunctivitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare conjunctivitis' Class: http://www.orpha.net/ORDO/Orphanet_88630 Label(s): Terminal osseous dysplasia-pigmentary defects syndrome + 'Terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' + 'Terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filamin-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_2169 Label(s): Methylcobalamin deficiency type cblE + 'Methylcobalamin deficiency type cblE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Methylcobalamin deficiency type cblE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Homocystinuria without methylmalonic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_2168 Label(s): Homocarnosinosis + 'Homocarnosinosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive spastic paraplegia type 11' Class: http://www.orpha.net/ORDO/Orphanet_2167 Label(s): Holzgreve syndrome + 'Holzgreve syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Holzgreve syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Holzgreve syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3270 Label(s): Radioulnar synostosis-developmental delay-hypotonia syndrome + 'Radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' + 'Radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3271 Label(s): Radio-ulnar synostosis-retinal pigment abnormalities syndrome + 'Radio-ulnar synostosis-retinal pigment abnormalities syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cohen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_412069 Label(s): AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome + 'AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2163 Label(s): Holoprosencephaly-craniosynostosis syndrome + 'Holoprosencephaly-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Holoprosencephaly-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Holoprosencephaly-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Holoprosencephaly-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_2161 Label(s): OBSOLETE: Holoacardius amorphus + 'OBSOLETE: Holoacardius amorphus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_240 Label(s): Léri-Weill dyschondrosteosis + 'Léri-Weill dyschondrosteosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_242 Label(s): 46,XY complete gonadal dysgenesis + '46,XY complete gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + '46,XY complete gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of gonadal development' + '46,XY complete gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gonadal dysgenesis of gynecological interest' + '46,XY complete gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_410173 Label(s): Romania - 'Romania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410172 Label(s): Reunion - 'Reunion' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410171 Label(s): Qatar - 'Qatar' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410170 Label(s): Puerto rico - 'Puerto rico' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_169085 Label(s): Susceptibility to respiratory infections associated with CD8alpha chain mutation + 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_88629 Label(s): Tritanopia + 'Tritanopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Color-vision disease' Class: http://www.orpha.net/ORDO/Orphanet_169082 Label(s): Combined immunodeficiency due to CD3gamma deficiency + 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_88621 Label(s): Ichthyosis-prematurity syndrome + 'Ichthyosis-prematurity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' Class: http://www.orpha.net/ORDO/Orphanet_88620 Label(s): Isolated congenital anosmia + 'Isolated congenital anosmia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic otorhinolaryngologic disease' + 'Isolated congenital anosmia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' Class: http://www.orpha.net/ORDO/Orphanet_2158 Label(s): Histidinuria-renal tubular defect syndrome + 'Histidinuria-renal tubular defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of histidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_444316 Label(s): Idiopathic phalangeal acro-osteolysis + 'Idiopathic phalangeal acro-osteolysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteonecrosis' Class: http://www.orpha.net/ORDO/Orphanet_2155 Label(s): Hirschsprung disease-deafness-polydactyly syndrome + 'Hirschsprung disease-deafness-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hirschsprung disease-deafness-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Hirschsprung disease-deafness-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with Hirschsprung disease as a major feature' + 'Hirschsprung disease-deafness-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' + 'Hirschsprung disease-deafness-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_82004 Label(s): Ehlers-Danlos syndrome with periventricular heterotopia + 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Periventricular nodular heterotopia' Class: http://www.orpha.net/ORDO/Orphanet_410169 Label(s): Portugal - 'Portugal' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410168 Label(s): Poland - 'Poland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_2151 Label(s): Hirschsprung disease-ganglioneuroblastoma syndrome + 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' + 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_410166 Label(s): Philippines - 'Philippines' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410165 Label(s): Peru - 'Peru' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_252 Label(s): OBSOLETE: Spondyloepimetaphyseal dysplasia + 'OBSOLETE: Spondyloepimetaphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_256 Label(s): Early-onset generalized limb-onset dystonia + 'Early-onset generalized limb-onset dystonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Generalized isolated dystonia' Class: http://www.orpha.net/ORDO/Orphanet_257 Label(s): Epidermolysis bullosa simplex with muscular dystrophy + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with corneal involvement as a major feature' + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex with extracutaneous involvement' + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of plectin' + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with corneal involvement as a major feature' + 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' Class: http://www.orpha.net/ORDO/Orphanet_308425 Label(s): Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency + 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Methylmalonic acidemia without homocystinuria' Class: http://www.orpha.net/ORDO/Orphanet_2177 Label(s): Hydranencephaly + 'Hydranencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Encephaloclastic disorder' Class: http://www.orpha.net/ORDO/Orphanet_88618 Label(s): S-adenosylhomocysteine hydrolase deficiency + 'S-adenosylhomocysteine hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'S-adenosylhomocysteine hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'S-adenosylhomocysteine hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_88616 Label(s): Autosomal recessive non-syndromic intellectual disability + 'Autosomal recessive non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98599 Label(s): OBSOLETE: Eyebrow/eyelashes structural anomaly + 'OBSOLETE: Eyebrow/eyelashes structural anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_98598 Label(s): OBSOLETE: Congenital absence of the eyebrow/eyelashes + 'OBSOLETE: Congenital absence of the eyebrow/eyelashes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_98597 Label(s): OBSOLETE: Eyelashes hypertrophy + 'OBSOLETE: Eyelashes hypertrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_98596 Label(s): OBSOLETE: Eyebrow hypertrophy + 'OBSOLETE: Eyebrow hypertrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_98595 Label(s): OBSOLETE: Eyebrow/eyelashes hypertrichosis + 'OBSOLETE: Eyebrow/eyelashes hypertrichosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with hypertrichosis' Class: http://www.orpha.net/ORDO/Orphanet_98593 Label(s): OBSOLETE: Neurogenic palpebral tumor + 'OBSOLETE: Neurogenic palpebral tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_448718 Label(s): asparaginyl-tRNA synthetase 2, mitochondrial + 'asparaginyl-tRNA synthetase 2, mitochondrial' SubClassOf 'disease-causing germline mutation(s) in' some 'DEND syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2145 Label(s): Craniosynostosis, Herrmann-Opitz type + 'Craniosynostosis, Herrmann-Opitz type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_98590 Label(s): OBSOLETE: Palpebral piliary tumor + 'OBSOLETE: Palpebral piliary tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_410157 Label(s): Norway - 'Norway' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410153 Label(s): Nigeria - 'Nigeria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410151 Label(s): Nicaragua - 'Nicaragua' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410150 Label(s): New Zealand - 'New Zealand' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_220393 Label(s): Diffuse cutaneous systemic sclerosis + 'Diffuse cutaneous systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_98589 Label(s): OBSOLETE: Palpebral malignant melanoma + 'OBSOLETE: Palpebral malignant melanoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98588 Label(s): OBSOLETE: Palpebral nevus + 'OBSOLETE: Palpebral nevus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_98586 Label(s): OBSOLETE: Pigmented palpebral tumor + 'OBSOLETE: Pigmented palpebral tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98585 Label(s): OBSOLETE: Palpebral sebaceous gland tumor + 'OBSOLETE: Palpebral sebaceous gland tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98584 Label(s): OBSOLETE: Malignant tumor of palpebral epidermis + 'OBSOLETE: Malignant tumor of palpebral epidermis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98583 Label(s): OBSOLETE: Precancerous lesion of palpebral epidermis + 'OBSOLETE: Precancerous lesion of palpebral epidermis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_2136 Label(s): Hennekam syndrome + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary lymphedema with systemic or visceral involvement' + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98581 Label(s): OBSOLETE: Palpebral epidermal tumor + 'OBSOLETE: Palpebral epidermal tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_2134 Label(s): Atypical hemolytic uremic syndrome + 'Atypical hemolytic uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hemolytic uremic syndrome' + 'Atypical hemolytic uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2132 Label(s): Hemoglobin C disease + 'Hemoglobin C disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemoglobinopathy' + 'Hemoglobin C disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_410147 Label(s): Netherlands - 'Netherlands' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_270 Label(s): Oculopharyngeal muscular dystrophy + 'Oculopharyngeal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Oculopharyngeal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' + 'Oculopharyngeal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' + 'Oculopharyngeal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' Class: http://www.orpha.net/ORDO/Orphanet_254534 Label(s): Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation + 'Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Kagami-Ogata syndrome' Class: http://www.orpha.net/ORDO/Orphanet_505208 Label(s): 3-methylglutaconic aciduria type 8 + '3-methylglutaconic aciduria type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '3-methylglutaconic aciduria' + '3-methylglutaconic aciduria type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_254531 Label(s): Temple syndrome due to paternal 14q32.2 hypomethylation + 'Temple syndrome due to paternal 14q32.2 hypomethylation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Temple syndrome' Class: http://www.orpha.net/ORDO/Orphanet_410141 Label(s): Morocco - 'Morocco' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_220386 Label(s): Semilobar holoprosencephaly + 'Semilobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_499085 Label(s): Chronic relapsing inflammatory optic neuropathy + 'Chronic relapsing inflammatory optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune/inflammatory optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_209341 Label(s): DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy + 'DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_98577 Label(s): OBSOLETE: Kinetic eyelid anomaly + 'OBSOLETE: Kinetic eyelid anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare palpebral disorder' Class: http://www.orpha.net/ORDO/Orphanet_2129 Label(s): OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome + 'OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98573 Label(s): OBSOLETE: Epicanthal fold + 'OBSOLETE: Epicanthal fold' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic epicanthus' Class: http://www.orpha.net/ORDO/Orphanet_98572 Label(s): OBSOLETE: Canthal anomaly + 'OBSOLETE: Canthal anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare palpebral disorder' Class: http://www.orpha.net/ORDO/Orphanet_2124 Label(s): Cavernous hemangiomas of face-supraumbilical midline raphe syndrome + 'Cavernous hemangiomas of face-supraumbilical midline raphe syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'PHACE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254528 Label(s): Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion + 'Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Kagami-Ogata syndrome' + 'Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_410138 Label(s): Mongolia - 'Mongolia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410136 Label(s): Moldova, Republic of - 'Moldova, Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_96100 Label(s): Distal trisomy 8q + 'Distal trisomy 8q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 8' Class: http://www.orpha.net/ORDO/Orphanet_410134 Label(s): Mexico - 'Mexico' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_418959 Label(s): Squamous cell carcinoma of the stomach + 'Squamous cell carcinoma of the stomach' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of stomach' Class: http://www.orpha.net/ORDO/Orphanet_2185 Label(s): Congenital hydrocephalus + 'Congenital hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic central nervous system malformation' + 'Congenital hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic central nervous system malformation' Class: http://www.orpha.net/ORDO/Orphanet_98309 Label(s): OBSOLETE: Male infertility with impaired virilization + 'OBSOLETE: Male infertility with impaired virilization' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_410130 Label(s): Martinique - 'Martinique' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_2186 Label(s): Hydrocephalus-blue sclerae-nephropathy syndrome + 'Hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_300385 Label(s): Pituitary carcinoma + 'Pituitary carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary tumor' Class: http://www.orpha.net/ORDO/Orphanet_96109 Label(s): Distal trisomy 22q + 'Distal trisomy 22q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 22' Class: http://www.orpha.net/ORDO/Orphanet_352670 Label(s): Autosomal dominant intermediate Charcot-Marie-Tooth disease type F + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_209335 Label(s): Autosomal dominant adult-onset proximal spinal muscular atrophy + 'Autosomal dominant adult-onset proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_98569 Label(s): OBSOLETE: Secondary entropion + 'OBSOLETE: Secondary entropion' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with entropion' Class: http://www.orpha.net/ORDO/Orphanet_2119 Label(s): HEC syndrome + 'HEC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial restrictive cardiomyopathy' + 'HEC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial rare disease with dilated cardiomyopathy' + 'HEC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial dilated cardiomyopathy' + 'HEC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_2117 Label(s): Hartsfield syndrome + 'Hartsfield syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hartsfield syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Hartsfield syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Hartsfield syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hartsfield syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' + 'Hartsfield syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_564003 Label(s): Osteochondrosis of the metatarsal bone + 'Osteochondrosis of the metatarsal bone' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_254519 Label(s): Kagami-Ogata syndrome + 'Kagami-Ogata syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kagami-Ogata syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1897 Label(s): EEM syndrome + 'EEM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'EEM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic macular dystrophy' + 'EEM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' Class: http://www.orpha.net/ORDO/Orphanet_254516 Label(s): Temple syndrome + 'Temple syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Temple syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Temple syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2110 Label(s): Hallux varus-preaxial polysyndactyly syndrome + 'Hallux varus-preaxial polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_293 Label(s): Congenital herpes simplex virus infection + 'Congenital herpes simplex virus infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious embryofetopathy' + 'Congenital herpes simplex virus infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_98318 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_75566 Label(s): Loeffler endocarditis + 'Loeffler endocarditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_410120 Label(s): Luxembourg - 'Luxembourg' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_418945 Label(s): Carcinoma of esophagus, salivary gland type + 'Carcinoma of esophagus, salivary gland type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of esophagus' Class: http://www.orpha.net/ORDO/Orphanet_98856 Label(s): Charcot-Marie-Tooth disease type 2B1 + 'Charcot-Marie-Tooth disease type 2B1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with peripheral neuropathy' + 'Charcot-Marie-Tooth disease type 2B1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_94147 Label(s): Spinocerebellar ataxia type 7 + 'Spinocerebellar ataxia type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type II' + 'Spinocerebellar ataxia type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Supranuclear eye movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_536467 Label(s): B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome + 'B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic Ehlers-Danlos syndrome' + 'B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosylglycan synthesis' Class: http://www.orpha.net/ORDO/Orphanet_583856 Label(s): Isolated splenic vein thrombosis + 'Isolated splenic vein thrombosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroenterologic disease' Class: http://www.orpha.net/ORDO/Orphanet_2108 Label(s): Hallermann-Streiff syndrome + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniofacial anomaly with cataract' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_254509 Label(s): Iatrogenic botulism + 'Iatrogenic botulism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Botulism' Class: http://www.orpha.net/ORDO/Orphanet_410119 Label(s): Lithuania - 'Lithuania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_2102 Label(s): GTP cyclohydrolase I deficiency + 'GTP cyclohydrolase I deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperphenylalaninemia due to tetrahydrobiopterin deficiency' Class: http://www.orpha.net/ORDO/Orphanet_410117 Label(s): Libyan Arab Jamahiriya - 'Libyan Arab Jamahiriya' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_254504 Label(s): Inhalational botulism + 'Inhalational botulism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Botulism' Class: http://www.orpha.net/ORDO/Orphanet_410114 Label(s): Lebanon - 'Lebanon' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_98327 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_217093 Label(s): Mucopolysaccharidosis type 2, attenuated form + 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 2' Class: http://www.orpha.net/ORDO/Orphanet_101111 Label(s): Spinocerebellar ataxia type 25 + 'Spinocerebellar ataxia type 25' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_227972 Label(s): Toxic oil syndrome + 'Toxic oil syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_91131 Label(s): DK1-CDG + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_2190 Label(s): OBSOLETE: Congenital hydronephrosis + 'OBSOLETE: Congenital hydronephrosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2494 Label(s): Ménétrier disease + 'Ménétrier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_227976 Label(s): Autosomal recessive optic atrophy, OPA7 type + 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_410109 Label(s): Korea, Republic of - 'Korea, Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410106 Label(s): Kenya - 'Kenya' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_2194 Label(s): Anti-HLA hyperimmunization + 'Anti-HLA hyperimmunization' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare immune disease' Class: http://www.orpha.net/ORDO/Orphanet_98337 Label(s): OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation + 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_457223 Label(s): Syndromic sensorineural deafness due to combined oxidative phosphorylation defect + 'Syndromic sensorineural deafness due to combined oxidative phosphorylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Syndromic sensorineural deafness due to combined oxidative phosphorylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_217085 Label(s): Mucopolysaccharidosis type 2, severe form + 'Mucopolysaccharidosis type 2, severe form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 2' Class: http://www.orpha.net/ORDO/Orphanet_96334 Label(s): Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 + 'Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Kagami-Ogata syndrome' + 'Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_99172 Label(s): Euryblepharon + 'Euryblepharon' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic eyelid malposition disorder' + 'Euryblepharon' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eyelid malposition disorder' Class: http://www.orpha.net/ORDO/Orphanet_217080 Label(s): Pulmonary fungal infections in patients deemed at risk + 'Pulmonary fungal infections in patients deemed at risk' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_79113 Label(s): Mandibulofacial dysostosis-microcephaly syndrome + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_94124 Label(s): Spinocerebellar ataxia with axonal neuropathy type 1 + 'Spinocerebellar ataxia with axonal neuropathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Spinocerebellar ataxia with axonal neuropathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_94122 Label(s): Cerebellar ataxia, Cayman type + 'Cerebellar ataxia, Cayman type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital cerebellar ataxia' + 'Cerebellar ataxia, Cayman type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98340 Label(s): OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity + 'OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98345 Label(s): OBSOLETE: Rare idiopathic male infertility + 'OBSOLETE: Rare idiopathic male infertility' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_264200 Label(s): 14q22q23 microdeletion syndrome + '14q22q23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 14' + '14q22q23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '14q22q23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_268874 Label(s): OBSOLETE: Congenital hydromyelia + 'OBSOLETE: Congenital hydromyelia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_268871 Label(s): OBSOLETE: Primary syringomyelia/hydromyelia + 'OBSOLETE: Primary syringomyelia/hydromyelia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_495818 Label(s): 9q33.3q34.11 microdeletion syndrome + '9q33.3q34.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '9q33.3q34.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' + '9q33.3q34.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' + '9q33.3q34.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the long arm of chromosome 9' + '9q33.3q34.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_71213 Label(s): Retinal capillary malformation + 'Retinal capillary malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurovascular malformation' + 'Retinal capillary malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' + 'Retinal capillary malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Retinal capillary malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular tumor' + 'Retinal capillary malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' + 'Retinal capillary malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_467166 Label(s): Tubulinopathy-associated dysgyria + 'Tubulinopathy-associated dysgyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Tubulinopathy-associated dysgyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Tubulinopathy-associated dysgyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Tubulinopathy-associated dysgyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98520 Label(s): OBSOLETE: Cystic malformation of the posterior fossa + 'OBSOLETE: Cystic malformation of the posterior fossa' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central nervous system cystic malformation' Class: http://www.orpha.net/ORDO/Orphanet_217067 Label(s): Pouchitis + 'Pouchitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_217064 Label(s): 5-fluorouracil poisoning + '5-fluorouracil poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_268868 Label(s): Isolated amyelia + 'Isolated amyelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_410204 Label(s): Sweden - 'Sweden' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_300333 Label(s): Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome + 'Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex with extracutaneous involvement' + 'Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_264450 Label(s): Trisomy 8p + 'Trisomy 8p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 8' Class: http://www.orpha.net/ORDO/Orphanet_268861 Label(s): Primary tethered cord syndrome + 'Primary tethered cord syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_410207 Label(s): Taiwan, Province of China - 'Taiwan, Province of China' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410209 Label(s): Tanzania, United Republic of - 'Tanzania, United Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_467176 Label(s): Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome + 'Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_217059 Label(s): Isolated congenital digital clubbing + 'Isolated congenital digital clubbing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joint formation defects' + 'Isolated congenital digital clubbing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_611237 Label(s): Parkinsonism with polyneuropathy + 'Parkinsonism with polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'Parkinsonism with polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Parkinsonism with polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Parkinsonism with polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_217055 Label(s): Autosomal recessive intermediate Charcot-Marie-Tooth disease type A + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_217052 Label(s): OBSOLETE: Infantile non-syndromic cataract + 'OBSOLETE: Infantile non-syndromic cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_300324 Label(s): Persistent polyclonal B-cell lymphocytosis + 'Persistent polyclonal B-cell lymphocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoid hemopathy' Class: http://www.orpha.net/ORDO/Orphanet_504476 Label(s): Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome + 'Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive syndromic cerebellar ataxia' + 'Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' + 'Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebellar ataxia with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_500062 Label(s): Infantile-onset periodic fever-panniculitis-dermatosis syndrome + 'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary periodic fever syndrome' Class: http://www.orpha.net/ORDO/Orphanet_73423 Label(s): Acute ackee fruit intoxication + 'Acute ackee fruit intoxication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_457260 Label(s): X-linked intellectual disability-hypotonia-movement disorder syndrome + 'X-linked intellectual disability-hypotonia-movement disorder syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217046 Label(s): OBSOLETE: Autosomal recessive childhood-onset cortical cataract + 'OBSOLETE: Autosomal recessive childhood-onset cortical cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset partial cataract' Class: http://www.orpha.net/ORDO/Orphanet_300319 Label(s): Charcot-Marie-Tooth disease type 2P + 'Charcot-Marie-Tooth disease type 2P' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Charcot-Marie-Tooth disease type 2P' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98909 Label(s): Desminopathy + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromuscular disease with dilated cardiomyopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myofibrillar myopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of desmin' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inclusion myopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_500055 Label(s): 16p13.2 microdeletion syndrome + '16p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + '16p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_79133 Label(s): Focal facial dermal dysplasia type I + 'Focal facial dermal dysplasia type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal facial dermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_624190 Label(s): Paraneoplastic isolated brainstem encephalitis + 'Paraneoplastic isolated brainstem encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paraneoplastic neurologic syndrome' + 'Paraneoplastic isolated brainstem encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_228165 Label(s): Baló concentric sclerosis + 'Baló concentric sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple sclerosis variant' Class: http://www.orpha.net/ORDO/Orphanet_79137 Label(s): Generalized epilepsy-paroxysmal dyskinesia syndrome + 'Generalized epilepsy-paroxysmal dyskinesia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' + 'Generalized epilepsy-paroxysmal dyskinesia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_96183 Label(s): Maternal uniparental disomy of chromosome 9 + 'Maternal uniparental disomy of chromosome 9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_217034 Label(s): Male infertility with normal virilization due to meiosis defect + 'Male infertility with normal virilization due to meiosis defect' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_268838 Label(s): Leptomyelolipoma + 'Leptomyelolipoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lipoma associated with neurospinal dysraphism' Class: http://www.orpha.net/ORDO/Orphanet_268835 Label(s): Lipomyelomeningocele + 'Lipomyelomeningocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lipoma associated with neurospinal dysraphism' Class: http://www.orpha.net/ORDO/Orphanet_93406 Label(s): Syndactyly type 5 + 'Syndactyly type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_314697 Label(s): Acquired porencephaly + 'Acquired porencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Porencephaly' Class: http://www.orpha.net/ORDO/Orphanet_98915 Label(s): Synaptic congenital myasthenic syndromes + 'Synaptic congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96192 Label(s): Paternal uniparental disomy of chromosome 7 + 'Paternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_217026 Label(s): Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type + 'Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_268829 Label(s): Basal encephalocele + 'Basal encephalocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated encephalocele' Class: http://www.orpha.net/ORDO/Orphanet_217023 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly + 'OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_268826 Label(s): Parietal encephalocele + 'Parietal encephalocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated encephalocele' Class: http://www.orpha.net/ORDO/Orphanet_79141 Label(s): Hereditary painful callosities + 'Hereditary painful callosities' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated focal palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_410225 Label(s): United States - 'United States' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_268823 Label(s): Occipital encephalocele + 'Occipital encephalocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated encephalocele' Class: http://www.orpha.net/ORDO/Orphanet_306431 Label(s): Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies + 'Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_268820 Label(s): Cranial meningocele + 'Cranial meningocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cephalocele' Class: http://www.orpha.net/ORDO/Orphanet_293925 Label(s): Lethal occipital encephalocele-skeletal dysplasia syndrome + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_314684 Label(s): Primary bone lymphoma + 'Primary bone lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary organ-specific lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_317473 Label(s): Pancytopenia due to IKZF1 mutations + 'Pancytopenia due to IKZF1 mutations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_317476 Label(s): X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia + 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_611256 Label(s): Pontocerebellar hypoplasia type 12 + 'Pontocerebellar hypoplasia type 12' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'Pontocerebellar hypoplasia type 12' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_217017 Label(s): Zechi-Ceide syndrome + 'Zechi-Ceide syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Zechi-Ceide syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_34587 Label(s): Glycogen storage disease due to LAMP-2 deficiency + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal glycogen storage disease' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease with hypertrophic cardiomyopathy' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial dilated cardiomyopathy' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_624166 Label(s): Non-specific autoimmune supratentorial encephalitis with characteristic antibodies + 'Non-specific autoimmune supratentorial encephalitis with characteristic antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory and autoimmune disease with epilepsy' + 'Non-specific autoimmune supratentorial encephalitis with characteristic antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_268813 Label(s): Myelocystocele + 'Myelocystocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_268810 Label(s): Posterior meningocele + 'Posterior meningocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_166305 Label(s): Benign infantile seizures associated with mild gastroenteritis + 'Benign infantile seizures associated with mild gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign partial infantile seizures' Class: http://www.orpha.net/ORDO/Orphanet_254343 Label(s): Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome + 'Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive spastic ataxia' + 'Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_166308 Label(s): Benign infantile focal epilepsy with midline spikes and waves during sleep + 'Benign infantile focal epilepsy with midline spikes and waves during sleep' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign partial infantile seizures' Class: http://www.orpha.net/ORDO/Orphanet_217008 Label(s): Bockenheimer syndrome + 'Bockenheimer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Bockenheimer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare venous malformation' Class: http://www.orpha.net/ORDO/Orphanet_276580 Label(s): Autosomal dominant hyperinsulinism due to Kir6.2 deficiency + 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-sensitive diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_207031 Label(s): OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy + 'OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Corpus callosum agenesis-neuronopathy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79153 Label(s): Idiopathic trachyonychia + 'Idiopathic trachyonychia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_314667 Label(s): TMEM165-CDG + 'TMEM165-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'TMEM165-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'TMEM165-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'TMEM165-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' + 'TMEM165-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_84090 Label(s): Fibronectin glomerulopathy + 'Fibronectin glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic systemic disease with glomerulopathy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_314662 Label(s): Segmental progressive overgrowth syndrome with fibroadipose hyperplasia + 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PIK3CA-related overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306446 Label(s): OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance + 'OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_320411 Label(s): Autosomal recessive spastic paraplegia type 56 + 'Autosomal recessive spastic paraplegia type 56' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive spastic paraplegia type 56' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal recessive spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_180242 Label(s): Malignant tumor of fallopian tubes + 'Malignant tumor of fallopian tubes' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare uterine adnexal tumor' Class: http://www.orpha.net/ORDO/Orphanet_1708 Label(s): Mosaic trisomy 16 + 'Mosaic trisomy 16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_276575 Label(s): Autosomal dominant hyperinsulinism due to SUR1 deficiency + 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-sensitive diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_309192 Label(s): Tay-Sachs disease, B variant, adult form + 'Tay-Sachs disease, B variant, adult form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tay-Sachs disease' Class: http://www.orpha.net/ORDO/Orphanet_563991 Label(s): Osteochondrosis of the tarsal bone + 'Osteochondrosis of the tarsal bone' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_1509 Label(s): Coxopodopatellar syndrome + 'Coxopodopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Patellar dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_314655 Label(s): Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion + 'Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 5' + 'Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314652 Label(s): Variant ABeta2M amyloidosis + 'Variant ABeta2M amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ABeta2M amyloidosis' + 'Variant ABeta2M amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_309185 Label(s): Tay-Sachs disease, B variant, juvenile form + 'Tay-Sachs disease, B variant, juvenile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tay-Sachs disease' Class: http://www.orpha.net/ORDO/Orphanet_314647 Label(s): Non-progressive cerebellar ataxia with intellectual disability + 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' + 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293964 Label(s): Hypoinsulinemic hypoglycemia and body hemihypertrophy + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare endocrine disease' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic endocrine disease' Class: http://www.orpha.net/ORDO/Orphanet_498359 Label(s): Aquagenic palmoplantar keratoderma + 'Aquagenic palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_309178 Label(s): Tay-Sachs disease, B variant, infantile form + 'Tay-Sachs disease, B variant, infantile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tay-Sachs disease' Class: http://www.orpha.net/ORDO/Orphanet_276556 Label(s): Hyperinsulinism due to UCP2 deficiency + 'Hyperinsulinism due to UCP2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-sensitive diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_263425 Label(s): Nevus of Ota + 'Nevus of Ota' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_46627 Label(s): Char syndrome + 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_440706 Label(s): Ribose-5-P isomerase deficiency + 'Ribose-5-P isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Ribose-5-P isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pentose phosphate metabolism' Class: http://www.orpha.net/ORDO/Orphanet_314637 Label(s): Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency + 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_93941 Label(s): Laryngotracheoesophageal cleft type 4 + 'Laryngotracheoesophageal cleft type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laryngotracheoesophageal cleft' Class: http://www.orpha.net/ORDO/Orphanet_29073 Label(s): Multiple myeloma + 'Multiple myeloma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Plasma cell tumor' + 'Multiple myeloma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hematological disease associated with an acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_29072 Label(s): Hereditary pheochromocytoma-paraganglioma + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neuroendocrine tumor' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic adrenal disease' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pheochromocytoma-paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_93947 Label(s): X-linked intellectual disability, Golabi-Ito-Hall type + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renpenning syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309169 Label(s): Sandhoff disease, adult form + 'Sandhoff disease, adult form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sandhoff disease' Class: http://www.orpha.net/ORDO/Orphanet_100991 Label(s): Autosomal dominant spastic paraplegia type 10 + 'Autosomal dominant spastic paraplegia type 10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal dominant spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_309162 Label(s): Sandhoff disease, juvenile form + 'Sandhoff disease, juvenile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sandhoff disease' Class: http://www.orpha.net/ORDO/Orphanet_2815 Label(s): Spastic paraparesis-deafness syndrome + 'Spastic paraparesis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_409929 Label(s): autosomal dominant - 'autosomal dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_228360 Label(s): CLN5 disease + 'CLN5 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_440713 Label(s): Isolated sedoheptulokinase deficiency + 'Isolated sedoheptulokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pentose phosphate metabolism' Class: http://www.orpha.net/ORDO/Orphanet_314629 Label(s): CLN11 disease + 'CLN11 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adult neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_93950 Label(s): X-linked intellectual disability, Sutherland-Haan type + 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renpenning syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100997 Label(s): X-linked spastic paraplegia type 16 + 'X-linked spastic paraplegia type 16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex X-linked spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_168999 Label(s): Malignant melanoma of the mucosa + 'Malignant melanoma of the mucosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_314621 Label(s): Duplication of the pituitary gland + 'Duplication of the pituitary gland' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypothalamic or pituitary disease' + 'Duplication of the pituitary gland' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Midline cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_93957 Label(s): OBSOLETE: Limb dystonia + 'OBSOLETE: Limb dystonia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_93958 Label(s): Oromandibular dystonia + 'Oromandibular dystonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_309155 Label(s): Sandhoff disease, infantile form + 'Sandhoff disease, infantile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sandhoff disease' Class: http://www.orpha.net/ORDO/Orphanet_34528 Label(s): Autosomal dominant primary hypomagnesemia with hypocalciuria + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of magnesium transport' + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_34527 Label(s): OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia + 'OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_409938 Label(s): Y-linked - 'Y-linked' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409939 Label(s): unknown inheritance - 'unknown inheritance' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_563954 Label(s): Isolated congenital hypoglossia + 'Isolated congenital hypoglossia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated congenital hypoglossia/aglossia' Class: http://www.orpha.net/ORDO/Orphanet_93445 Label(s): OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement + 'OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_563951 Label(s): Isolated congenital aglossia + 'Isolated congenital aglossia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated congenital hypoglossia/aglossia' Class: http://www.orpha.net/ORDO/Orphanet_34520 Label(s): Congenital muscular dystrophy with integrin alpha-7 deficiency + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of integrin alpha-7' + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_440724 Label(s): Extensive peripapillary myelinated nerve fibers + 'Extensive peripapillary myelinated nerve fibers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare optic nerve disorder' Class: http://www.orpha.net/ORDO/Orphanet_98950 Label(s): Partial cryptophthalmia + 'Partial cryptophthalmia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated cryptophthalmia' Class: http://www.orpha.net/ORDO/Orphanet_93962 Label(s): OBSOLETE: Cervical dystonia + 'OBSOLETE: Cervical dystonia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_314613 Label(s): Growing teratoma syndrome + 'Growing teratoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal non-dysgerminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_514352 Label(s): Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome + 'Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndromic esophageal malformation' + 'Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic esophageal malformation' Class: http://www.orpha.net/ORDO/Orphanet_168984 Label(s): CLAPO syndrome + 'CLAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex vascular malformation with associated anomalies' + 'CLAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_54370 Label(s): Primary membranoproliferative glomerulonephritis + 'Primary membranoproliferative glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic glomerular disease' + 'Primary membranoproliferative glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_34526 Label(s): OBSOLETE: Genetic primary hypomagnesemia + 'OBSOLETE: Genetic primary hypomagnesemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_309147 Label(s): Hyper-beta-alaninemia + 'Hyper-beta-alaninemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' + 'Hyper-beta-alaninemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pyrimidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_409941 Label(s): not genetically inherited - 'not genetically inherited' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_98958 Label(s): Climatic droplet keratopathy + 'Climatic droplet keratopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_409946 Label(s): childhood - 'childhood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_34517 Label(s): Autosomal dominant limb-girdle muscular dystrophy type 1E + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Desminopathy' Class: http://www.orpha.net/ORDO/Orphanet_34516 Label(s): DNAJB6-related limb-girdle muscular dystrophy D1 + 'DNAJB6-related limb-girdle muscular dystrophy D1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_34514 Label(s): Telethonin-related limb-girdle muscular dystrophy R7 + 'Telethonin-related limb-girdle muscular dystrophy R7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of telethonin' + 'Telethonin-related limb-girdle muscular dystrophy R7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_440731 Label(s): L-ferritin deficiency + 'L-ferritin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic hematologic disease' + 'L-ferritin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hematologic disease' Class: http://www.orpha.net/ORDO/Orphanet_597738 Label(s): Luscan-Lumish syndrome + 'Luscan-Lumish syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Luscan-Lumish syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' + 'Luscan-Lumish syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Luscan-Lumish syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_238459 Label(s): SLC35A1-CDG + 'SLC35A1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'SLC35A1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with nephropathy as a major feature' + 'SLC35A1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'SLC35A1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314603 Label(s): Autosomal recessive spastic ataxia with leukoencephalopathy + 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive spastic ataxia' + 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_324588 Label(s): Familial dyskinesia and facial myokymia + 'Familial dyskinesia and facial myokymia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare paroxysmal movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_324585 Label(s): Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_309139 Label(s): OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA + 'OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_168972 Label(s): Kahrizi syndrome + 'Kahrizi syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'SRD5A3-CDG' Class: http://www.orpha.net/ORDO/Orphanet_409951 Label(s): no age of onset data available - 'no age of onset data available' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_48435 Label(s): Postinfectious vasculitis + 'Postinfectious vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary vasculitis' + 'Postinfectious vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brain inflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_1409 Label(s): Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome + 'Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Woolly hair' Class: http://www.orpha.net/ORDO/Orphanet_160148 Label(s): Cap polyposis + 'Cap polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_284289 Label(s): Adult-onset autosomal recessive cerebellar ataxia + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia' + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284282 Label(s): Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_324575 Label(s): Hyperinsulinism due to HNF1A deficiency + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-sensitive diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_168960 Label(s): Refractory anemia with excess blasts in transformation + 'Refractory anemia with excess blasts in transformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86822 Label(s): Lissencephaly type 3-metacarpal bone dysplasia syndrome + 'Lissencephaly type 3-metacarpal bone dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lissencephaly type 3' Class: http://www.orpha.net/ORDO/Orphanet_1302 Label(s): Cryptogenic organizing pneumonia + 'Cryptogenic organizing pneumonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_139547 Label(s): Distal spinal muscular atrophy type 3 + 'Distal spinal muscular atrophy type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_324569 Label(s): Pontocerebellar hypoplasia type 8 + 'Pontocerebellar hypoplasia type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_284271 Label(s): Autosomal recessive cerebellar ataxia-psychomotor delay syndrome + 'Autosomal recessive cerebellar ataxia-psychomotor delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive syndromic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia-psychomotor delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3301 Label(s): Tetraamelia-multiple malformations syndrome + 'Tetraamelia-multiple malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Tetraamelia-multiple malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Tetraamelia-multiple malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Tetraamelia-multiple malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Tetraamelia-multiple malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Tetraamelia-multiple malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_168953 Label(s): Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement + 'Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' Class: http://www.orpha.net/ORDO/Orphanet_200421 Label(s): Immunodeficiency with factor H anomaly + 'Immunodeficiency with factor H anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to a complement regulatory deficiency' Class: http://www.orpha.net/ORDO/Orphanet_324561 Label(s): Hypopigmentation-punctate palmoplantar keratoderma syndrome + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_309111 Label(s): Combined pancreatic lipase-colipase deficiency + 'Combined pancreatic lipase-colipase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lipid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_409976 Label(s): 1-9 / 1 000 000 - '1-9 / 1 000 000' SubClassOf 'annual incidence' - '1-9 / 1 000 000' SubClassOf 'point prevalence' - '1-9 / 1 000 000' SubClassOf 'birth prevalence' - '1-9 / 1 000 000' SubClassOf 'lifetime prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409977 Label(s): 1-9 / 100 000 - '1-9 / 100 000' SubClassOf 'point prevalence' - '1-9 / 100 000' SubClassOf 'birth prevalence' - '1-9 / 100 000' SubClassOf 'lifetime prevalence' - '1-9 / 100 000' SubClassOf 'annual incidence' Class: http://www.orpha.net/ORDO/Orphanet_402364 Label(s): Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly + 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_200418 Label(s): Immunodeficiency with factor I anomaly + 'Immunodeficiency with factor I anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to a complement regulatory deficiency' Class: http://www.orpha.net/ORDO/Orphanet_598164 Label(s): FOXG1 syndrome due to intragenic alteration + 'FOXG1 syndrome due to intragenic alteration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'FOXG1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1412 Label(s): Tarsal-carpal coalition syndrome + 'Tarsal-carpal coalition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_168947 Label(s): Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement + 'Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' Class: http://www.orpha.net/ORDO/Orphanet_1414 Label(s): Cholestasis-lymphedema syndrome + 'Cholestasis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic hepatic disease' + 'Cholestasis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late-onset primary lymphedema without systemic or visceral involvement' + 'Cholestasis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hepatic disease' Class: http://www.orpha.net/ORDO/Orphanet_309108 Label(s): Pancreatic colipase deficiency + 'Pancreatic colipase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lipid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_168940 Label(s): Chronic eosinophilic leukemia + 'Chronic eosinophilic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloproliferative neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_3316 Label(s): Thomas syndrome + 'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3317 Label(s): Thoracolaryngopelvic dysplasia + 'Thoracolaryngopelvic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathies with major skeletal involvement' + 'Thoracolaryngopelvic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Thoracolaryngopelvic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' + 'Thoracolaryngopelvic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_3319 Label(s): Congenital amegakaryocytic thrombocytopenia + 'Congenital amegakaryocytic thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated constitutional thrombocytopenia' + 'Congenital amegakaryocytic thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_206713 Label(s): OBSOLETE: Distal spinal muscular atrophy + 'OBSOLETE: Distal spinal muscular atrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_512103 Label(s): Autosomal recessive epidermolytic ichthyosis + 'Autosomal recessive epidermolytic ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Keratinopathic ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_409987 Label(s): Latin America - 'Latin America' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_1118 Label(s): Fibular aplasia-ectrodactyly syndrome + 'Fibular aplasia-ectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Fibular aplasia-ectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' Class: http://www.orpha.net/ORDO/Orphanet_409989 Label(s): South East Asia - 'South East Asia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_169446 Label(s): OBSOLETE: Autosomal recessive hyper-IgE syndrome + 'OBSOLETE: Autosomal recessive hyper-IgE syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209956 Label(s): Idiopathic uveal effusion syndrome + 'Idiopathic uveal effusion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare choroidal disorder' + 'Idiopathic uveal effusion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Panuveitis' Class: http://www.orpha.net/ORDO/Orphanet_618 Label(s): Familial melanoma + 'Familial melanoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Familial melanoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_3320 Label(s): Thrombocytopenia-absent radius syndrome + 'Thrombocytopenia-absent radius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Thrombocytopenia-absent radius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Thrombocytopenia-absent radius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_3322 Label(s): Hoyeraal-Hreidarsson syndrome + 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_46658 Label(s): Primordial short stature-microdontia-opalescent and rootless teeth syndrome + 'Primordial short stature-microdontia-opalescent and rootless teeth syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Microcephalic osteodysplastic primordial dwarfism type II' Class: http://www.orpha.net/ORDO/Orphanet_324540 Label(s): Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome + 'Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_409992 Label(s): Specific population - 'Specific population' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_3328 Label(s): Absent tibia-polydactyly-arachnoid cyst syndrome + 'Absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93472 Label(s): OBSOLETE: Dysmorphic syndrome associated with bone anomaly + 'OBSOLETE: Dysmorphic syndrome associated with bone anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_409996 Label(s): Algeria - 'Algeria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_522077 Label(s): Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome + 'Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hyperkinetic movement disorder' + 'Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic hyperkinetic movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_156071 Label(s): OBSOLETE: Keratoconus + 'OBSOLETE: Keratoconus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic keratoconus' Class: http://www.orpha.net/ORDO/Orphanet_284247 Label(s): Familial retinal arterial macroaneurysm + 'Familial retinal arterial macroaneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic central nervous system and retinal vascular disease' + 'Familial retinal arterial macroaneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Familial retinal arterial macroaneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' + 'Familial retinal arterial macroaneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' + 'Familial retinal arterial macroaneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_139557 Label(s): X-linked distal spinal muscular atrophy type 3 + 'X-linked distal spinal muscular atrophy type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_71274 Label(s): Disseminated peritoneal leiomyomatosis + 'Disseminated peritoneal leiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for bowel transplant' + 'Disseminated peritoneal leiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary peritoneal tumor' Class: http://www.orpha.net/ORDO/Orphanet_324535 Label(s): Combined oxidative phosphorylation defect type 11 + 'Combined oxidative phosphorylation defect type 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_404546 Label(s): DITRA + 'DITRA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'DITRA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'DITRA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome' + 'DITRA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' + 'DITRA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome of childhood' + 'DITRA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_397685 Label(s): Familial hyperprolactinemia + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypothalamic or pituitary disease' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic hypothalamic or pituitary disease' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_86841 Label(s): Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality + 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1130 Label(s): Arachnodactyly-intellectual disability-dysmorphism syndrome + 'Arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_324530 Label(s): Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation + 'Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed autoinflammatory and autoimmune syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3338 Label(s): Toriello-Carey syndrome + 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_566192 Label(s): Congenital autosomal recessive small-platelet thrombocytopenia + 'Congenital autosomal recessive small-platelet thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_210133 Label(s): Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome + 'Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_216989 Label(s): Autosomal dominant dystrophic epidermolysis bullosa, Pasini type + 'Autosomal dominant dystrophic epidermolysis bullosa, Pasini type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant generalized dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_3002 Label(s): Immune thrombocytopenia + 'Immune thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_284232 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2O + 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_3340 Label(s): OBSOLETE: Torres-Aybar syndrome + 'OBSOLETE: Torres-Aybar syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_324525 Label(s): Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation + 'Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_3342 Label(s): Arterial tortuosity syndrome + 'Arterial tortuosity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutis laxa' + 'Arterial tortuosity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_2092 Label(s): Focal dermal hypoplasia + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed dermis disorder' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lens shape anomaly' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic mixed dermis disorder' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2091 Label(s): Multinodular goiter-cystic kidney-polydactyly syndrome + 'Multinodular goiter-cystic kidney-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Multinodular goiter-cystic kidney-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_312 Label(s): Autosomal dominant epidermolytic ichthyosis + 'Autosomal dominant epidermolytic ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Keratinopathic ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_216986 Label(s): Niemann-Pick disease type C, adult neurologic onset + 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Niemann-Pick disease type C' Class: http://www.orpha.net/ORDO/Orphanet_1427 Label(s): Otospondylomegaepiphyseal dysplasia + 'Otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 11 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_217012 Label(s): Spinocerebellar ataxia type 31 + 'Spinocerebellar ataxia type 31' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type III' Class: http://www.orpha.net/ORDO/Orphanet_216981 Label(s): Niemann-Pick disease type C, juvenile neurologic onset + 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Niemann-Pick disease type C' Class: http://www.orpha.net/ORDO/Orphanet_84142 Label(s): Isaacs syndrome + 'Isaacs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune neurological channelopathy' + 'Isaacs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired peripheral movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_216978 Label(s): Niemann-Pick disease type C, late infantile neurologic onset + 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Niemann-Pick disease type C' Class: http://www.orpha.net/ORDO/Orphanet_363528 Label(s): Intellectual disability-strabismus syndrome + 'Intellectual disability-strabismus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Intellectual disability-strabismus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-strabismus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Intellectual disability-strabismus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_284227 Label(s): TEMPI syndrome + 'TEMPI syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_216975 Label(s): Niemann-Pick disease type C, severe early infantile neurologic onset + 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Niemann-Pick disease type C' Class: http://www.orpha.net/ORDO/Orphanet_2089 Label(s): Glycogen storage disease due to hepatic glycogen synthase deficiency + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glycogen synthase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_216972 Label(s): Niemann-Pick disease type C, severe perinatal form + 'Niemann-Pick disease type C, severe perinatal form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Niemann-Pick disease type C' Class: http://www.orpha.net/ORDO/Orphanet_2087 Label(s): Glomerulonephritis-sparse hair-telangiectasis syndrome + 'Glomerulonephritis-sparse hair-telangiectasis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123747 Label(s): NADH:ubiquinone oxidoreductase core subunit V2 + 'NADH:ubiquinone oxidoreductase core subunit V2' SubClassOf 'disease-causing germline mutation(s) in' some 'Progressive cavitating leukoencephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_2085 Label(s): Glaucoma-sleep apnea syndrome + 'Glaucoma-sleep apnea syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Glaucoma-sleep apnea syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare sleep disorder' Class: http://www.orpha.net/ORDO/Orphanet_2084 Label(s): Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome + 'Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' + 'Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microspherophakia' Class: http://www.orpha.net/ORDO/Orphanet_410099 Label(s): Israel - 'Israel' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_3354 Label(s): OBSOLETE: Tricho-oculo-dermo-vertebral syndrome + 'OBSOLETE: Tricho-oculo-dermo-vertebral syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arthrogryposis-ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_410096 Label(s): Iraq - 'Iraq' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_528663 Label(s): Acquired angioedema with C1Inh deficiency + 'Acquired angioedema with C1Inh deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired angioedema' Class: http://www.orpha.net/ORDO/Orphanet_410094 Label(s): Indonesia - 'Indonesia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410093 Label(s): India - 'India' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410092 Label(s): Iceland - 'Iceland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_119306 Label(s): cyclin dependent kinase inhibitor 2A - 'cyclin dependent kinase inhibitor 2A' SubClassOf 'disease-causing somatic mutation(s) in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'cyclin dependent kinase inhibitor 2A' SubClassOf 'biomarker tested in' some 'B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)' + 'cyclin dependent kinase inhibitor 2A' SubClassOf 'disease-causing somatic mutation(s) in' some 'Adrenocortical carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_410090 Label(s): Hong Kong - 'Hong Kong' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_632 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic agammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_328 Label(s): Congenital factor X deficiency + 'Congenital factor X deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital vitamin K-dependent coagulation factors deficiency' Class: http://www.orpha.net/ORDO/Orphanet_566175 Label(s): Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome + 'Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal lymphangiectasia' + 'Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory bowel disease' + 'Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_3010 Label(s): Qazi-Markouizos syndrome + 'Qazi-Markouizos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Qazi-Markouizos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' + 'Qazi-Markouizos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Qazi-Markouizos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Qazi-Markouizos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_84132 Label(s): Desmin-related myopathy with Mallory body-like inclusions + 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inclusion myopathy' + 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of desmin' + 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of selenoprotein N1' Class: http://www.orpha.net/ORDO/Orphanet_2078 Label(s): Geroderma osteodysplastica + 'Geroderma osteodysplastica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'Geroderma osteodysplastica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutis laxa' Class: http://www.orpha.net/ORDO/Orphanet_2077 Label(s): German syndrome + 'German syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital primary lymphedema without systemic or visceral involvement' + 'German syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'German syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis syndrome' + 'German syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2074 Label(s): Gemignani syndrome + 'Gemignani syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive syndromic cerebellar ataxia' + 'Gemignani syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3363 Label(s): Trichomegaly-retina pigmentary degeneration-dwarfism syndrome + 'Trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2072 Label(s): Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome + 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculomotor apraxia' + 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gaucher disease' Class: http://www.orpha.net/ORDO/Orphanet_3365 Label(s): Trigonocephaly-broad thumbs syndrome + 'Trigonocephaly-broad thumbs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_410086 Label(s): Haiti - 'Haiti' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_3368 Label(s): Trigonocephaly-bifid nose-acral anomalies syndrome + 'Trigonocephaly-bifid nose-acral anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Trigonocephaly-bifid nose-acral anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3369 Label(s): Trigonocephaly-short stature-developmental delay syndrome + 'Trigonocephaly-short stature-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Trigonocephaly-short stature-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Trigonocephaly-short stature-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_335 Label(s): Congenital fibrinogen deficiency + 'Congenital fibrinogen deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_1167 Label(s): OBSOLETE: Facial asymmetry-temporal seizures syndrome + 'OBSOLETE: Facial asymmetry-temporal seizures syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_52183 Label(s): Premature chromosome condensation with microcephaly and intellectual disability + 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive primary microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_522037 Label(s): Primary autoimmune enteropathy + 'Primary autoimmune enteropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Severe immune-mediated enteropathy' + 'Primary autoimmune enteropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_48818 Label(s): Aceruloplasminemia + 'Aceruloplasminemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of iron metabolism and transport' + 'Aceruloplasminemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional anemia due to iron metabolism disorder' + 'Aceruloplasminemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Aceruloplasminemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_1432 Label(s): Autosomal dominant chorioretinopathy-microcephaly syndrome + 'Autosomal dominant chorioretinopathy-microcephaly syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Microcephaly-lymphedema-chorioretinopathy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_208513 Label(s): Spinocerebellar ataxia type 29 + 'Spinocerebellar ataxia type 29' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_538931 Label(s): X-linked lymphoproliferative disease due to SH2D1A deficiency + 'X-linked lymphoproliferative disease due to SH2D1A deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_2067 Label(s): GAPO syndrome + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic keratoconus' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic keratoconus' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2066 Label(s): Gamma-aminobutyric acid transaminase deficiency + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic neurotransmission anomaly with epilepsy' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of beta and omega amino acid metabolism' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of gamma-aminobutyric acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_404507 Label(s): Chondromyxoid fibroma + 'Chondromyxoid fibroma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_225968 Label(s): OBSOLETE: Inherited predisposition to essential thrombocythemia + 'OBSOLETE: Inherited predisposition to essential thrombocythemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Essential thrombocythemia' Class: http://www.orpha.net/ORDO/Orphanet_528647 Label(s): Hereditary angioedema with normal C1Inh + 'Hereditary angioedema with normal C1Inh' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary angioedema' Class: http://www.orpha.net/ORDO/Orphanet_226316 Label(s): Genetic transient congenital hypothyroidism + 'Genetic transient congenital hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Transient congenital hypothyroidism due to neonatal factor' + 'Genetic transient congenital hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_3375 Label(s): Trisomy X + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function' + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polysomy of X chromosome' Class: http://www.orpha.net/ORDO/Orphanet_330064 Label(s): Chronic actinic dermatitis + 'Chronic actinic dermatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_254463 Label(s): Lichen planus pigmentosus + 'Lichen planus pigmentosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_330061 Label(s): Actinic prurigo + 'Actinic prurigo' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_228374 Label(s): Charcot-Marie-Tooth disease type 2B5 + 'Charcot-Marie-Tooth disease type 2B5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_314034 Label(s): 7p22.1 microduplication syndrome + '7p22.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '7p22.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '7p22.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_347 Label(s): Frasier syndrome + 'Frasier syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Frasier syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Frasier syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'Frasier syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' Class: http://www.orpha.net/ORDO/Orphanet_3022 Label(s): Rapp-Hodgkin syndrome + 'Rapp-Hodgkin syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' Class: http://www.orpha.net/ORDO/Orphanet_94095 Label(s): OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome + 'OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_2059 Label(s): Fryns syndrome + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_94091 Label(s): Mills syndrome + 'Mills syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_94090 Label(s): Pseudohypoparathyroidism type 2 + 'Pseudohypoparathyroidism type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoparathyroidism without Albright hereditary osteodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2056 Label(s): Essential fructosuria + 'Essential fructosuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of fructose metabolism' Class: http://www.orpha.net/ORDO/Orphanet_3026 Label(s): Radial ray hypoplasia-choanal atresia syndrome + 'Radial ray hypoplasia-choanal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' + 'Radial ray hypoplasia-choanal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Radial ray hypoplasia-choanal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nose and cavum anomaly' + 'Radial ray hypoplasia-choanal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_330058 Label(s): Hydroa vacciniforme + 'Hydroa vacciniforme' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_3383 Label(s): Humerus trochlea aplasia + 'Humerus trochlea aplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Humerus trochlea aplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_330054 Label(s): Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome + 'Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' Class: http://www.orpha.net/ORDO/Orphanet_3387 Label(s): Isolated anterior cervical hypertrichosis + 'Isolated anterior cervical hypertrichosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' Class: http://www.orpha.net/ORDO/Orphanet_231742 Label(s): Epibulbar lipodermoid-preauricular appendage-polythelia syndrome + 'Epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_410063 Label(s): Faroe Islands - 'Faroe Islands' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_330050 Label(s): DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect + 'DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Encephalopathy due to mitochondrial and peroxisomal fission defect' Class: http://www.orpha.net/ORDO/Orphanet_410060 Label(s): Estonia - 'Estonia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_94089 Label(s): Pseudohypoparathyroidism type 1B + 'Pseudohypoparathyroidism type 1B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoparathyroidism without Albright hereditary osteodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_94088 Label(s): Hereditary renal hypouricemia + 'Hereditary renal hypouricemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Hereditary renal hypouricemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Hereditary renal hypouricemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_94087 Label(s): Cytophagic histiocytic panniculitis + 'Cytophagic histiocytic panniculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_94086 Label(s): Blue diaper syndrome + 'Blue diaper syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of amino acid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_54368 Label(s): Sarcocystosis + 'Sarcocystosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_94084 Label(s): Cerebro-oculo-facial-lymphatic syndrome + 'Cerebro-oculo-facial-lymphatic syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Baraitser-Winter cerebrofrontofacial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_94083 Label(s): Partington syndrome + 'Partington syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Partington syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ARX-related epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_94080 Label(s): Non-functioning paraganglioma + 'Non-functioning paraganglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pheochromocytoma-paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_86309 Label(s): DPAGT1-CDG + 'DPAGT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'DPAGT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'DPAGT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_3391 Label(s): Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome + 'Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Scalp-ear-nipple syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254449 Label(s): Atrophic lichen planus + 'Atrophic lichen planus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_410059 Label(s): Eritrea - 'Eritrea' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410057 Label(s): El Salvador - 'El Salvador' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410056 Label(s): Egypt - 'Egypt' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_528623 Label(s): Hereditary angioedema with C1Inh deficiency + 'Hereditary angioedema with C1Inh deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serpinopathy with loss of serpin function' + 'Hereditary angioedema with C1Inh deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary angioedema' Class: http://www.orpha.net/ORDO/Orphanet_330041 Label(s): Hemoglobin M disease + 'Hemoglobin M disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemoglobinopathy' + 'Hemoglobin M disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_140286 Label(s): Secondary hypoparathyroidism due to impaired parathormon secretion + 'Secondary hypoparathyroidism due to impaired parathormon secretion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_410051 Label(s): Denmark - 'Denmark' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410050 Label(s): Czech Republic - 'Czech Republic' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_220295 Label(s): Xeroderma pigmentosum-Cockayne syndrome complex + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with entropion' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic photodermatosis' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary ectropion' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with entropion' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_1199 Label(s): Esophageal atresia + 'Esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic esophageal malformation' Class: http://www.orpha.net/ORDO/Orphanet_654 Label(s): Nephroblastoma + 'Nephroblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tumor' + 'Nephroblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Nephroblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tumor' Class: http://www.orpha.net/ORDO/Orphanet_231226 Label(s): Dominant beta-thalassemia + 'Dominant beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beta-thalassemia' Class: http://www.orpha.net/ORDO/Orphanet_570491 Label(s): QRSL1-related combined oxidative phosphorylation defect + 'QRSL1-related combined oxidative phosphorylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'QRSL1-related combined oxidative phosphorylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_659 Label(s): Mutilating palmoplantar keratoderma with periorificial keratotic plaques + 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_2039 Label(s): Congenital systemic arteriovenous fistula + 'Congenital systemic arteriovenous fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital arteriovenous fistula' Class: http://www.orpha.net/ORDO/Orphanet_2038 Label(s): Pulmonary arteriovenous malformation + 'Pulmonary arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Pulmonary arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare arteriovenous malformation' + 'Pulmonary arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2035 Label(s): Lymphatic filariasis + 'Lymphatic filariasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filariasis' Class: http://www.orpha.net/ORDO/Orphanet_410049 Label(s): Cyprus - 'Cyprus' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410048 Label(s): Cuba - 'Cuba' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410047 Label(s): Croatia - 'Croatia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_2030 Label(s): Fibrosarcoma + 'Fibrosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' + 'Fibrosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bone sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_238583 Label(s): Hyperphenylalaninemia due to tetrahydrobiopterin deficiency + 'Hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pterin metabolism' Class: http://www.orpha.net/ORDO/Orphanet_330032 Label(s): Hemoglobin Lepore-beta-thalassemia syndrome + 'Hemoglobin Lepore-beta-thalassemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beta-thalassemia associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1447 Label(s): Ring chromosome 4 syndrome + 'Ring chromosome 4 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_410040 Label(s): Colombia - 'Colombia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_300293 Label(s): Transient infantile hypertriglyceridemia and hepatosteatosis + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' Class: http://www.orpha.net/ORDO/Orphanet_166035 Label(s): Brachydactyly-short stature-retinitis pigmentosa syndrome + 'Brachydactyly-short stature-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brachydactyly-short stature-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Brachydactyly-short stature-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brachydactyly-short stature-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_94068 Label(s): Spondyloepiphyseal dysplasia congenita + 'Spondyloepiphyseal dysplasia congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Spondyloepiphyseal dysplasia congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_94066 Label(s): Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia + 'Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_94065 Label(s): 15q24 microdeletion syndrome + '15q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Witteveen-Kolk syndrome' + '15q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 15' Class: http://www.orpha.net/ORDO/Orphanet_94064 Label(s): Deafness-infertility syndrome + 'Deafness-infertility syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Deafness-infertility syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to sperm motility disorder' + 'Deafness-infertility syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 15' Class: http://www.orpha.net/ORDO/Orphanet_755 Label(s): Leydig cell hypoplasia + 'Leydig cell hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to testicular endocrine disorder' + 'Leydig cell hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development due to impaired androgen production' Class: http://www.orpha.net/ORDO/Orphanet_94061 Label(s): OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome + 'OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_2026 Label(s): Gingival fibromatosis-hypertrichosis syndrome + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' Class: http://www.orpha.net/ORDO/Orphanet_330029 Label(s): Hypotrichosis-deafness syndrome + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Erythrokeratoderma variabilis progressiva' + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98470 Label(s): OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly + 'OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2023 Label(s): Undifferentiated pleomorphic sarcoma + 'Undifferentiated pleomorphic sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bone sarcoma' + 'Undifferentiated pleomorphic sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_2022 Label(s): Endocardial fibroelastosis + 'Endocardial fibroelastosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial restrictive cardiomyopathy' + 'Endocardial fibroelastosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial dilated cardiomyopathy' + 'Endocardial fibroelastosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for heart transplant' Class: http://www.orpha.net/ORDO/Orphanet_410037 Label(s): China - 'China' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_2020 Label(s): Congenital fiber-type disproportion myopathy + 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of selenoprotein N1' + 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of tropomyosin' + 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' + 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of alpha-actin' Class: http://www.orpha.net/ORDO/Orphanet_96269 Label(s): Isolated partial vaginal agenesis + 'Isolated partial vaginal agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_759 Label(s): Central precocious puberty + 'Central precocious puberty' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare precocious puberty' + 'Central precocious puberty' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Precocious puberty in female' Class: http://www.orpha.net/ORDO/Orphanet_330021 Label(s): Mercury poisoning + 'Mercury poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_96266 Label(s): Leydig cell hypoplasia due to partial LH resistance + 'Leydig cell hypoplasia due to partial LH resistance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leydig cell hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_96265 Label(s): Leydig cell hypoplasia due to complete LH resistance + 'Leydig cell hypoplasia due to complete LH resistance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leydig cell hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_96264 Label(s): 49,XXXXY syndrome + '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X chromosome number anomaly with male phenotype' + '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sex chromosome disorder of sex development' + '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to gonadal dysgenesis' + '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_96263 Label(s): 48,XXXY syndrome + '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sex chromosome disorder of sex development' + '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to gonadal dysgenesis' + '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X chromosome number anomaly with male phenotype' + '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_300284 Label(s): Connective tissue disorder due to lysyl hydroxylase-3 deficiency + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary connective tissue disease' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' Class: http://www.orpha.net/ORDO/Orphanet_664 Label(s): Ornithine transcarbamylase deficiency + 'Ornithine transcarbamylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Ornithine transcarbamylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of urea cycle metabolism and ammonia detoxification' Class: http://www.orpha.net/ORDO/Orphanet_456369 Label(s): Polyglucosan body myopathy type 2 + 'Polyglucosan body myopathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' + 'Polyglucosan body myopathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Polyglucosan body myopathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_94059 Label(s): Uremic pruritus + 'Uremic pruritus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_94058 Label(s): Neovascular glaucoma + 'Neovascular glaucoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital malformation of the eye with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_252212 Label(s): Malignant triton tumor + 'Malignant triton tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant peripheral nerve sheath tumor' Class: http://www.orpha.net/ORDO/Orphanet_94056 Label(s): Humero-ulnar synostosis + 'Humero-ulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joint formation defects' Class: http://www.orpha.net/ORDO/Orphanet_98468 Label(s): OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly + 'OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_46135 Label(s): Primary central nervous system lymphoma + 'Primary central nervous system lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary organ-specific lymphoma' + 'Primary central nervous system lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Primary central nervous system lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nervous system tumor' Class: http://www.orpha.net/ORDO/Orphanet_2019 Label(s): Femur-fibula-ulna complex + 'Femur-fibula-ulna complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with combined reduction defects of upper and lower limbs' Class: http://www.orpha.net/ORDO/Orphanet_98464 Label(s): OBSOLETE: X-linked syndromic intellectual disability + 'OBSOLETE: X-linked syndromic intellectual disability' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_137577 Label(s): Neonatal hypoxic and ischemic brain injury + 'Neonatal hypoxic and ischemic brain injury' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_3046 Label(s): OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type + 'OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_289685 Label(s): Myopericytoma + 'Myopericytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' + 'Myopericytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr Virus-associated mesenchymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_330015 Label(s): Lead poisoning + 'Lead poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_410026 Label(s): Bulgaria - 'Bulgaria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_330012 Label(s): High altitude pulmonary edema + 'High altitude pulmonary edema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_410023 Label(s): Brazil - 'Brazil' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410020 Label(s): Bosnia and Herzegovina - 'Bosnia and Herzegovina' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_240989 Label(s): OBSOLETE: Susceptibility to adverse reaction due to venlafaxine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to venlafaxine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_241969 Label(s): thymidylate synthetase + 'thymidylate synthetase' SubClassOf 'disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' Class: http://www.orpha.net/ORDO/Orphanet_309334 Label(s): Salla disease + 'Salla disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Free sialic acid storage disease' Class: http://www.orpha.net/ORDO/Orphanet_252206 Label(s): Melanoma and neural system tumor syndrome + 'Melanoma and neural system tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Melanoma and neural system tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_252202 Label(s): Constitutional mismatch repair deficiency syndrome + 'Constitutional mismatch repair deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' + 'Constitutional mismatch repair deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' + 'Constitutional mismatch repair deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_26793 Label(s): Very long chain acyl-CoA dehydrogenase deficiency + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular lipidosis' + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_26792 Label(s): Short chain acyl-CoA dehydrogenase deficiency + 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular lipidosis' + 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_26790 Label(s): Pseudomyxoma peritonei + 'Pseudomyxoma peritonei' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary peritoneal tumor' Class: http://www.orpha.net/ORDO/Orphanet_2007 Label(s): Alar cartilages hypoplasia-coloboma-telecanthus syndrome + 'Alar cartilages hypoplasia-coloboma-telecanthus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Alar cartilages hypoplasia-coloboma-telecanthus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_276402 Label(s): OBSOLETE: Limbic encephalitis with caspr2 antibodies + 'OBSOLETE: Limbic encephalitis with caspr2 antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_330009 Label(s): OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk + 'OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Poliomyelitis' Class: http://www.orpha.net/ORDO/Orphanet_2004 Label(s): Laryngotracheoesophageal cleft + 'Laryngotracheoesophageal cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Laryngotracheoesophageal cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic esophageal malformation' + 'Laryngotracheoesophageal cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' + 'Laryngotracheoesophageal cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_410019 Label(s): Bolivia - 'Bolivia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_2001 Label(s): Cleft lip/palate-intestinal malrotation-cardiopathy syndrome + 'Cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_410015 Label(s): Belize - 'Belize' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410014 Label(s): Belgium - 'Belgium' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_330001 Label(s): Wild type ATTR amyloidosis + 'Wild type ATTR amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amyloidosis' + 'Wild type ATTR amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_410010 Label(s): Bahrain - 'Bahrain' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_1458 Label(s): CODAS syndrome + 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_674 Label(s): Accessory pancreas + 'Accessory pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_36205 Label(s): OBSOLETE: Collagenous colitis + 'OBSOLETE: Collagenous colitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_676 Label(s): Hereditary chronic pancreatitis + 'Hereditary chronic pancreatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' + 'Hereditary chronic pancreatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pancreatic disease' + 'Hereditary chronic pancreatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'Hereditary chronic pancreatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic pancreatic disease' Class: http://www.orpha.net/ORDO/Orphanet_412217 Label(s): Dystonia-aphonia syndrome + 'Dystonia-aphonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' Class: http://www.orpha.net/ORDO/Orphanet_279753 Label(s): B9 domain containing 2 + 'B9 domain containing 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_431347 Label(s): Urachal diverticulum + 'Urachal diverticulum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital urachal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_207009 Label(s): OBSOLETE: Acquired rod-body myopathy + 'OBSOLETE: Acquired rod-body myopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_102724 Label(s): Acute myeloid leukemia with t(8;21)(q22;q22) translocation + 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_207006 Label(s): OBSOLETE: Acquired amyloid myopathy + 'OBSOLETE: Acquired amyloid myopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_83593 Label(s): Western equine encephalitis + 'Western equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' + 'Western equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_410007 Label(s): Austria - 'Austria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410006 Label(s): Australia - 'Australia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410004 Label(s): Armenia - 'Armenia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410003 Label(s): Argentina - 'Argentina' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_412206 Label(s): Primary failure of tooth eruption + 'Primary failure of tooth eruption' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontal or periodontal disorder' + 'Primary failure of tooth eruption' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_456333 Label(s): Hereditary neuroendocrine tumor of small intestine + 'Hereditary neuroendocrine tumor of small intestine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited digestive cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98434 Label(s): Hereditary combined deficiency of vitamin K-dependent clotting factors + 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital vitamin K-dependent coagulation factors deficiency' Class: http://www.orpha.net/ORDO/Orphanet_276422 Label(s): 10q22.3q23.3 microduplication syndrome + '10q22.3q23.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 10' Class: http://www.orpha.net/ORDO/Orphanet_314950 Label(s): Primary hypereosinophilic syndrome + 'Primary hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypereosinophilic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_64280 Label(s): Childhood absence epilepsy + 'Childhood absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' + 'Childhood absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic calcium channel defect' + 'Childhood absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect' Class: http://www.orpha.net/ORDO/Orphanet_498251 Label(s): Menstrual cycle-dependent periodic fever + 'Menstrual cycle-dependent periodic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomaly of puberty or/and menstrual cycle' Class: http://www.orpha.net/ORDO/Orphanet_252031 Label(s): Diffuse leptomeningeal melanocytosis + 'Diffuse leptomeningeal melanocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary melanocytic tumor of central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_254395 Label(s): Actinic lichen planus + 'Actinic lichen planus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_268770 Label(s): Upper thoracic spina bifida cystica + 'Upper thoracic spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelomeningocele' Class: http://www.orpha.net/ORDO/Orphanet_254704 Label(s): Genetic hyperferritinemia without iron overload + 'Genetic hyperferritinemia without iron overload' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Biological anomaly without phenotypic characterization' Class: http://www.orpha.net/ORDO/Orphanet_255241 Label(s): Leigh syndrome with leukodystrophy + 'Leigh syndrome with leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Leigh syndrome with leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139165 Label(s): ETS variant transcription factor 6 - 'ETS variant transcription factor 6' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'ETS variant transcription factor 6' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)' Class: http://www.orpha.net/ORDO/Orphanet_3065 Label(s): X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome + 'X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Monoamine oxidase A deficiency' Class: http://www.orpha.net/ORDO/Orphanet_276435 Label(s): Lower motor neuron syndrome with late-adult onset + 'Lower motor neuron syndrome with late-adult onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_1465 Label(s): Coffin-Siris syndrome + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_98454 Label(s): OBSOLETE: Platelet storage pool disease + 'OBSOLETE: Platelet storage pool disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_96253 Label(s): Cushing disease + 'Cushing disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ACTH-dependent Cushing syndrome' + 'Cushing disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_488434 Label(s): Camptodactyly syndrome, Guadalajara type 3 + 'Camptodactyly syndrome, Guadalajara type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with limb anomaly as a major feature' + 'Camptodactyly syndrome, Guadalajara type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis of genetic origin with limb anomaly as a major feature' + 'Camptodactyly syndrome, Guadalajara type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_268766 Label(s): Cervicothoracic spina bifida cystica + 'Cervicothoracic spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelomeningocele' Class: http://www.orpha.net/ORDO/Orphanet_268762 Label(s): Cervical spina bifida cystica + 'Cervical spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelomeningocele' Class: http://www.orpha.net/ORDO/Orphanet_456318 Label(s): Hereditary sensory neuropathy-deafness-dementia syndrome + 'Hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease with dementia' + 'Hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_456312 Label(s): Infantile multisystem neurologic-endocrine-pancreatic disease + 'Infantile multisystem neurologic-endocrine-pancreatic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' + 'Infantile multisystem neurologic-endocrine-pancreatic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' + 'Infantile multisystem neurologic-endocrine-pancreatic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Infantile multisystem neurologic-endocrine-pancreatic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Infantile multisystem neurologic-endocrine-pancreatic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pancreatic disease' + 'Infantile multisystem neurologic-endocrine-pancreatic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic pancreatic disease' + 'Infantile multisystem neurologic-endocrine-pancreatic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_457351 Label(s): Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome + 'Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' + 'Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cortical involvement' + 'Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_268758 Label(s): Lumbosacral spina bifida cystica + 'Lumbosacral spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelomeningocele' Class: http://www.orpha.net/ORDO/Orphanet_96201 Label(s): X small rings + 'X small rings' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'X small rings' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'X small rings' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + 'X small rings' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function' + 'X small rings' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosome X structural anomaly' Class: http://www.orpha.net/ORDO/Orphanet_35121 Label(s): Lysosomal acid phosphatase deficiency + 'Lysosomal acid phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease' Class: http://www.orpha.net/ORDO/Orphanet_35122 Label(s): Congenital sucrase-isomaltase deficiency + 'Congenital sucrase-isomaltase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of carbohydrate absorption and transport' + 'Congenital sucrase-isomaltase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital intestinal disease due to an enzymatic defect' Class: http://www.orpha.net/ORDO/Orphanet_268752 Label(s): Thoracolumbosacral spina bifida cystica + 'Thoracolumbosacral spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelomeningocele' Class: http://www.orpha.net/ORDO/Orphanet_182127 Label(s): Extragonadal germinoma + 'Extragonadal germinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_3074 Label(s): Intellectual disability-short stature-hypertelorism syndrome + 'Intellectual disability-short stature-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-short stature-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_601023 Label(s): Non-syndromic anorectal malformation with rectal stenosis + 'Non-syndromic anorectal malformation with rectal stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_498228 Label(s): Phyllodes tumor of the prostate + 'Phyllodes tumor of the prostate' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urinary tract tumor' Class: http://www.orpha.net/ORDO/Orphanet_3078 Label(s): Severe X-linked intellectual disability, Gustavson type + 'Severe X-linked intellectual disability, Gustavson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe X-linked intellectual disability, Gustavson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe X-linked intellectual disability, Gustavson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_457365 Label(s): Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome + 'Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_268748 Label(s): Total spina bifida cystica + 'Total spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelomeningocele' Class: http://www.orpha.net/ORDO/Orphanet_263553 Label(s): Peeling skin syndrome type B + 'Peeling skin syndrome type B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Generalized peeling skin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166073 Label(s): Pontocerebellar hypoplasia type 6 + 'Pontocerebellar hypoplasia type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_268740 Label(s): Upper thoracic spina bifida aperta + 'Upper thoracic spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_268369 Label(s): Spina bifida aperta + 'Spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated spina bifida' Class: http://www.orpha.net/ORDO/Orphanet_1474 Label(s): Colobomatous-microphthalmia-heart disease-hearing loss syndrome + 'Colobomatous-microphthalmia-heart disease-hearing loss syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'CHARGE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_269215 Label(s): Isolated Dandy-Walker malformation without hydrocephalus + 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated Dandy-Walker malformation' Class: http://www.orpha.net/ORDO/Orphanet_254411 Label(s): Annular atrophic lichen planus + 'Annular atrophic lichen planus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_1475 Label(s): Renal coloboma syndrome + 'Renal coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Renal coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with optic disc malformation' Class: http://www.orpha.net/ORDO/Orphanet_103908 Label(s): Congenital sodium diarrhea + 'Congenital sodium diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital intestinal transport defect' + 'Congenital sodium diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intractable diarrhea of infancy' + 'Congenital sodium diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_300208 Label(s): calcium voltage-gated channel auxiliary subunit alpha2delta 1 + 'calcium voltage-gated channel auxiliary subunit alpha2delta 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_231671 Label(s): Isolated growth hormone deficiency type IB + 'Isolated growth hormone deficiency type IB' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired isolated growth hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_36234 Label(s): Bacterial toxic-shock syndrome + 'Bacterial toxic-shock syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_391723 Label(s): Mucinous adenocarcinoma of the appendix + 'Mucinous adenocarcinoma of the appendix' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epithelial tumor of the appendix' Class: http://www.orpha.net/ORDO/Orphanet_36236 Label(s): Staphylococcal scalded skin syndrome + 'Staphylococcal scalded skin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Staphylococcal toxemia' Class: http://www.orpha.net/ORDO/Orphanet_314597 Label(s): Chudley-McCullough syndrome + 'Chudley-McCullough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Chudley-McCullough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Chudley-McCullough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Chudley-McCullough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_306553 Label(s): Myospherulosis + 'Myospherulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare maxillo-facial surgical disease' + 'Myospherulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_443057 Label(s): Sporadic porphyria cutanea tarda + 'Sporadic porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Porphyria cutanea tarda' Class: http://www.orpha.net/ORDO/Orphanet_94093 Label(s): Neuroleptic malignant syndrome + 'Neuroleptic malignant syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with malignant hyperthermia' Class: http://www.orpha.net/ORDO/Orphanet_314588 Label(s): Distal tetrasomy 15q + 'Distal tetrasomy 15q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '15q overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_294937 Label(s): OBSOLETE: Brachydactyly + 'OBSOLETE: Brachydactyly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_66529 Label(s): Tako-Tsubo cardiomyopathy + 'Tako-Tsubo cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_314585 Label(s): 15q overgrowth syndrome + '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 15' + '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal disease with overgrowth' Class: http://www.orpha.net/ORDO/Orphanet_217049 Label(s): OBSOLETE: Rare non-syndromic cataract + 'OBSOLETE: Rare non-syndromic cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_276152 Label(s): Multiple endocrine neoplasia type 4 + 'Multiple endocrine neoplasia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple endocrine neoplasia' Class: http://www.orpha.net/ORDO/Orphanet_3092 Label(s): Fixed subaortic stenosis + 'Fixed subaortic stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_314575 Label(s): Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome + 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_314572 Label(s): Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome + 'Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebral small vessel disease' Class: http://www.orpha.net/ORDO/Orphanet_279947 Label(s): Postorgasmic illness syndrome + 'Postorgasmic illness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_3096 Label(s): Reye syndrome + 'Reye syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_103917 Label(s): OBSOLETE: Autoimmune enteropathy type 3 + 'OBSOLETE: Autoimmune enteropathy type 3' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic autoimmune enteropathy' Class: http://www.orpha.net/ORDO/Orphanet_180275 Label(s): Paget disease of the nipple + 'Paget disease of the nipple' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare malignant breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_443079 Label(s): Central serous chorioretinopathy + 'Central serous chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated chorioretinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_140896 Label(s): Severe acute respiratory syndrome + 'Severe acute respiratory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Severe acute respiratory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_156156 Label(s): Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy + 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Atypical Werner syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166096 Label(s): Von Willebrand disease type 3 + 'Von Willebrand disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Von Willebrand disease' Class: http://www.orpha.net/ORDO/Orphanet_600668 Label(s): CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome + 'CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_314566 Label(s): Primary progressive apraxia of speech + 'Primary progressive apraxia of speech' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_363717 Label(s): Alexander disease type I + 'Alexander disease type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alexander disease' Class: http://www.orpha.net/ORDO/Orphanet_314555 Label(s): Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome + 'Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant craniofacial involvement' + 'Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder involving multiple structures of the eye' + 'Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontal or periodontal disorder' + 'Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder involving multiple structures of the eye' + 'Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2229 Label(s): Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome + 'Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' + 'Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with striated muscle involvement' + 'Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_263482 Label(s): Spondyloepiphyseal dysplasia, Maroteaux type + 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'TRPV4-related bone disorder' + 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1788 Label(s): Acrofacial dysostosis, Rodríguez type + 'Acrofacial dysostosis, Rodríguez type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acrofacial dysostosis, Rodríguez type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Acrofacial dysostosis, Rodríguez type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acrofacial dysostosis, Rodríguez type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Rodríguez type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_443098 Label(s): Hyperostosis cranialis interna + 'Hyperostosis cranialis interna' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' + 'Hyperostosis cranialis interna' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_435372 Label(s): Anterior urethral valve + 'Anterior urethral valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fetal lower urinary tract obstruction' Class: http://www.orpha.net/ORDO/Orphanet_519410 Label(s): Terrien marginal degeneration + 'Terrien marginal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with corneal involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_156731 Label(s): Dyssegmental dysplasia, Rolland-Desbuquois type + 'Dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_284979 Label(s): Neonatal Marfan syndrome + 'Neonatal Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Neonatal Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome and Marfan-related disorders' Class: http://www.orpha.net/ORDO/Orphanet_1997 Label(s): Blepharo-cheilo-odontic syndrome + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital ectropion' + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1995 Label(s): Cleft lip-retinopathy syndrome + 'Cleft lip-retinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip-retinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip-retinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Cleft lip-retinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_1993 Label(s): Pai syndrome + 'Pai syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' + 'Pai syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_263487 Label(s): COG5-CDG + 'COG5-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Defect in conserved oligomeric Golgi complex' + 'COG5-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'COG5-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1902 Label(s): Ehrlichiosis + 'Ehrlichiosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rickettsial disease' Class: http://www.orpha.net/ORDO/Orphanet_481665 Label(s): USP18 deficiency + 'USP18 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'USP18 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' + 'USP18 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neurological disorder' + 'USP18 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' Class: http://www.orpha.net/ORDO/Orphanet_289682 Label(s): Lymphoepithelial-like carcinoma + 'Lymphoepithelial-like carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr Virus-associated carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_481662 Label(s): Familial Chilblain lupus + 'Familial Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Familial Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'Familial Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'Familial Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Familial Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Familial Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' + 'Familial Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_156728 Label(s): Spondyloepimetaphyseal dysplasia, matrilin-3 type + 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_199244 Label(s): Nelson syndrome + 'Nelson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_1909 Label(s): Indomethacin embryofetopathy + 'Indomethacin embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' + 'Indomethacin embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_156723 Label(s): Piepkorn dysplasia + 'Piepkorn dysplasia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Boomerang dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_254478 Label(s): Lichen planus pemphigoides + 'Lichen planus pemphigoides' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_1988 Label(s): Femoral-facial syndrome + 'Femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_1987 Label(s): Femoral agenesis/hypoplasia + 'Femoral agenesis/hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intercalary limb defects' Class: http://www.orpha.net/ORDO/Orphanet_1986 Label(s): Gollop-Wolfgang complex + 'Gollop-Wolfgang complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Gollop-Wolfgang complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' + 'Gollop-Wolfgang complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Gollop-Wolfgang complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Gollop-Wolfgang complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with combined reduction defects of upper and lower limbs' Class: http://www.orpha.net/ORDO/Orphanet_1984 Label(s): Fechtner syndrome + 'Fechtner syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MYH9-related disease' Class: http://www.orpha.net/ORDO/Orphanet_96126 Label(s): Distal monosomy 7p + 'Distal monosomy 7p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_1981 Label(s): Fanconi syndrome-ichthyosis-dysmorphism syndrome + 'Fanconi syndrome-ichthyosis-dysmorphism syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Arthrogryposis-renal dysfunction-cholestasis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206991 Label(s): Viral myositis + 'Viral myositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious, fungal or parasitic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_1979 Label(s): Lipodystrophy due to peptidic growth factors deficiency + 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_209370 Label(s): Severe neonatal-onset encephalopathy with microcephaly + 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal epilepsy syndrome' + 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1974 Label(s): Autosomal recessive faciodigitogenital syndrome + 'Autosomal recessive faciodigitogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Autosomal recessive faciodigitogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Autosomal recessive faciodigitogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Autosomal recessive faciodigitogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Autosomal recessive faciodigitogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1973 Label(s): Faciocardiorenal syndrome + 'Faciocardiorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Faciocardiorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Faciocardiorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_171439 Label(s): Childhood-onset nemaline myopathy + 'Childhood-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of nebulin' + 'Childhood-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nemaline myopathy' + 'Childhood-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of tropomyosin' + 'Childhood-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of alpha-actin' Class: http://www.orpha.net/ORDO/Orphanet_1928 Label(s): Congenital lobar emphysema + 'Congenital lobar emphysema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic respiratory malformation' + 'Congenital lobar emphysema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital lobar emphysema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_293888 Label(s): Familial isolated arrhythmogenic ventricular dysplasia, left dominant form + 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial isolated arrhythmogenic right ventricular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_276432 Label(s): Ogden syndrome + 'Ogden syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ogden syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ogden syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Ogden syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295085 Label(s): OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral + 'OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of upper arm and forearm with hand present' Class: http://www.orpha.net/ORDO/Orphanet_1968 Label(s): Flat face-microstomia-ear anomaly syndrome + 'Flat face-microstomia-ear anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Flat face-microstomia-ear anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_206979 Label(s): OBSOLETE: Granulomatous myositis + 'OBSOLETE: Granulomatous myositis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_1964 Label(s): Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome + 'Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_240071 Label(s): Classic progressive supranuclear palsy syndrome + 'Classic progressive supranuclear palsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive supranuclear palsy' Class: http://www.orpha.net/ORDO/Orphanet_276429 Label(s): Hypnic headache + 'Hypnic headache' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare headache' Class: http://www.orpha.net/ORDO/Orphanet_562569 Label(s): TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome + 'TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_199276 Label(s): Familial multiple lipomatosis + 'Familial multiple lipomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' + 'Familial multiple lipomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic subcutaneous tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_613317 Label(s): adaptor related protein complex 1 subunit gamma 1 - 'adaptor related protein complex 1 subunit gamma 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'adaptor related protein complex 1 subunit gamma 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1957 Label(s): Esthesioneuroblastoma + 'Esthesioneuroblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central nervous system embryonal tumor' Class: http://www.orpha.net/ORDO/Orphanet_1956 Label(s): OBSOLETE: Erythromelalgia + 'OBSOLETE: Erythromelalgia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary erythromelalgia' Class: http://www.orpha.net/ORDO/Orphanet_1955 Label(s): Spinocerebellar ataxia type 34 + 'Spinocerebellar ataxia type 34' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Erythrokeratoderma' + 'Spinocerebellar ataxia type 34' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' + 'Spinocerebellar ataxia type 34' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic erythrokeratoderma' Class: http://www.orpha.net/ORDO/Orphanet_363741 Label(s): Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1952 Label(s): Epiphyseal stippling-osteoclastic hyperplasia syndrome + 'Epiphyseal stippling-osteoclastic hyperplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_423296 Label(s): Spinocerebellar ataxia type 38 + 'Spinocerebellar ataxia type 38' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Spinocerebellar ataxia type 38' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type III' Class: http://www.orpha.net/ORDO/Orphanet_199282 Label(s): Harlequin syndrome + 'Harlequin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic autonomic nervous system disorder' + 'Harlequin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare autonomic nervous system disorder' Class: http://www.orpha.net/ORDO/Orphanet_276413 Label(s): 10q22.3q23.3 microdeletion syndrome + '10q22.3q23.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the long arm of chromosome 10' Class: http://www.orpha.net/ORDO/Orphanet_1949 Label(s): Benign familial neonatal epilepsy + 'Benign familial neonatal epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' + 'Benign familial neonatal epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1948 Label(s): Epilepsy-microcephaly-skeletal dysplasia syndrome + 'Epilepsy-microcephaly-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Epilepsy-microcephaly-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1947 Label(s): Progressive epilepsy-intellectual disability syndrome, Finnish type + 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' + 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_1946 Label(s): Amelocerebrohypohidrotic syndrome + 'Amelocerebrohypohidrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Amelocerebrohypohidrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Amelocerebrohypohidrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Amelocerebrohypohidrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_1945 Label(s): Rolandic epilepsy + 'Rolandic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect' + 'Rolandic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1943 Label(s): Early-onset progressive encephalopathy with migrant continuous myoclonus + 'Early-onset progressive encephalopathy with migrant continuous myoclonus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1942 Label(s): Myoclonic-astatic epilepsy + 'Myoclonic-astatic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' + 'Myoclonic-astatic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1941 Label(s): Juvenile absence epilepsy + 'Juvenile absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_364198 Label(s): Bipartite talus + 'Bipartite talus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis of genetic origin with limb anomaly as a major feature' + 'Bipartite talus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic limb malformation' + 'Bipartite talus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with limb anomaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_284180 Label(s): Xp22.13p22.2 duplication syndrome + 'Xp22.13p22.2 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome X' + 'Xp22.13p22.2 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Xp22.13p22.2 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_276405 Label(s): Hyperbiliverdinemia + 'Hyperbiliverdinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hepatic disease' + 'Hyperbiliverdinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic hepatic disease' Class: http://www.orpha.net/ORDO/Orphanet_93976 Label(s): Anotia + 'Anotia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pinnae and external auditory canal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93975 Label(s): OBSOLETE: Renier-Gabreels-Jasper syndrome + 'OBSOLETE: Renier-Gabreels-Jasper syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93974 Label(s): Smith-Fineman-Myers syndrome + 'Smith-Fineman-Myers syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93972 Label(s): Juberg-Marsidi syndrome + 'Juberg-Marsidi syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93971 Label(s): Chudley-Lowry-Hoar syndrome + 'Chudley-Lowry-Hoar syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93970 Label(s): Holmes-Gang syndrome + 'Holmes-Gang syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1935 Label(s): Early myoclonic encephalopathy + 'Early myoclonic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial substrate carrier disorder' + 'Early myoclonic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84096 Label(s): OBSOLETE: Unknown leukodystrophy + 'OBSOLETE: Unknown leukodystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1933 Label(s): Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84093 Label(s): Hereditary thermosensitive neuropathy + 'Hereditary thermosensitive neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_1930 Label(s): Herpes simplex virus encephalitis + 'Herpes simplex virus encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with dementia' + 'Herpes simplex virus encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' + 'Herpes simplex virus encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic susceptibility to infections due to particular pathogens' + 'Herpes simplex virus encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_404476 Label(s): Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1937 Label(s): Eng-Strom syndrome + 'Eng-Strom syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Eng-Strom syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_3404 Label(s): Ulbright-Hodes syndrome + 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93969 Label(s): Myelomeningocele + 'Myelomeningocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_93968 Label(s): Meningocele + 'Meningocele' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Isolated spina bifida' Class: http://www.orpha.net/ORDO/Orphanet_512017 Label(s): Chronic lymphoproliferative disorder of natural killer cells + 'Chronic lymphoproliferative disorder of natural killer cells' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Large granular lymphocyte leukemia' Class: http://www.orpha.net/ORDO/Orphanet_3408 Label(s): Upington disease + 'Upington disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_93964 Label(s): Blepharospasm-oromandibular dystonia syndrome + 'Blepharospasm-oromandibular dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_93963 Label(s): OBSOLETE: Autosomal dominant focal dystonia, DYT7 type + 'OBSOLETE: Autosomal dominant focal dystonia, DYT7 type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_1929 Label(s): Rasmussen subacute encephalitis + 'Rasmussen subacute encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory and autoimmune disease with epilepsy' + 'Rasmussen subacute encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_93961 Label(s): OBSOLETE: Laryngeal dyskinesia + 'OBSOLETE: Laryngeal dyskinesia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_1927 Label(s): Emery-Nelson syndrome + 'Emery-Nelson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb malformations as a major feature' + 'Emery-Nelson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb malformations as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1926 Label(s): Diabetic embryopathy + 'Diabetic embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Diabetic embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal disease-related embryofetopathy' + 'Diabetic embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial hypertrophic cardiomyopathy' + 'Diabetic embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84087 Label(s): Collagen type III glomerulopathy + 'Collagen type III glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1920 Label(s): Toluene embryopathy + 'Toluene embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' + 'Toluene embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_84081 Label(s): Senior-Boichis syndrome + 'Senior-Boichis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Senior-Boichis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Senior-Boichis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_284169 Label(s): Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion + 'Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' + 'Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 10' Class: http://www.orpha.net/ORDO/Orphanet_284160 Label(s): 8q21.11 microdeletion syndrome + '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 8' + '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_404466 Label(s): Female infertility due to zona pellucida defect + 'Female infertility due to zona pellucida defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to oocyte maturation defect' Class: http://www.orpha.net/ORDO/Orphanet_2302 Label(s): Asbestos intoxication + 'Asbestos intoxication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pneumoconiosis' Class: http://www.orpha.net/ORDO/Orphanet_404463 Label(s): Multisystemic smooth muscle dysfunction syndrome + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic central nervous system and retinal vascular disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urogenital disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic urogenital disease' Class: http://www.orpha.net/ORDO/Orphanet_476126 Label(s): Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome + 'Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93956 Label(s): OBSOLETE: Truncal dystonia + 'OBSOLETE: Truncal dystonia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_93953 Label(s): Familial thyroglossal duct cyst + 'Familial thyroglossal duct cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital thyroid malformation without hypothyroidism' + 'Familial thyroglossal duct cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_93952 Label(s): X-linked intellectual disability, Hedera type + 'X-linked intellectual disability, Hedera type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked intellectual disability-epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93951 Label(s): OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome + 'OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked intellectual disability-epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1916 Label(s): Diethylstilbestrol syndrome + 'Diethylstilbestrol syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an implantation defect' + 'Diethylstilbestrol syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic uterovaginal malformation' + 'Diethylstilbestrol syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_1915 Label(s): Fetal alcohol syndrome + 'Fetal alcohol syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' + 'Fetal alcohol syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_1914 Label(s): Vitamin K antagonist embryofetopathy + 'Vitamin K antagonist embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' + 'Vitamin K antagonist embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1913 Label(s): Fetal trimethadione syndrome + 'Fetal trimethadione syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fetal anticonvulsant syndrome' + 'Fetal trimethadione syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1912 Label(s): Fetal hydantoin syndrome + 'Fetal hydantoin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' + 'Fetal hydantoin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fetal anticonvulsant syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1911 Label(s): Cocaine embryofetopathy + 'Cocaine embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' + 'Cocaine embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1910 Label(s): Fetal iodine syndrome + 'Fetal iodine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' + 'Fetal iodine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Transient congenital hypothyroidism due to maternal factor' + 'Fetal iodine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1201 Label(s): Atresia of small intestine + 'Atresia of small intestine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary short bowel syndrome' + 'Atresia of small intestine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_306588 Label(s): OBSOLETE: Autosomal dominant Opitz G/BBB syndrome + 'OBSOLETE: Autosomal dominant Opitz G/BBB syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Opitz GBBB syndrome' Class: http://www.orpha.net/ORDO/Orphanet_544503 Label(s): RNF13-related severe early-onset epileptic encephalopathy + 'RNF13-related severe early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'RNF13-related severe early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'RNF13-related severe early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'RNF13-related severe early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_542301 Label(s): Combined immunodeficiency due to CARMIL2 deficiency + 'Combined immunodeficiency due to CARMIL2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3421 Label(s): Cerebroretinal vasculopathy + 'Cerebroretinal vasculopathy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_476119 Label(s): Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome + 'Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' + 'Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_324442 Label(s): Autosomal recessive axonal neuropathy with neuromyotonia + 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_404451 Label(s): FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93946 Label(s): Hamel cerebro-palato-cardiac syndrome + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renpenning syndrome' Class: http://www.orpha.net/ORDO/Orphanet_476113 Label(s): Combined immunodeficiency due to TFRC deficiency + 'Combined immunodeficiency due to TFRC deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_93943 Label(s): Corpus callosum dysgenesis-hypopituitarism syndrome + 'Corpus callosum dysgenesis-hypopituitarism syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_1908 Label(s): Aminopterin/methotrexate embryofetopathy + 'Aminopterin/methotrexate embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' + 'Aminopterin/methotrexate embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1906 Label(s): Fetal valproate spectrum disorder + 'Fetal valproate spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Fetal valproate spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' + 'Fetal valproate spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fetal anticonvulsant syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84065 Label(s): Idiopathic malabsorption due to bile acid synthesis defects + 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of bile acid synthesis' + 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal disease due to fat malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_84064 Label(s): Syndromic diarrhea + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune dysregulation disease with immunodeficiency' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intractable diarrhea of infancy' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intractable diarrhea of infancy' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' Class: http://www.orpha.net/ORDO/Orphanet_1901 Label(s): Dermatosparaxis Ehlers-Danlos syndrome + 'Dermatosparaxis Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1900 Label(s): Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency + 'Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Kyphoscoliotic Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284149 Label(s): Craniosynostosis-dental anomalies + 'Craniosynostosis-dental anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Craniosynostosis-dental anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Craniosynostosis-dental anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_1209 Label(s): Tricuspid atresia + 'Tricuspid atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_168829 Label(s): Primary peritoneal carcinoma + 'Primary peritoneal carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary malignant peritoneal tumor' Class: http://www.orpha.net/ORDO/Orphanet_542310 Label(s): Leukoencephalopathy with calcifications and cysts + 'Leukoencephalopathy with calcifications and cysts' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebral small vessel disease' Class: http://www.orpha.net/ORDO/Orphanet_404448 Label(s): ADNP syndrome + 'ADNP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'ADNP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3434 Label(s): MMEP syndrome + 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_404443 Label(s): Tatton-Brown-Rahman syndrome + 'Tatton-Brown-Rahman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Tatton-Brown-Rahman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Tatton-Brown-Rahman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93938 Label(s): Laryngotracheoesophageal cleft type 1 + 'Laryngotracheoesophageal cleft type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laryngotracheoesophageal cleft' Class: http://www.orpha.net/ORDO/Orphanet_3437 Label(s): Vogt-Koyanagi-Harada disease + 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Panuveitis' + 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuroinflammatory or neuroimmunological disease' + 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_404440 Label(s): Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_476102 Label(s): Hereditary pediatric Behçet-like disease + 'Hereditary pediatric Behçet-like disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome' + 'Hereditary pediatric Behçet-like disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' + 'Hereditary pediatric Behçet-like disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome of childhood' Class: http://www.orpha.net/ORDO/Orphanet_93932 Label(s): FG syndrome type 1 + 'FG syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'FG syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'FG syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'FG syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_93930 Label(s): Bladder exstrophy + 'Bladder exstrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Exstrophy-epispadias complex' Class: http://www.orpha.net/ORDO/Orphanet_477661 Label(s): IL21-related infantile inflammatory bowel disease + 'IL21-related infantile inflammatory bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' + 'IL21-related infantile inflammatory bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' + 'IL21-related infantile inflammatory bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_363611 Label(s): CTCF-related neurodevelopmental disorder + 'CTCF-related neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CTCF-related neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1951 Label(s): Epilepsy-telangiectasia syndrome + 'Epilepsy-telangiectasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' + 'Epilepsy-telangiectasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Epilepsy-telangiectasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_284139 Label(s): Larsen-like syndrome, B3GAT3 type + 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' + 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosylglycan synthesis' + 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_435628 Label(s): Keppen-Lubinsky syndrome + 'Keppen-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Keppen-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' + 'Keppen-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lipodystrophy' + 'Keppen-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1954 Label(s): Congenital lethal erythroderma + 'Congenital lethal erythroderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified genetic skin disorder' Class: http://www.orpha.net/ORDO/Orphanet_171886 Label(s): Cylindrical spirals myopathy + 'Cylindrical spirals myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_168816 Label(s): Peritoneal cystic mesothelioma + 'Peritoneal cystic mesothelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary malignant peritoneal tumor' Class: http://www.orpha.net/ORDO/Orphanet_3440 Label(s): Waardenburg syndrome + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hypopigmentation of the skin' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypopigmentation of the skin' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_542323 Label(s): CAR T cell therapy-associated cytokine release syndrome + 'CAR T cell therapy-associated cytokine release syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_324422 Label(s): ALG13-CDG + 'ALG13-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'ALG13-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'ALG13-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' + 'ALG13-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93929 Label(s): Cloacal exstrophy + 'Cloacal exstrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Cloacal exstrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Exstrophy-epispadias complex' Class: http://www.orpha.net/ORDO/Orphanet_93928 Label(s): Isolated epispadias + 'Isolated epispadias' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Exstrophy-epispadias complex' Class: http://www.orpha.net/ORDO/Orphanet_93926 Label(s): Midline interhemispheric variant of holoprosencephaly + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_93925 Label(s): Alobar holoprosencephaly + 'Alobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_93924 Label(s): Lobar holoprosencephaly + 'Lobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_1247 Label(s): Schistosomiasis + 'Schistosomiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_93921 Label(s): Schwannomatosis + 'Schwannomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Schwannomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Schwannomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Schwannomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some http://www.orpha.net/ORDO/Orphanet_634518 + 'Schwannomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_419 Label(s): Hyperprolinemia type 1 + 'Hyperprolinemia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Hyperprolinemia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' + 'Hyperprolinemia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of proline metabolism' Class: http://www.orpha.net/ORDO/Orphanet_363623 Label(s): GMPPB-related limb-girdle muscular dystrophy R19 + 'GMPPB-related limb-girdle muscular dystrophy R19' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'GMPPB-related limb-girdle muscular dystrophy R19' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'GMPPB-related limb-girdle muscular dystrophy R19' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'GMPPB-related limb-girdle muscular dystrophy R19' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_252183 Label(s): Neurofibroma + 'Neurofibroma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign peripheral nerve sheath tumor' Class: http://www.orpha.net/ORDO/Orphanet_48736 Label(s): Embryonal carcinoma of the central nervous system + 'Embryonal carcinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary germ cell tumor of central nervous system' + 'Embryonal carcinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Embryonal carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_137602 Label(s): Corneal endotheliitis + 'Corneal endotheliitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infective keratitis' Class: http://www.orpha.net/ORDO/Orphanet_3455 Label(s): Wiedemann-Rautenstrauch syndrome + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lipodystrophy' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1253 Label(s): Ascher syndrome + 'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eyelid malposition disorder' + 'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic eyelid malposition disorder' + 'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' Class: http://www.orpha.net/ORDO/Orphanet_99045 Label(s): Double outlet right ventricle with subpulmonary ventricular septal defect + 'Double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Double outlet right ventricle' Class: http://www.orpha.net/ORDO/Orphanet_488437 Label(s): SIX2-related frontonasal dysplasia + 'SIX2-related frontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1258 Label(s): OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome + 'OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1259 Label(s): Blepharoptosis-myopia-ectopia lentis syndrome + 'Blepharoptosis-myopia-ectopia lentis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Blepharoptosis-myopia-ectopia lentis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Blepharoptosis-myopia-ectopia lentis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' Class: http://www.orpha.net/ORDO/Orphanet_429 Label(s): Hypochondroplasia + 'Hypochondroplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'FGFR3-related chondrodysplasia' + 'Hypochondroplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with micromelia' Class: http://www.orpha.net/ORDO/Orphanet_252175 Label(s): Vestibular schwannoma + 'Vestibular schwannoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign schwannoma' + 'Vestibular schwannoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_1962 Label(s): Exostoses-anetodermia-brachydactyly type E syndrome + 'Exostoses-anetodermia-brachydactyly type E syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_216866 Label(s): Classic pantothenate kinase-associated neurodegeneration + 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pantothenate kinase-associated neurodegeneration' Class: http://www.orpha.net/ORDO/Orphanet_284113 Label(s): OBSOLETE: Prediction of susceptibility to adverse reaction due to mercaptopurine + 'OBSOLETE: Prediction of susceptibility to adverse reaction due to mercaptopurine' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_123271 Label(s): lysine methyltransferase 2A - 'lysine methyltransferase 2A' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'lysine methyltransferase 2A' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)' Class: http://www.orpha.net/ORDO/Orphanet_488265 Label(s): Osteofibrous dysplasia + 'Osteofibrous dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2319 Label(s): Juberg-Hayward syndrome + 'Juberg-Hayward syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Juberg-Hayward syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Juberg-Hayward syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_254379 Label(s): Linear lichen planus + 'Linear lichen planus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_3463 Label(s): Wolfram syndrome + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare diabetes mellitus type 1' + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_3464 Label(s): Woodhouse-Sakati syndrome + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegeneration with brain iron accumulation' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with dystonia and other neurologic or systemic manifestation' Class: http://www.orpha.net/ORDO/Orphanet_3465 Label(s): Worster-Drought syndrome + 'Worster-Drought syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_3466 Label(s): WT limb-blood syndrome + 'WT limb-blood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' + 'WT limb-blood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_3469 Label(s): XK aprosencephaly syndrome + 'XK aprosencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_495930 Label(s): Familial monosomy 7 syndrome + 'Familial monosomy 7 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_436 Label(s): Hypophosphatasia + 'Hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental anomaly of metabolic origin' + 'Hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with defective bone mineralization' Class: http://www.orpha.net/ORDO/Orphanet_566067 Label(s): CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome + 'CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary periodic fever syndrome' + 'CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' Class: http://www.orpha.net/ORDO/Orphanet_412189 Label(s): Epidermolysis bullosa simplex due to exophilin 5 deficiency + 'Epidermolysis bullosa simplex due to exophilin 5 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex without extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_252164 Label(s): Benign schwannoma + 'Benign schwannoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign peripheral nerve sheath tumor' Class: http://www.orpha.net/ORDO/Orphanet_1521 Label(s): Craniofrontonasal dysplasia-Poland anomaly syndrome + 'Craniofrontonasal dysplasia-Poland anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' + 'Craniofrontonasal dysplasia-Poland anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic breast hypoplasia/aplasia' Class: http://www.orpha.net/ORDO/Orphanet_412181 Label(s): Epidermolysis bullosa simplex due to BP230 deficiency + 'Epidermolysis bullosa simplex due to BP230 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex without extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_3473 Label(s): Zimmermann-Laband syndrome + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3474 Label(s): CHIME syndrome + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with deafness as a major feature' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1270 Label(s): Bowen-Conradi syndrome + 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1271 Label(s): Bowen syndrome + 'Bowen syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Zellweger syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99055 Label(s): Congenital anomaly of the tricuspid valve chordae + 'Congenital anomaly of the tricuspid valve chordae' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomaly of the tricuspid subvalvular apparatus' Class: http://www.orpha.net/ORDO/Orphanet_444 Label(s): Marie Unna hereditary hypotrichosis + 'Marie Unna hereditary hypotrichosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Marie Unna hereditary hypotrichosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_99056 Label(s): Parachute tricuspid valve + 'Parachute tricuspid valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomaly of the tricuspid subvalvular apparatus' Class: http://www.orpha.net/ORDO/Orphanet_1277 Label(s): Brachydactyly-mesomelia-intellectual disability-heart defects syndrome + 'Brachydactyly-mesomelia-intellectual disability-heart defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brachydactyly-mesomelia-intellectual disability-heart defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_306558 Label(s): Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_217563 Label(s): Neonatal acute respiratory distress due to SP-B deficiency + 'Neonatal acute respiratory distress due to SP-B deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' Class: http://www.orpha.net/ORDO/Orphanet_363654 Label(s): X-linked parkinsonism-spasticity syndrome + 'X-linked parkinsonism-spasticity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'X-linked parkinsonism-spasticity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_363659 Label(s): 20q11.2 microduplication syndrome + '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy of the long arm of chromosome 20' + '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_54272 Label(s): Hepatocellular adenoma + 'Hepatocellular adenoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_254351 Label(s): Distal 7q11.23 microdeletion syndrome + 'Distal 7q11.23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_96195 Label(s): Paternal uniparental disomy of chromosome 21 + 'Paternal uniparental disomy of chromosome 21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_96194 Label(s): Paternal uniparental disomy of chromosome 20 + 'Paternal uniparental disomy of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_96193 Label(s): Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 + 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_2909 Label(s): Rothmund-Thomson syndrome + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dentocutaneous disease with cataract' + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic photodermatosis' + 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary poikiloderma' Class: http://www.orpha.net/ORDO/Orphanet_96191 Label(s): Paternal uniparental disomy of chromosome 6 + 'Paternal uniparental disomy of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_96190 Label(s): Paternal uniparental disomy of chromosome 5 + 'Paternal uniparental disomy of chromosome 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_31827 Label(s): Paraquat poisoning + 'Paraquat poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_456298 Label(s): 1p35.2 microdeletion syndrome + '1p35.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '1p35.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + '1p35.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + '1p35.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 1' + '1p35.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_488232 Label(s): Split-foot malformation-mesoaxial polydactyly syndrome + 'Split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' + 'Split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_254346 Label(s): 19p13.12 microdeletion syndrome + '19p13.12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 19' Class: http://www.orpha.net/ORDO/Orphanet_96188 Label(s): Maternal uniparental disomy of chromosome 22 + 'Maternal uniparental disomy of chromosome 22' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_96187 Label(s): Maternal uniparental disomy of chromosome 21 + 'Maternal uniparental disomy of chromosome 21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_52056 Label(s): Ulnar/fibula ray defect-brachydactyly syndrome + 'Ulnar/fibula ray defect-brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_96185 Label(s): Maternal uniparental disomy of chromosome 16 + 'Maternal uniparental disomy of chromosome 16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Maternal uniparental disomy of chromosome 16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_96184 Label(s): Temple syndrome due to maternal uniparental disomy of chromosome 14 + 'Temple syndrome due to maternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' + 'Temple syndrome due to maternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Temple syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96182 Label(s): Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_96181 Label(s): Maternal uniparental disomy of chromosome 6 + 'Maternal uniparental disomy of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_96180 Label(s): Maternal uniparental disomy of chromosome 4 + 'Maternal uniparental disomy of chromosome 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_99069 Label(s): OBSOLETE: Univentricular heart with single atrio-ventricular valve + 'OBSOLETE: Univentricular heart with single atrio-ventricular valve' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Univentricular heart' Class: http://www.orpha.net/ORDO/Orphanet_308638 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glycogen branching enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_216820 Label(s): Osteogenesis imperfecta type 4 + 'Osteogenesis imperfecta type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Osteogenesis imperfecta type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with dentinogenesis imperfecta' + 'Osteogenesis imperfecta type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_54251 Label(s): Corticosteroid-sensitive aseptic abscess syndrome + 'Corticosteroid-sensitive aseptic abscess syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_470 Label(s): Lysinuric protein intolerance + 'Lysinuric protein intolerance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of amino acid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_96179 Label(s): Maternal uniparental disomy of chromosome 2 + 'Maternal uniparental disomy of chromosome 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_306566 Label(s): OBSOLETE: Susceptibility to myopathies due to statin treatment + 'OBSOLETE: Susceptibility to myopathies due to statin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_96177 Label(s): Ring chromosome 15 syndrome + 'Ring chromosome 15 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_96176 Label(s): Ring chromosome 13 syndrome + 'Ring chromosome 13 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Ring chromosome 13 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_96175 Label(s): Ring chromosome 11 syndrome + 'Ring chromosome 11 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_96173 Label(s): Ring chromosome 9 syndrome + 'Ring chromosome 9 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_96172 Label(s): Ring chromosome 3 syndrome + 'Ring chromosome 3 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_96171 Label(s): Ring chromosome 2 syndrome + 'Ring chromosome 2 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_96170 Label(s): Emanuel syndrome + 'Emanuel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex chromosomal rearrangement' + 'Emanuel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Emanuel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_252128 Label(s): Malignant peripheral nerve sheath tumor with perineurial differentiation + 'Malignant peripheral nerve sheath tumor with perineurial differentiation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant peripheral nerve sheath tumor' Class: http://www.orpha.net/ORDO/Orphanet_121131 Label(s): DM1 protein kinase + 'DM1 protein kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile-onset Steinert myotonic dystrophy' + 'DM1 protein kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult-onset Steinert myotonic dystrophy' + 'DM1 protein kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'Late-onset Steinert myotonic dystrophy' + 'DM1 protein kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'Childhood-onset Steinert myotonic dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_54247 Label(s): Posterior cortical atrophy + 'Posterior cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Posterior cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare dementia' + 'Posterior cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_294049 Label(s): Reunion Island Larsen-like syndrome + 'Reunion Island Larsen-like syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_480 Label(s): Kearns-Sayre syndrome + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with dilated cardiomyopathy' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with peripheral neuropathy' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with hypoparathyroidism' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' + 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_96169 Label(s): Koolen-De Vries syndrome + 'Koolen-De Vries syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Koolen-De Vries syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Koolen-De Vries syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_96168 Label(s): Monosomy 13q34 + 'Monosomy 13q34' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Monosomy 13q34' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 13' Class: http://www.orpha.net/ORDO/Orphanet_96167 Label(s): Recombinant 8 syndrome + 'Recombinant 8 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex chromosomal rearrangement' Class: http://www.orpha.net/ORDO/Orphanet_621758 Label(s): Fibrosis-neurodegeneration-cerebral angiomatosis syndrome + 'Fibrosis-neurodegeneration-cerebral angiomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Interstitial lung disease specific to infancy' + 'Fibrosis-neurodegeneration-cerebral angiomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Fibrosis-neurodegeneration-cerebral angiomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic interstitial lung disease' + 'Fibrosis-neurodegeneration-cerebral angiomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebral small vessel disease' + 'Fibrosis-neurodegeneration-cerebral angiomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_399808 Label(s): Male infertility with teratozoospermia due to single gene mutation + 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility with spermatogenesis disorder due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_254424 Label(s): Annular lichen planus + 'Annular lichen planus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_363694 Label(s): Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with pulmonary hypertension as a major feature' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_279943 Label(s): Hereditary neutrophilia + 'Hereditary neutrophilia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic immune disease' + 'Hereditary neutrophilia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare immune disease' Class: http://www.orpha.net/ORDO/Orphanet_410045 Label(s): Costa rica - 'Costa rica' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_490 Label(s): Omphalomesenteric cyst + 'Omphalomesenteric cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_495 Label(s): Transgrediens et progrediens palmoplantar keratoderma + 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_585867 Label(s): Acute myeloid leukemia with t(9;22)(q34.1;q11.2) + 'Acute myeloid leukemia with t(9;22)(q34.1;q11.2)' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_96152 Label(s): OBSOLETE: Distal monosomy 20q + 'OBSOLETE: Distal monosomy 20q' SubClassOf http://www.orpha.net/ORDO/referred_to some '20q13.33 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_499 Label(s): Kerion celsi + 'Kerion celsi' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_96150 Label(s): Distal monosomy 14q + 'Distal monosomy 14q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_182076 Label(s): OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability + 'OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_182073 Label(s): OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability + 'OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_100932 Label(s): OBSOLETE: Nuclear oculomotor paralysis + 'OBSOLETE: Nuclear oculomotor paralysis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare ophthalmic disorder with cranial nerve involvement' Class: http://www.orpha.net/ORDO/Orphanet_99081 Label(s): Right aortic arch + 'Right aortic arch' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_294026 Label(s): Syndactyly-nystagmus syndrome due to 2q31.1 microduplication + 'Syndactyly-nystagmus syndrome due to 2q31.1 microduplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 2' Class: http://www.orpha.net/ORDO/Orphanet_2332 Label(s): KBG syndrome + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_294023 Label(s): Neonatal inflammatory skin and bowel disease + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome of childhood' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_163898 Label(s): OBSOLETE: Classic paraneoplastic limbic encephalitis + 'OBSOLETE: Classic paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_96149 Label(s): Distal monosomy 12q + 'Distal monosomy 12q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 12' Class: http://www.orpha.net/ORDO/Orphanet_96148 Label(s): Distal monosomy 10q + 'Distal monosomy 10q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the long arm of chromosome 10' Class: http://www.orpha.net/ORDO/Orphanet_96147 Label(s): Kleefstra syndrome due to 9q34 microdeletion + 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Kleefstra syndrome' + 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the long arm of chromosome 9' + 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_96145 Label(s): Distal monosomy 4q + 'Distal monosomy 4q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 4' Class: http://www.orpha.net/ORDO/Orphanet_2334 Label(s): Autosomal dominant keratitis + 'Autosomal dominant keratitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory/autoimmune corneal disorder' + 'Autosomal dominant keratitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic inflammatory/autoimmune corneal disorder' Class: http://www.orpha.net/ORDO/Orphanet_56425 Label(s): Cold agglutinin disease + 'Cold agglutinin disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune hemolytic anemia, cold type' Class: http://www.orpha.net/ORDO/Orphanet_94125 Label(s): Recessive mitochondrial ataxia syndrome + 'Recessive mitochondrial ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ataxia neuropathy spectrum' + 'Recessive mitochondrial ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive metabolic cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_306474 Label(s): OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance + 'OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_530298 Label(s): Progressive myoclonic epilepsy with neuroserpin inclusion bodies + 'Progressive myoclonic epilepsy with neuroserpin inclusion bodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial encephalopathy with neuroserpin inclusion bodies' Class: http://www.orpha.net/ORDO/Orphanet_98342 Label(s): OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury + 'OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98341 Label(s): OBSOLETE: Male infertility with normal virilization due to a systemic disease + 'OBSOLETE: Male infertility with normal virilization due to a systemic disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_294016 Label(s): Microcephaly-capillary malformation syndrome + 'Microcephaly-capillary malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare capillary malformation with associated anomalies' + 'Microcephaly-capillary malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_306776 Label(s): Sporadic hyperekplexia + 'Sporadic hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperekplexia' Class: http://www.orpha.net/ORDO/Orphanet_1564 Label(s): Dandy-Walker malformation-facial hemangioma syndrome + 'Dandy-Walker malformation-facial hemangioma syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'PHACE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_391677 Label(s): Short stature-optic atrophy-Pelger-Huët anomaly syndrome + 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_79211 Label(s): OBSOLETE: Combined hyperlipidemia + 'OBSOLETE: Combined hyperlipidemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hyperlipidemia' Class: http://www.orpha.net/ORDO/Orphanet_391673 Label(s): Necrotizing enterocolitis + 'Necrotizing enterocolitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_98339 Label(s): OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin + 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98335 Label(s): OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect + 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98334 Label(s): OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele + 'OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Male infertility due to gonadal dysgenesis or sperm disorder' Class: http://www.orpha.net/ORDO/Orphanet_98333 Label(s): OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism + 'OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Male infertility due to gonadal dysgenesis or sperm disorder' Class: http://www.orpha.net/ORDO/Orphanet_98332 Label(s): OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect + 'OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Male infertility due to gonadal dysgenesis or sperm disorder' Class: http://www.orpha.net/ORDO/Orphanet_98331 Label(s): OBSOLETE: Male infertility with normal virilization due to a testicular defect + 'OBSOLETE: Male infertility with normal virilization due to a testicular defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility due to testicular endocrine disorder' Class: http://www.orpha.net/ORDO/Orphanet_98330 Label(s): OBSOLETE: Male infertility with normal virilization due to androgen administration + 'OBSOLETE: Male infertility with normal virilization due to androgen administration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility due to testicular endocrine disorder' Class: http://www.orpha.net/ORDO/Orphanet_99092 Label(s): Interventricular septum aneurysm + 'Interventricular septum aneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare congenital anomaly of ventricular septum' Class: http://www.orpha.net/ORDO/Orphanet_96129 Label(s): Distal monosomy 19p13.3 + 'Distal monosomy 19p13.3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 19' Class: http://www.orpha.net/ORDO/Orphanet_99095 Label(s): Congenital Gerbode defect + 'Congenital Gerbode defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare congenital non-syndromic heart malformation' Class: http://www.orpha.net/ORDO/Orphanet_96125 Label(s): Distal monosomy 6p + 'Distal monosomy 6p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 6' + 'Distal monosomy 6p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' + 'Distal monosomy 6p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Distal monosomy 6p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Distal monosomy 6p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99818 Label(s): Turcot syndrome with polyposis + 'Turcot syndrome with polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' + 'Turcot syndrome with polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_96121 Label(s): 7q11.23 microduplication syndrome + '7q11.23 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_391665 Label(s): Homozygous familial hypercholesterolemia + 'Homozygous familial hypercholesterolemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypercholesterolemia' Class: http://www.orpha.net/ORDO/Orphanet_88628 Label(s): Posterior column ataxia-retinitis pigmentosa syndrome + 'Posterior column ataxia-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Posterior column ataxia-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98329 Label(s): OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect + 'OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' Class: http://www.orpha.net/ORDO/Orphanet_98328 Label(s): OBSOLETE: Male infertility with normal virilization + 'OBSOLETE: Male infertility with normal virilization' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98325 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98324 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98321 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98320 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_1150 Label(s): Arthrogryposis multiplex congenita-whistling face syndrome + 'Arthrogryposis multiplex congenita-whistling face syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis multiplex congenita-whistling face syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' Class: http://www.orpha.net/ORDO/Orphanet_140933 Label(s): Linear atrophoderma of Moulin + 'Linear atrophoderma of Moulin' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' + 'Linear atrophoderma of Moulin' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_98558 Label(s): OBSOLETE: Rare eye disease due to a differentiation anomaly + 'OBSOLETE: Rare eye disease due to a differentiation anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_98559 Label(s): OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease + 'OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the ocular adnexa' Class: http://www.orpha.net/ORDO/Orphanet_94150 Label(s): Anonychia congenita totalis + 'Anonychia congenita totalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated congenital anonychia' Class: http://www.orpha.net/ORDO/Orphanet_391658 Label(s): OBSOLETE: Cowpox infection + 'OBSOLETE: Cowpox infection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Human infection by orthopoxvirus' Class: http://www.orpha.net/ORDO/Orphanet_391655 Label(s): Off-periods in Parkinson disease not responding to oral treatment + 'Off-periods in Parkinson disease not responding to oral treatment' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian disorder' Class: http://www.orpha.net/ORDO/Orphanet_88635 Label(s): Vacuolar myopathy with sarcoplasmic reticulum protein aggregates + 'Vacuolar myopathy with sarcoplasmic reticulum protein aggregates' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein SERCA1' + 'Vacuolar myopathy with sarcoplasmic reticulum protein aggregates' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_391651 Label(s): Glomus tumor + 'Glomus tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_88637 Label(s): Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome + 'Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '4H leukodystrophy' + 'Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_98319 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98317 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98316 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98315 Label(s): OBSOLETE: Male infertility with impaired virilization due to a viral orchitis + 'OBSOLETE: Male infertility with impaired virilization due to a viral orchitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98314 Label(s): OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect + 'OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_306516 Label(s): Primary hypomagnesemia with hypercalciuria and nephrocalcinosis + 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of magnesium transport' Class: http://www.orpha.net/ORDO/Orphanet_583612 Label(s): Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency + 'Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neu-Laxova syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98311 Label(s): OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia + 'OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prolactinoma' Class: http://www.orpha.net/ORDO/Orphanet_98310 Label(s): OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder + 'OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' Class: http://www.orpha.net/ORDO/Orphanet_140941 Label(s): Short stature due to primary acid-labile subunit deficiency + 'Short stature due to primary acid-labile subunit deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Growth hormone insensitivity syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306741 Label(s): Hemidystonia-hemiatrophy syndrome + 'Hemidystonia-hemiatrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare dystonia' Class: http://www.orpha.net/ORDO/Orphanet_96102 Label(s): Distal trisomy 10q + 'Distal trisomy 10q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 10' + 'Distal trisomy 10q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_96101 Label(s): Distal trisomy 9q + 'Distal trisomy 9q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy of the long arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_391646 Label(s): Feingold syndrome type 2 + 'Feingold syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Feingold syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98629 Label(s): OBSOLETE: Rare glaucoma + 'OBSOLETE: Rare glaucoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pediatric-onset glaucoma of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_391641 Label(s): Feingold syndrome type 1 + 'Feingold syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Feingold syndrome' Class: http://www.orpha.net/ORDO/Orphanet_583607 Label(s): Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency + 'Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neu-Laxova syndrome' Class: http://www.orpha.net/ORDO/Orphanet_583602 Label(s): Neu-laxova syndrome due to phosphoserine aminotransferase deficiency + 'Neu-laxova syndrome due to phosphoserine aminotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neu-Laxova syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306734 Label(s): Primary dystonia, DYT21 type + 'Primary dystonia, DYT21 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Generalized isolated dystonia' Class: http://www.orpha.net/ORDO/Orphanet_306731 Label(s): Sydenham chorea + 'Sydenham chorea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Postinfectious autoimmune disease with chorea' Class: http://www.orpha.net/ORDO/Orphanet_98579 Label(s): OBSOLETE: Congenital upper palpebral retraction + 'OBSOLETE: Congenital upper palpebral retraction' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare palpebral disorder' Class: http://www.orpha.net/ORDO/Orphanet_1159 Label(s): Progressive pseudorheumatoid arthropathy of childhood + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic inflammatory or rheumatoid-like osteoarthropathy' + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1228 Label(s): Banki syndrome + 'Banki syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_254492 Label(s): Frontal fibrosing alopecia + 'Frontal fibrosing alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Frontal fibrosing alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_79239 Label(s): Classic galactosemia + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Galactosemia' + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function' + 'Classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_99826 Label(s): Marburg hemorrhagic fever + 'Marburg hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_294994 Label(s): OBSOLETE: Split foot + 'OBSOLETE: Split foot' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_140963 Label(s): Bilateral microtia-deafness-cleft palate syndrome + 'Bilateral microtia-deafness-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Bilateral microtia-deafness-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_1970 Label(s): Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome + 'Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a Dandy-Walker malformation as a major feature' + 'Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a Dandy-Walker malformation as a major feature' + 'Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98591 Label(s): OBSOLETE: Mesenchymatous palpebral tumor + 'OBSOLETE: Mesenchymatous palpebral tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_98592 Label(s): OBSOLETE: Palpebral tumor with a vascular malformation + 'OBSOLETE: Palpebral tumor with a vascular malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_240881 Label(s): OBSOLETE: Glipizide toxicity + 'OBSOLETE: Glipizide toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_140976 Label(s): RHYNS syndrome + 'RHYNS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'RHYNS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'RHYNS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'RHYNS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' Class: http://www.orpha.net/ORDO/Orphanet_295207 Label(s): OBSOLETE: Humero-radio-ulnar synostosis, bilateral + 'OBSOLETE: Humero-radio-ulnar synostosis, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humero-radio-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_306530 Label(s): Congenital hereditary facial paralysis-variable hearing loss syndrome + 'Congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paralytic facial malformation' + 'Congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial nerve and nuclear aplasia' Class: http://www.orpha.net/ORDO/Orphanet_331187 Label(s): Immunodeficiency due to MASP-2 deficiency + 'Immunodeficiency due to MASP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to a complement cascade component deficiency' Class: http://www.orpha.net/ORDO/Orphanet_139018 Label(s): OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones + 'OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare bone development disorder' Class: http://www.orpha.net/ORDO/Orphanet_314485 Label(s): Young adult-onset distal hereditary motor neuropathy + 'Young adult-onset distal hereditary motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_139015 Label(s): OBSOLETE: Chondrodysplastic malformation syndrome + 'OBSOLETE: Chondrodysplastic malformation syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare bone development disorder' Class: http://www.orpha.net/ORDO/Orphanet_95713 Label(s): Athyreosis + 'Athyreosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hypothyroidism due to developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_276399 Label(s): Familial multinodular goiter + 'Familial multinodular goiter' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic thyroid disease' + 'Familial multinodular goiter' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Familial multinodular goiter' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thyroid disease' Class: http://www.orpha.net/ORDO/Orphanet_199302 Label(s): Isolated cleft lip + 'Isolated cleft lip' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleft lip with or without cleft palate' Class: http://www.orpha.net/ORDO/Orphanet_306539 Label(s): OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary + 'OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary poikiloderma' Class: http://www.orpha.net/ORDO/Orphanet_268865 Label(s): Neurenteric cyst + 'Neurenteric cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_66631 Label(s): CEDNIK syndrome + 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with fatal disease course' + 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101108 Label(s): Spinocerebellar ataxia type 23 + 'Spinocerebellar ataxia type 23' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_314478 Label(s): Ovarian fibrothecoma + 'Ovarian fibrothecoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare benign ovarian tumor' Class: http://www.orpha.net/ORDO/Orphanet_1251 Label(s): Blepharofacioskeletal syndrome + 'Blepharofacioskeletal syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Schilbach-Rott syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139006 Label(s): OBSOLETE: Sequence or association + 'OBSOLETE: Sequence or association' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_314473 Label(s): Ovarian fibroma + 'Ovarian fibroma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare benign ovarian tumor' Class: http://www.orpha.net/ORDO/Orphanet_95429 Label(s): Angioma serpiginosum + 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare capillary malformation' Class: http://www.orpha.net/ORDO/Orphanet_60039 Label(s): Pudendal neuralgia + 'Pudendal neuralgia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_199318 Label(s): 15q13.3 microdeletion syndrome + '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' + '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 15' + '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' + '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_314466 Label(s): Atypical Meigs syndrome + 'Atypical Meigs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare benign ovarian tumor' Class: http://www.orpha.net/ORDO/Orphanet_79258 Label(s): Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glucose-6-phosphatase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79259 Label(s): Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glucose-6-phosphatase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_268882 Label(s): Arnold-Chiari malformation type I + 'Arnold-Chiari malformation type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_314459 Label(s): Pseudo-Meigs syndrome + 'Pseudo-Meigs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare benign ovarian tumor' Class: http://www.orpha.net/ORDO/Orphanet_314451 Label(s): Meigs syndrome + 'Meigs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare benign ovarian tumor' Class: http://www.orpha.net/ORDO/Orphanet_597939 Label(s): Euthyroid dysprealbuminemic hyperthyroxinemia + 'Euthyroid dysprealbuminemic hyperthyroxinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome of reduced sensitivity to thyroid hormone' Class: http://www.orpha.net/ORDO/Orphanet_199332 Label(s): Endocrine-cerebro-osteodysplasia syndrome + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with limb and face anomalies as a major feature' + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic chronic primary adrenal insufficiency' + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_410085 Label(s): Guyana - 'Guyana' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_232232 Label(s): myocyte enhancer factor 2C + 'myocyte enhancer factor 2C' SubClassOf 'major susceptibility factor in' some 'Complete atrioventricular septal defect without ventricular hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_1231 Label(s): Barber-Say syndrome + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary ectropion' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1899 Label(s): Arthrochalasia Ehlers-Danlos syndrome + 'Arthrochalasia Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1896 Label(s): EEC syndrome + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with corneal involvement as a major feature' + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with corneal involvement as a major feature' + 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'EEC syndrome and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_1895 Label(s): Edinburgh malformation syndrome + 'Edinburgh malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Edinburgh malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1892 Label(s): Ectrodactyly-polydactyly syndrome + 'Ectrodactyly-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Ectrodactyly-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' Class: http://www.orpha.net/ORDO/Orphanet_434179 Label(s): Orofaciodigital syndrome type 14 + 'Orofaciodigital syndrome type 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Orofaciodigital syndrome type 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_79264 Label(s): Juvenile neuronal ceroid lipofuscinosis + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuronal ceroid lipofuscinosis' + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral lipidosis with dementia' + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_439881 Label(s): Plastic bronchitis + 'Plastic bronchitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_1234 Label(s): Bartsocas-Papas syndrome + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Popliteal pterygium syndrome' + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic eyelid coloboma' + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_199340 Label(s): Muscular dystrophy, Selcen type + 'Muscular dystrophy, Selcen type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_199348 Label(s): Thiamine-responsive encephalopathy + 'Thiamine-responsive encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of thiamine metabolism and transport' + 'Thiamine-responsive encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1889 Label(s): Ectrodactyly-cleft palate syndrome + 'Ectrodactyly-cleft palate syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'EEC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1888 Label(s): Ectrodactyly-ectodermal dysplasia without clefting syndrome + 'Ectrodactyly-ectodermal dysplasia without clefting syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'EEC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1885 Label(s): Isolated ectopia lentis + 'Isolated ectopia lentis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lens position anomaly of genetic origin' + 'Isolated ectopia lentis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome and Marfan-related disorders' + 'Isolated ectopia lentis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lens position anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1884 Label(s): Ectopia lentis-chorioretinal dystrophy-myopia syndrome + 'Ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated chorioretinal dystrophy' + 'Ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_1883 Label(s): Ectodermal dysplasia-sensorineural deafness syndrome + 'Ectodermal dysplasia-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Ectodermal dysplasia-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_189424 Label(s): OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia + 'OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'ACTH-independent Cushing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1880 Label(s): Ebstein malformation of the tricuspid valve + 'Ebstein malformation of the tricuspid valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac malformation' + 'Ebstein malformation of the tricuspid valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_189427 Label(s): Cushing syndrome due to macronodular adrenal hyperplasia + 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cushing syndrome' + 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to adrenal disorder' + 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic adrenal disease' Class: http://www.orpha.net/ORDO/Orphanet_314432 Label(s): Spigelian hernia-cryptorchidism syndrome + 'Spigelian hernia-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_199351 Label(s): Adult-onset dystonia-parkinsonism + 'Adult-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Adult-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Adult-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PLA2G6-associated neurodegeneration' + 'Adult-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' Class: http://www.orpha.net/ORDO/Orphanet_1225 Label(s): Baller-Gerold syndrome + 'Baller-Gerold syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Baller-Gerold syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_476084 Label(s): BVES-related limb-girdle muscular dystrophy + 'BVES-related limb-girdle muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'BVES-related limb-girdle muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_404553 Label(s): Vasculitis due to ADA2 deficiency + 'Vasculitis due to ADA2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'Vasculitis due to ADA2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular disease' + 'Vasculitis due to ADA2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune dysregulation disease with immunodeficiency' + 'Vasculitis due to ADA2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric vasculitis' + 'Vasculitis due to ADA2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly medium-vessel vasculitis' + 'Vasculitis due to ADA2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' Class: http://www.orpha.net/ORDO/Orphanet_2969 Label(s): Proteus-like syndrome + 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PTEN hamartoma tumor syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1876 Label(s): Oculogastrointestinal muscular dystrophy + 'Oculogastrointestinal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' + 'Oculogastrointestinal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' + 'Oculogastrointestinal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Oculogastrointestinal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' Class: http://www.orpha.net/ORDO/Orphanet_1875 Label(s): Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome + 'Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_1873 Label(s): Jalili syndrome + 'Jalili syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Jalili syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Jalili syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_1872 Label(s): Cone rod dystrophy + 'Cone rod dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in the RPGR gene' + 'Cone rod dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' + 'Cone rod dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in the RPGRIP gene' Class: http://www.orpha.net/ORDO/Orphanet_1871 Label(s): Progressive cone dystrophy + 'Progressive cone dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' + 'Progressive cone dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in the RPGR gene' Class: http://www.orpha.net/ORDO/Orphanet_36913 Label(s): Autoimmune hypoparathyroidism + 'Autoimmune hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_314422 Label(s): Ameloblastic carcinoma + 'Ameloblastic carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontogenic tumor' Class: http://www.orpha.net/ORDO/Orphanet_83600 Label(s): Encephalitis lethargica + 'Encephalitis lethargica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Encephalitis lethargica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic encephalitis' + 'Encephalitis lethargica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_168796 Label(s): Heart-hand syndrome, Slovenian type + 'Heart-hand syndrome, Slovenian type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with striated muscle involvement' + 'Heart-hand syndrome, Slovenian type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' + 'Heart-hand syndrome, Slovenian type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heart-hand syndrome' + 'Heart-hand syndrome, Slovenian type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_240266 Label(s): OBSOLETE: Systemic non-Langerhans cell histiocytosis + 'OBSOLETE: Systemic non-Langerhans cell histiocytosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_2234 Label(s): Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome + 'Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_1867 Label(s): Hereditary bullous dystrophy, macular type + 'Hereditary bullous dystrophy, macular type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' + 'Hereditary bullous dystrophy, macular type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Hereditary bullous dystrophy, macular type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293987 Label(s): Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome + 'Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_1864 Label(s): OBSOLETE: Congenital valvular dysplasia + 'OBSOLETE: Congenital valvular dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'FLNA-related X-linked myxomatous valvular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2238 Label(s): Familial isolated hypoparathyroidism + 'Familial isolated hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Familial isolated hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hypoparathyroidism' + 'Familial isolated hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Familial isolated hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_1861 Label(s): Thoracic dysplasia-hydrocephalus syndrome + 'Thoracic dysplasia-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathies with major skeletal involvement' + 'Thoracic dysplasia-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Thoracic dysplasia-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' + 'Thoracic dysplasia-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_314419 Label(s): Ameloblastoma + 'Ameloblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontogenic tumor' Class: http://www.orpha.net/ORDO/Orphanet_168782 Label(s): Childhood disintegrative disorder + 'Childhood disintegrative disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pervasive developmental disorder' Class: http://www.orpha.net/ORDO/Orphanet_295241 Label(s): Macrodactyly of fingers, bilateral + 'Macrodactyly of fingers, bilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Macrodactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_86913 Label(s): Myoclonic epilepsy in non-progressive encephalopathies + 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295243 Label(s): Macrodactyly of toes, unilateral + 'Macrodactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Macrodactyly of toes' + 'Macrodactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PIK3CA-related overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86914 Label(s): Lymphedema-cerebral arteriovenous anomaly syndrome + 'Lymphedema-cerebral arteriovenous anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex vascular malformation with associated anomalies' Class: http://www.orpha.net/ORDO/Orphanet_1858 Label(s): Skeletal dysplasia-epilepsy-short stature syndrome + 'Skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_293978 Label(s): Deficiency in anterior pituitary function-variable immunodeficiency syndrome + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disease associated with non-acquired combined pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1855 Label(s): Spondyloenchondrodysplasia + 'Spondyloenchondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' + 'Spondyloenchondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'Spondyloenchondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' + 'Spondyloenchondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_79282 Label(s): Methylmalonic acidemia with homocystinuria, type cblC + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic uremic syndrome' + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Methylmalonic acidemia with homocystinuria' + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hemolytic uremic syndrome' + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1852 Label(s): X-linked retinal dysplasia + 'X-linked retinal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal disorder' + 'X-linked retinal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_1851 Label(s): Multicystic dysplastic kidney + 'Multicystic dysplastic kidney' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' + 'Multicystic dysplastic kidney' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_1850 Label(s): Renal dysplasia-megalocystis-sirenomelia syndrome + 'Renal dysplasia-megalocystis-sirenomelia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Familial caudal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_120239 Label(s): translocated promoter region, nuclear basket protein + 'translocated promoter region, nuclear basket protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_314404 Label(s): Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome + 'Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' + 'Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare sleep disorder' + 'Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_213746 Label(s): Transitional cell carcinoma of the corpus uteri + 'Transitional cell carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_404560 Label(s): Familial atypical multiple mole melanoma syndrome + 'Familial atypical multiple mole melanoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Familial atypical multiple mole melanoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Familial atypical multiple mole melanoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_324381 Label(s): Hereditary inclusion body myopathy type 4 + 'Hereditary inclusion body myopathy type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inclusion myopathy' Class: http://www.orpha.net/ORDO/Orphanet_1849 Label(s): OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome + 'OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_1848 Label(s): Renal agenesis, bilateral + 'Renal agenesis, bilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal agenesis' Class: http://www.orpha.net/ORDO/Orphanet_93554 Label(s): Mixed cryoglobulinemia type II + 'Mixed cryoglobulinemia type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cryoglobulinemic vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_93349 Label(s): X-linked spondyloepimetaphyseal dysplasia + 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_293967 Label(s): Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1844 Label(s): OBSOLETE: Bone dysplasia, Azouz type + 'OBSOLETE: Bone dysplasia, Azouz type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_1842 Label(s): Bone dysplasia, lethal Holmgren type + 'Bone dysplasia, lethal Holmgren type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_189466 Label(s): Familial isolated hypoparathyroidism due to impaired PTH secretion + 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial isolated hypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_91350 Label(s): Pituitary deficiency due to Rathke cleft cysts + 'Pituitary deficiency due to Rathke cleft cysts' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency of tumoral origin' Class: http://www.orpha.net/ORDO/Orphanet_46489 Label(s): OBSOLETE: Bullous systemic lupus erythematosus + 'OBSOLETE: Bullous systemic lupus erythematosus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_46488 Label(s): Linear IgA dermatosis + 'Linear IgA dermatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune bullous skin disease' Class: http://www.orpha.net/ORDO/Orphanet_46486 Label(s): Mucous membrane pemphigoid + 'Mucous membrane pemphigoid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune bullous skin disease' + 'Mucous membrane pemphigoid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eyelid malposition disorder' Class: http://www.orpha.net/ORDO/Orphanet_2245 Label(s): OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome + 'OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_701 Label(s): Alopecia universalis + 'Alopecia universalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Alopecia universalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' Class: http://www.orpha.net/ORDO/Orphanet_1839 Label(s): Hereditary mucoepithelial dysplasia + 'Hereditary mucoepithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Hereditary mucoepithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Hereditary mucoepithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' + 'Hereditary mucoepithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_1838 Label(s): Metaphyseal dysplasia without hypotrichosis + 'Metaphyseal dysplasia without hypotrichosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cartilage-hair hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_1837 Label(s): Ulna metaphyseal dysplasia syndrome + 'Ulna metaphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1834 Label(s): Axial mesodermal dysplasia spectrum + 'Axial mesodermal dysplasia spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Axial mesodermal dysplasia spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_213751 Label(s): Malignant germ cell tumor of the corpus uteri + 'Malignant germ cell tumor of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_1830 Label(s): Schimke immuno-osseous dysplasia + 'Schimke immuno-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Schimke immuno-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformative syndrome with dentinogenesis imperfecta' + 'Schimke immuno-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Schimke immuno-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immuno-osseous dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2249 Label(s): Ulna hypoplasia-intellectual disability syndrome + 'Ulna hypoplasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Ulna hypoplasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ulna hypoplasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Ulna hypoplasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_48686 Label(s): Primary effusion lymphoma + 'Primary effusion lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Primary effusion lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive B-cell non-Hodgkin lymphoma' + 'Primary effusion lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Human herpesvirus 8-related disorder' Class: http://www.orpha.net/ORDO/Orphanet_444099 Label(s): Autosomal dominant spastic paraplegia type 73 + 'Autosomal dominant spastic paraplegia type 73' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_324364 Label(s): Mixed sclerosing bone dystrophy with extra-skeletal manifestations + 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_444092 Label(s): Autoimmune interstitial lung disease-arthritis syndrome + 'Autoimmune interstitial lung disease-arthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a systemic disease' + 'Autoimmune interstitial lung disease-arthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic systemic disease with glomerulopathy as a major feature' + 'Autoimmune interstitial lung disease-arthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric systemic disease' + 'Autoimmune interstitial lung disease-arthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' + 'Autoimmune interstitial lung disease-arthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic interstitial lung disease' + 'Autoimmune interstitial lung disease-arthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_1300 Label(s): Autosomal dominant popliteal pterygium syndrome + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Popliteal pterygium syndrome' Class: http://www.orpha.net/ORDO/Orphanet_42062 Label(s): Iminoglycinuria + 'Iminoglycinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of neutral amino acid transport' Class: http://www.orpha.net/ORDO/Orphanet_1306 Label(s): Buschke-Ollendorff syndrome + 'Buschke-Ollendorff syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' + 'Buschke-Ollendorff syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dermis elastic tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_1308 Label(s): C syndrome + 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_1827 Label(s): Acromelic frontonasal dysplasia + 'Acromelic frontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' + 'Acromelic frontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acromelic frontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Acromelic frontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1824 Label(s): Lowry-Wood syndrome + 'Lowry-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' Class: http://www.orpha.net/ORDO/Orphanet_1823 Label(s): OBSOLETE: Localized epiphyseal dysplasia + 'OBSOLETE: Localized epiphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1822 Label(s): Dysplasia epiphysealis hemimelica + 'Dysplasia epiphysealis hemimelica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_220465 Label(s): Laron syndrome with immunodeficiency + 'Laron syndrome with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Growth hormone insensitivity syndrome' + 'Laron syndrome with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic autoimmune enteropathy' + 'Laron syndrome with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_324353 Label(s): Congenital achiasma + 'Congenital achiasma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial nerve and nuclear aplasia' Class: http://www.orpha.net/ORDO/Orphanet_1170 Label(s): Autosomal recessive cerebelloparenchymal disorder type 3 + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital cerebellar ataxia' + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_1310 Label(s): Caffey disease + 'Caffey disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal osteosclerotic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_556037 Label(s): Late-onset familial hypoaldosteronism + 'Late-onset familial hypoaldosteronism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial hypoaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_1517 Label(s): Cantú syndrome + 'Cantú syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cantú syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant craniofacial involvement' + 'Cantú syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1314 Label(s): Symmetrical thalamic calcifications + 'Symmetrical thalamic calcifications' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_563708 Label(s): Syndromic congenital sodium diarrhea + 'Syndromic congenital sodium diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital intestinal transport defect' + 'Syndromic congenital sodium diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intractable diarrhea of infancy' + 'Syndromic congenital sodium diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_1818 Label(s): Ectodermal dysplasia, trichoodontoonychial type + 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293939 Label(s): Distal Xq28 microduplication syndrome + 'Distal Xq28 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Distal Xq28 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_1816 Label(s): Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome + 'Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_119140 Label(s): calcium voltage-gated channel subunit alpha1 C + 'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'disease-causing germline mutation(s) in' some 'Atypical Timothy syndrome' + 'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'disease-causing germline mutation(s) in' some 'Timothy syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_1812 Label(s): Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome + 'Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_716 Label(s): Phenylketonuria + 'Phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' + 'Phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phenylalanine metabolism' + 'Phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_565909 Label(s): Calpain-3-related limb-girdle muscular dystrophy D4 + 'Calpain-3-related limb-girdle muscular dystrophy D4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of calpain' + 'Calpain-3-related limb-girdle muscular dystrophy D4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_444077 Label(s): Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome + 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_364063 Label(s): Infantile epileptic-dyskinetic encephalopathy + 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ARX-related epileptic encephalopathy' + 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' Class: http://www.orpha.net/ORDO/Orphanet_495879 Label(s): Congenital agenesis of the scrotum + 'Congenital agenesis of the scrotum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of male' Class: http://www.orpha.net/ORDO/Orphanet_444072 Label(s): Cerebellar-facial-dental syndrome + 'Cerebellar-facial-dental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebellar-facial-dental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontal or periodontal disorder' + 'Cerebellar-facial-dental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontal or periodontal disorder' + 'Cerebellar-facial-dental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Cerebellar-facial-dental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebellar-facial-dental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_495875 Label(s): Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome + 'Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' + 'Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2255 Label(s): Pancreatic hypoplasia-diabetes-congenital heart disease syndrome + 'Pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'Pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_413690 Label(s): OBSOLETE: Methotrexate toxicity or dose selection + 'OBSOLETE: Methotrexate toxicity or dose selection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Methotrexate dose selection' Class: http://www.orpha.net/ORDO/Orphanet_1807 Label(s): Focal facial dermal dysplasia type III + 'Focal facial dermal dysplasia type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal facial dermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_293928 Label(s): sodium voltage-gated channel alpha subunit 8 + 'sodium voltage-gated channel alpha subunit 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_363700 Label(s): Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion + 'Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurofibromatosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_1803 Label(s): Thoracomelic dysplasia + 'Thoracomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' + 'Thoracomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathies with major skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_1801 Label(s): Kyphomelic dysplasia + 'Kyphomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Campomelic dysplasia and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_363705 Label(s): Craniofaciofrontodigital syndrome + 'Craniofaciofrontodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant craniofacial involvement' + 'Craniofaciofrontodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutis laxa' + 'Craniofaciofrontodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Craniofaciofrontodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_216796 Label(s): Osteogenesis imperfecta type 1 + 'Osteogenesis imperfecta type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteogenesis imperfecta' + 'Osteogenesis imperfecta type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' Class: http://www.orpha.net/ORDO/Orphanet_444069 Label(s): Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome + 'Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_488197 Label(s): Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome + 'Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' + 'Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental anomaly without extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_488191 Label(s): Female infertility due to oocyte meiotic arrest + 'Female infertility due to oocyte meiotic arrest' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to oocyte maturation defect' Class: http://www.orpha.net/ORDO/Orphanet_500 Label(s): Noonan syndrome with multiple lentigines + 'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited hematologic cancer-predisposing syndrome' + 'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Noonan syndrome with multiple lentigines' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Noonan syndrome and Noonan-related syndrome' Class: http://www.orpha.net/ORDO/Orphanet_504 Label(s): Creeping myiasis + 'Creeping myiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutaneous myiasis' Class: http://www.orpha.net/ORDO/Orphanet_1336 Label(s): Hyperkeratosis-hyperpigmentation syndrome + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_722 Label(s): Hypoplasminogenemia + 'Hypoplasminogenemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'Hypoplasminogenemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with conjunctival involvement as a major feature' + 'Hypoplasminogenemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with conjunctival involvement as a major feature' + 'Hypoplasminogenemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_363710 Label(s): Spinocerebellar ataxia type 37 + 'Spinocerebellar ataxia type 37' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_213772 Label(s): Adenocarcinoma of the cervix uteri + 'Adenocarcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_293910 Label(s): Familial isolated arrhythmogenic ventricular dysplasia, right dominant form + 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial isolated arrhythmogenic right ventricular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_728 Label(s): Relapsing polychondritis + 'Relapsing polychondritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' + 'Relapsing polychondritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Relapsing polychondritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_141013 Label(s): First branchial cleft anomaly + 'First branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_3105 Label(s): Robinow-like syndrome + 'Robinow-like syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Peters plus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_544628 Label(s): Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome + 'Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare diabetes mellitus type 2' + 'Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial hyperinsulinism' + 'Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_444051 Label(s): 20q11.2 microdeletion syndrome + '20q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 20' + '20q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '20q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_324321 Label(s): Sinoatrial node dysfunction and deafness + 'Sinoatrial node dysfunction and deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' + 'Sinoatrial node dysfunction and deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_210163 Label(s): Congenital lethal myopathy, Compton-North type + 'Congenital lethal myopathy, Compton-North type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'Congenital lethal myopathy, Compton-North type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_2008 Label(s): Acrocardiofacial syndrome + 'Acrocardiofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acrocardiofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acrocardiofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_77304 Label(s): OBSOLETE: Not NOTCH3-related small vessel disease of the brain + 'OBSOLETE: Not NOTCH3-related small vessel disease of the brain' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HTRA1-related cerebral small vessel disease' Class: http://www.orpha.net/ORDO/Orphanet_71505 Label(s): Cancer-associated retinopathy + 'Cancer-associated retinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal disorder' + 'Cancer-associated retinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paraneoplastic neurologic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228003 Label(s): Severe combined immunodeficiency due to CORO1A deficiency + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_363722 Label(s): Alexander disease type II + 'Alexander disease type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alexander disease' + 'Alexander disease type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cortical involvement' + 'Alexander disease type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' Class: http://www.orpha.net/ORDO/Orphanet_166105 Label(s): FASTKD2-related infantile mitochondrial encephalomyopathy + 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' Class: http://www.orpha.net/ORDO/Orphanet_364039 Label(s): Hydroa vacciniforme-like lymphoma + 'Hydroa vacciniforme-like lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Hydroa vacciniforme-like lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_444048 Label(s): 46,XX ovarian dysgenesis-short stature syndrome + '46,XX ovarian dysgenesis-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + '46,XX ovarian dysgenesis-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gonadal dysgenesis of gynecological interest' + '46,XX ovarian dysgenesis-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to gonadal dysgenesis' + '46,XX ovarian dysgenesis-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XX disorder of gonadal development' + '46,XX ovarian dysgenesis-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' Class: http://www.orpha.net/ORDO/Orphanet_244305 Label(s): Dominant hypophosphatemia with nephrolithiasis or osteoporosis + 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatemic rickets' + 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_364033 Label(s): Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood + 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_210159 Label(s): Adult hepatocellular carcinoma + 'Adult hepatocellular carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hepatocellular carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_324313 Label(s): 9p13 microdeletion syndrome + '9p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '9p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 9' + '9p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_495844 Label(s): C11ORF73-related autosomal recessive hypomyelinating leukodystrophy + 'C11ORF73-related autosomal recessive hypomyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'C11ORF73-related autosomal recessive hypomyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_732 Label(s): Polymyositis + 'Polymyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'Polymyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_597874 Label(s): MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome + 'MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of folate metabolism and transport' + 'MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with epilepsy' + 'MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_735 Label(s): Porokeratosis of Mibelli + 'Porokeratosis of Mibelli' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Porokeratosis' + 'Porokeratosis of Mibelli' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic porokeratosis' Class: http://www.orpha.net/ORDO/Orphanet_3112 Label(s): Patella aplasia-coxa vara-tarsal synostosis syndrome + 'Patella aplasia-coxa vara-tarsal synostosis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Coxopodopatellar syndrome' Class: http://www.orpha.net/ORDO/Orphanet_364028 Label(s): X-linked intellectual disability due to GRIA3 mutations + 'X-linked intellectual disability due to GRIA3 mutations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability due to GRIA3 mutations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_488168 Label(s): Microcephaly-congenital cataract-psoriasiform dermatitis syndrome + 'Microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic epidermal disorder' + 'Microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sterol biosynthesis disorder' + 'Microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_1525 Label(s): Cranio-osteoarthropathy + 'Cranio-osteoarthropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary hypertrophic osteoarthropathy' Class: http://www.orpha.net/ORDO/Orphanet_324307 Label(s): Severe lateral tibial bowing with short stature + 'Severe lateral tibial bowing with short stature' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Campomelic dysplasia and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_2013 Label(s): Cleft palate-large ears-small head syndrome + 'Cleft palate-large ears-small head syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139578 Label(s): Mutilating hereditary sensory neuropathy with spastic paraplegia + 'Mutilating hereditary sensory neuropathy with spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Mutilating hereditary sensory neuropathy with spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_2015 Label(s): Cleft palate-short stature-vertebral anomalies syndrome + 'Cleft palate-short stature-vertebral anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cleft palate-short stature-vertebral anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cleft palate-short stature-vertebral anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1361 Label(s): Carnosinase deficiency + 'Carnosinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Biological anomaly without phenotypic characterization' + 'Carnosinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of peptide metabolism' Class: http://www.orpha.net/ORDO/Orphanet_210144 Label(s): Lethal polymalformative syndrome, Boissel type + 'Lethal polymalformative syndrome, Boissel type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal polymalformative syndrome, Boissel type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210141 Label(s): Inherited congenital spastic tetraplegia + 'Inherited congenital spastic tetraplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neurological disorder' + 'Inherited congenital spastic tetraplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_519386 Label(s): Isolated congenital entropion + 'Isolated congenital entropion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with entropion' Class: http://www.orpha.net/ORDO/Orphanet_93599 Label(s): Primary hyperoxaluria type 2 + 'Primary hyperoxaluria type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary hyperoxaluria' Class: http://www.orpha.net/ORDO/Orphanet_166119 Label(s): Isolated osteopoikilosis + 'Isolated osteopoikilosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_364013 Label(s): Immune hydrops fetalis + 'Immune hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hydrops fetalis' Class: http://www.orpha.net/ORDO/Orphanet_91396 Label(s): Isolated cryptophthalmia + 'Isolated cryptophthalmia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cryptophthalmia' Class: http://www.orpha.net/ORDO/Orphanet_210136 Label(s): Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome + 'Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to adulthood' Class: http://www.orpha.net/ORDO/Orphanet_540 Label(s): Familial hemophagocytic lymphohistiocytosis + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary hemophagocytic lymphohistiocytosis' + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brain inflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_1375 Label(s): Cataract-hypertrichosis-intellectual disability syndrome + 'Cataract-hypertrichosis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Cataract-hypertrichosis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cataract-hypertrichosis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Cataract-hypertrichosis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' + 'Cataract-hypertrichosis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1376 Label(s): OBSOLETE: Congenital cataract-ichthyosis syndrome + 'OBSOLETE: Congenital cataract-ichthyosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal ichthyosis syndrome with other associated signs' Class: http://www.orpha.net/ORDO/Orphanet_548 Label(s): Leprosy + 'Leprosy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with obstructive azoospermia' + 'Leprosy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with peripheral neuropathy' + 'Leprosy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_519394 Label(s): OBSOLETE: Isolated microphakia + 'OBSOLETE: Isolated microphakia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated microspherophakia' Class: http://www.orpha.net/ORDO/Orphanet_206594 Label(s): Subacute inflammatory demyelinating polyneuropathy + 'Subacute inflammatory demyelinating polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute and subacute inflammatory demyelinating polyneuropathy' Class: http://www.orpha.net/ORDO/Orphanet_519398 Label(s): Isolated foveal hypoplasia + 'Isolated foveal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_252054 Label(s): Hemangioblastoma + 'Hemangioblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nervous system tumor' Class: http://www.orpha.net/ORDO/Orphanet_252050 Label(s): Primary melanoma of the central nervous system + 'Primary melanoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary melanocytic tumor of central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_141051 Label(s): Facial dermoid cyst + 'Facial dermoid cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_99989 Label(s): Intermediate DEND syndrome + 'Intermediate DEND syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal diabetes mellitus' + 'Intermediate DEND syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_444013 Label(s): Combined oxidative phosphorylation defect type 23 + 'Combined oxidative phosphorylation defect type 23' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Combined oxidative phosphorylation defect type 23' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 23' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Combined oxidative phosphorylation defect type 23' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_210128 Label(s): Urocanic aciduria + 'Urocanic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of histidine metabolism' + 'Urocanic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_1381 Label(s): Cataract-intellectual disability-anal atresia-urinary defects syndrome + 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2027 Label(s): Gingival fibromatosis-progressive deafness syndrome + 'Gingival fibromatosis-progressive deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis-progressive deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Gingival fibromatosis-progressive deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_210122 Label(s): Congenital alveolar capillary dysplasia + 'Congenital alveolar capillary dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + 'Congenital alveolar capillary dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic interstitial lung disease' Class: http://www.orpha.net/ORDO/Orphanet_2028 Label(s): Juvenile hyaline fibromatosis + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyaline fibromatosis syndrome' + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' + 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_96095 Label(s): 3q26 microduplication syndrome + '3q26 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 3' + '3q26 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_96094 Label(s): Distal trisomy 2q + 'Distal trisomy 2q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 2' Class: http://www.orpha.net/ORDO/Orphanet_1388 Label(s): Catel-Manzke syndrome + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96092 Label(s): 8p inverted duplication/deletion syndrome + '8p inverted duplication/deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex chromosomal rearrangement' Class: http://www.orpha.net/ORDO/Orphanet_252046 Label(s): Meningeal melanocytoma + 'Meningeal melanocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary melanocytic tumor of central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_412066 Label(s): PRKAR1B-related neurodegenerative dementia with intermediate filaments + 'PRKAR1B-related neurodegenerative dementia with intermediate filaments' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease with dementia' + 'PRKAR1B-related neurodegenerative dementia with intermediate filaments' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_98299 Label(s): OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly + 'OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_98298 Label(s): OBSOLETE: Ichthyosis associated with a peroxisomal disease + 'OBSOLETE: Ichthyosis associated with a peroxisomal disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_98297 Label(s): OBSOLETE: Ichthyosis associated with a protein catabolism anomaly + 'OBSOLETE: Ichthyosis associated with a protein catabolism anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_98296 Label(s): OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly + 'OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_583595 Label(s): Serine biosynthesis pathway deficiency, infantile/juvenile form + 'Serine biosynthesis pathway deficiency, infantile/juvenile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disorder due to serine deficiency' + 'Serine biosynthesis pathway deficiency, infantile/juvenile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141064 Label(s): Lower lip fistula + 'Lower lip fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_444002 Label(s): 11q22.2q22.3 microdeletion syndrome + '11q22.2q22.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 11' + '11q22.2q22.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '11q22.2q22.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_210115 Label(s): Sterile multifocal osteomyelitis with periostitis and pustulosis + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic inflammatory or rheumatoid-like osteoarthropathy' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome of childhood' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_1393 Label(s): Cerebrocostomandibular syndrome + 'Cerebrocostomandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebrocostomandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' + 'Cerebrocostomandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_210110 Label(s): Intermediate osteopetrosis + 'Intermediate osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_412057 Label(s): Autosomal recessive cerebellar ataxia due to STUB1 deficiency + 'Autosomal recessive cerebellar ataxia due to STUB1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive cerebellar ataxia due to STUB1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_141071 Label(s): Digestive duplication cyst of the tongue + 'Digestive duplication cyst of the tongue' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_141074 Label(s): External auditory canal aplasia/hypoplasia + 'External auditory canal aplasia/hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pinnae and external auditory canal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2036 Label(s): Scalp-ear-nipple syndrome + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic mixed dermis disorder' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed dermis disorder' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Deficient breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_2037 Label(s): Congenital aortopulmonary window + 'Congenital aortopulmonary window' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Conotruncal heart malformations' Class: http://www.orpha.net/ORDO/Orphanet_96076 Label(s): Beckwith-Wiedemann syndrome due to 11p15 microduplication + 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 11' + 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beckwith-Wiedemann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96074 Label(s): Distal trisomy 7p + 'Distal trisomy 7p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_96071 Label(s): Distal trisomy 3p + 'Distal trisomy 3p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 3' Class: http://www.orpha.net/ORDO/Orphanet_96070 Label(s): Distal trisomy 2p + 'Distal trisomy 2p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 2' + 'Distal trisomy 2p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_252021 Label(s): Mixed germ cell tumor of central nervous system + 'Mixed germ cell tumor of central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary germ cell tumor of central nervous system' + 'Mixed germ cell tumor of central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_478664 Label(s): Hereditary sensory and autonomic neuropathy type 8 + 'Hereditary sensory and autonomic neuropathy type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2282 Label(s): Dysmorphism-short stature-deafness-disorder of sex development syndrome + 'Dysmorphism-short stature-deafness-disorder of sex development syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'Dysmorphism-short stature-deafness-disorder of sex development syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dysmorphism-short stature-deafness-disorder of sex development syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dysmorphism-short stature-deafness-disorder of sex development syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' Class: http://www.orpha.net/ORDO/Orphanet_98603 Label(s): OBSOLETE: Secretory apparatus of the lacrimal system anomaly + 'OBSOLETE: Secretory apparatus of the lacrimal system anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the lacrimal apparatus' Class: http://www.orpha.net/ORDO/Orphanet_96068 Label(s): Mosaic trisomy 22 + 'Mosaic trisomy 22' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_2285 Label(s): Primary basilar invagination + 'Primary basilar invagination' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic medullar disease' + 'Primary basilar invagination' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_1598 Label(s): Monosomy 18p + 'Monosomy 18p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 18' + 'Monosomy 18p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_306550 Label(s): FADD-related immunodeficiency + 'FADD-related immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' Class: http://www.orpha.net/ORDO/Orphanet_96060 Label(s): Mosaic trisomy 5 + 'Mosaic trisomy 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_252018 Label(s): Teratoma of the central nervous system + 'Teratoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal teratoma' + 'Teratoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary germ cell tumor of central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_252015 Label(s): Choriocarcinoma of the central nervous system + 'Choriocarcinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary germ cell tumor of central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_412035 Label(s): 13q12.3 microdeletion syndrome + '13q12.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '13q12.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + '13q12.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 13' + '13q12.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2040 Label(s): Congenital respiratory-biliary fistula + 'Congenital respiratory-biliary fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital respiratory-biliary fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Congenital respiratory-biliary fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic visceral malformation' + 'Congenital respiratory-biliary fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_2041 Label(s): Coronary arterial fistula + 'Coronary arterial fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Coronary artery congenital malformation' Class: http://www.orpha.net/ORDO/Orphanet_590 Label(s): Congenital myasthenic syndrome + 'Congenital myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Congenital myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Congenital myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neuromuscular junction disease' + 'Congenital myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' Class: http://www.orpha.net/ORDO/Orphanet_306692 Label(s): Cyanide-induced parkinsonism-dystonia + 'Cyanide-induced parkinsonism-dystonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to intoxication' + 'Cyanide-induced parkinsonism-dystonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_98784 Label(s): Autosomal dominant nocturnal frontal lobe epilepsy + 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect' + 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' + 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_98619 Label(s): Rare isolated myopia + 'Rare isolated myopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare refraction anomaly' Class: http://www.orpha.net/ORDO/Orphanet_597 Label(s): Central core disease + 'Central core disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy with cores' + 'Central core disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic ryanodine receptor defect' Class: http://www.orpha.net/ORDO/Orphanet_252006 Label(s): Yolk sac tumor of central nervous system + 'Yolk sac tumor of central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Yolk sac tumor' + 'Yolk sac tumor of central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary germ cell tumor of central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_431886 Label(s): solute carrier family 6 member 1 + 'solute carrier family 6 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_412022 Label(s): Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome + 'Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' Class: http://www.orpha.net/ORDO/Orphanet_100988 Label(s): Autosomal dominant spastic paraplegia type 6 + 'Autosomal dominant spastic paraplegia type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal dominant spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_306686 Label(s): Delayed encephalopathy due to carbon monoxide poisoning + 'Delayed encephalopathy due to carbon monoxide poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to intoxication' + 'Delayed encephalopathy due to carbon monoxide poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_306682 Label(s): Manganese poisoning + 'Manganese poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' + 'Manganese poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to intoxication' Class: http://www.orpha.net/ORDO/Orphanet_295205 Label(s): OBSOLETE: Humero-radio-ulnar synostosis, unilateral + 'OBSOLETE: Humero-radio-ulnar synostosis, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humero-radio-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_777 Label(s): X-linked non-syndromic intellectual disability + 'X-linked non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2051 Label(s): Fraser-like syndrome + 'Fraser-like syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Fraser syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2054 Label(s): OBSOLETE: Osteochondritis of tarsal/metatarsal bone + 'OBSOLETE: Osteochondritis of tarsal/metatarsal bone' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_2055 Label(s): Growth deficiency-brachydactyly-dysmorphism syndrome + 'Growth deficiency-brachydactyly-dysmorphism syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '14q22q23 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306674 Label(s): Kufor-Rakeb syndrome + 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ATP13A2-related parkinsonism' + 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Supranuclear eye movement disorder' + 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_2057 Label(s): Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome + 'Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98637 Label(s): OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly + 'OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Secondary early-onset glaucoma of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_585877 Label(s): B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality + 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Precursor B-cell acute lymphoblastic leukemia' + 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited hematologic cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228423 Label(s): Monocytopenia with susceptibility to infections + 'Monocytopenia with susceptibility to infections' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Quantitative and/or qualitative congenital phagocyte defect' Class: http://www.orpha.net/ORDO/Orphanet_255210 Label(s): Mitochondrial DNA-associated Leigh syndrome + 'Mitochondrial DNA-associated Leigh syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Mitochondrial DNA-associated Leigh syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_529852 Label(s): Combined hepatocellular carcinoma and cholangiocarcinoma + 'Combined hepatocellular carcinoma and cholangiocarcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of gallbladder and extrahepatic biliary tract' + 'Combined hepatocellular carcinoma and cholangiocarcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_306661 Label(s): Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome + 'Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial tumoral calcinosis' + 'Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-N-acetylgalactosaminylglycan synthesis' + 'Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_263317 Label(s): Thymoma type B + 'Thymoma type B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thymoma' Class: http://www.orpha.net/ORDO/Orphanet_228429 Label(s): Generalized congenital lipodystrophy with myopathy + 'Generalized congenital lipodystrophy with myopathy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Congenital generalized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_56305 Label(s): Atelosteogenesis type III + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filamin-related bone disorder' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with bone disease' Class: http://www.orpha.net/ORDO/Orphanet_56304 Label(s): Atelosteogenesis type II + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with bone disease' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sulfation-related bone disorder' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2062 Label(s): Progressive non-infectious anterior vertebral fusion + 'Progressive non-infectious anterior vertebral fusion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' + 'Progressive non-infectious anterior vertebral fusion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2063 Label(s): Splenogonadal fusion-limb defects-micrognathia syndrome + 'Splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic visceral malformation' + 'Splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306658 Label(s): Familial normophosphatemic tumoral calcinosis + 'Familial normophosphatemic tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial tumoral calcinosis' Class: http://www.orpha.net/ORDO/Orphanet_2064 Label(s): Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome + 'Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2065 Label(s): Galloway-Mowat syndrome + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1547 Label(s): Cryptomicrotia-brachydactyly-excess fingertip arch syndrome + 'Cryptomicrotia-brachydactyly-excess fingertip arch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cryptomicrotia-brachydactyly-excess fingertip arch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2069 Label(s): Gastrocutaneous syndrome + 'Gastrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' + 'Gastrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic gastro-esophageal disease' + 'Gastrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Gastrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_92050 Label(s): Congenital tufting enteropathy + 'Congenital tufting enteropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intractable diarrhea of infancy' + 'Congenital tufting enteropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital enteropathy involving intestinal mucosa development' + 'Congenital tufting enteropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_98662 Label(s): OBSOLETE: Unclassified familial retinal dystrophy + 'OBSOLETE: Unclassified familial retinal dystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_306644 Label(s): Complication after organ transplantation + 'Complication after organ transplantation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for transplant or complication after transplantation' Class: http://www.orpha.net/ORDO/Orphanet_623801 Label(s): Acute flaccid myelitis + 'Acute flaccid myelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_268920 Label(s): Isolated megalencephaly + 'Isolated megalencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebral malformation' + 'Isolated megalencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Megalencephaly' Class: http://www.orpha.net/ORDO/Orphanet_141209 Label(s): Diffuse lymphatic malformation + 'Diffuse lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_3172 Label(s): Eyebrow duplication-syndactyly syndrome + 'Eyebrow duplication-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_98204 Label(s): OBSOLETE: Heredodegenerative disease with dystonia as a major feature + 'OBSOLETE: Heredodegenerative disease with dystonia as a major feature' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_2075 Label(s): Genitopalatocardiac syndrome + 'Genitopalatocardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Genitopalatocardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Genitopalatocardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Genitopalatocardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_443236 Label(s): Postural orthostatic tachycardia syndrome due to NET deficiency + 'Postural orthostatic tachycardia syndrome due to NET deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic primary orthostatic disorder' + 'Postural orthostatic tachycardia syndrome due to NET deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary orthostatic disorder' Class: http://www.orpha.net/ORDO/Orphanet_98677 Label(s): OBSOLETE: Autosomal recessive syndromic optic atrophy + 'OBSOLETE: Autosomal recessive syndromic optic atrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_95494 Label(s): Combined pituitary hormone deficiencies, genetic forms + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature' + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations' Class: http://www.orpha.net/ORDO/Orphanet_158799 Label(s): OBSOLETE: Aleukemic mast cell leukemia + 'OBSOLETE: Aleukemic mast cell leukemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mast cell leukemia' Class: http://www.orpha.net/ORDO/Orphanet_158796 Label(s): OBSOLETE: Classic mast cell leukemia + 'OBSOLETE: Classic mast cell leukemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mast cell leukemia' Class: http://www.orpha.net/ORDO/Orphanet_158793 Label(s): OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia + 'OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Aggressive systemic mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_597887 Label(s): ALPI-related inflammatory bowel disease + 'ALPI-related inflammatory bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' + 'ALPI-related inflammatory bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_268940 Label(s): Bilateral polymicrogyria + 'Bilateral polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_268943 Label(s): Unilateral polymicrogyria + 'Unilateral polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_363992 Label(s): Ichthyosis-short stature-brachydactyly-microspherophakia syndrome + 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microspherophakia' + 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' Class: http://www.orpha.net/ORDO/Orphanet_268947 Label(s): Unilateral focal polymicrogyria + 'Unilateral focal polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unilateral polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_314399 Label(s): Autosomal dominant aplasia and myelodysplasia + 'Autosomal dominant aplasia and myelodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_314394 Label(s): Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome + 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathy' Class: http://www.orpha.net/ORDO/Orphanet_2081 Label(s): Cerebral gigantism-jaw cysts syndrome + 'Cerebral gigantism-jaw cysts syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Gorlin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2410 Label(s): Hypergonadotropic hypogonadism-cataract syndrome + 'Hypergonadotropic hypogonadism-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' + 'Hypergonadotropic hypogonadism-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Hypergonadotropic hypogonadism-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_2083 Label(s): Prominent glabella-microcephaly-hypogenitalism syndrome + 'Prominent glabella-microcephaly-hypogenitalism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Prominent glabella-microcephaly-hypogenitalism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3186 Label(s): Holoprosencephaly-radial heart renal anomalies syndrome + 'Holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_506358 Label(s): Gabriele-de Vries syndrome + 'Gabriele-de Vries syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Gabriele-de Vries syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98691 Label(s): OBSOLETE: Abnormal eye movements + 'OBSOLETE: Abnormal eye movements' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuro-ophthalmological disease' Class: http://www.orpha.net/ORDO/Orphanet_506353 Label(s): Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction + 'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363989 Label(s): Familial benign flecked retina + 'Familial benign flecked retina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_98699 Label(s): OBSOLETE: Syndromic ichthyosis associated with ocular features + 'OBSOLETE: Syndromic ichthyosis associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited ichthyosis syndromic form' Class: http://www.orpha.net/ORDO/Orphanet_443995 Label(s): Mandibulofacial dysostosis with alopecia + 'Mandibulofacial dysostosis with alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mandibulofacial dysostosis' + 'Mandibulofacial dysostosis with alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Mandibulofacial dysostosis with alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Mandibulofacial dysostosis with alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_363981 Label(s): Charcot-Marie-Tooth disease type 4B3 + 'Charcot-Marie-Tooth disease type 4B3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_158778 Label(s): Isolated bone marrow mastocytosis + 'Isolated bone marrow mastocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_158775 Label(s): Smoldering systemic mastocytosis + 'Smoldering systemic mastocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_158772 Label(s): Nodular urticaria pigmentosa + 'Nodular urticaria pigmentosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maculopapular cutaneous mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_314381 Label(s): Hereditary sensory and autonomic neuropathy type 6 + 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_168811 Label(s): Malignant peritoneal mesothelioma + 'Malignant peritoneal mesothelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary malignant peritoneal tumor' Class: http://www.orpha.net/ORDO/Orphanet_248408 Label(s): Familial hypodysfibrinogenemia + 'Familial hypodysfibrinogenemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital fibrinogen deficiency' Class: http://www.orpha.net/ORDO/Orphanet_443988 Label(s): Ventriculomegaly-cystic kidney disease + 'Ventriculomegaly-cystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Ventriculomegaly-cystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Ventriculomegaly-cystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_391504 Label(s): Transient neonatal myasthenia gravis + 'Transient neonatal myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myasthenia gravis' + 'Transient neonatal myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_158769 Label(s): Plaque-form urticaria pigmentosa + 'Plaque-form urticaria pigmentosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maculopapular cutaneous mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_158766 Label(s): Typical urticaria pigmentosa + 'Typical urticaria pigmentosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maculopapular cutaneous mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_314376 Label(s): Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency + 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' Class: http://www.orpha.net/ORDO/Orphanet_508542 Label(s): Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome + 'Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Refractory cytopenia with multilineage dysplasia' + 'Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immuno-osseous dysplasia' + 'Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_314373 Label(s): Chronic infantile diarrhea due to guanylate cyclase 2C overactivity + 'Chronic infantile diarrhea due to guanylate cyclase 2C overactivity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' Class: http://www.orpha.net/ORDO/Orphanet_506334 Label(s): Familial steroid-resistant nephrotic syndrome with adrenal insufficiency + 'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' + 'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal hypoplasia congenita' + 'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_166409 Label(s): Photosensitive epilepsy + 'Photosensitive epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Reflex epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_363969 Label(s): Autosomal recessive cerebral atrophy + 'Autosomal recessive cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Autosomal recessive cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_2098 Label(s): Acromesomelic dysplasia, Grebe type + 'Acromesomelic dysplasia, Grebe type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_276280 Label(s): Hemihyperplasia-multiple lipomatosis syndrome + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare capillary malformation with associated anomalies' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PIK3CA-related overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2099 Label(s): OBSOLETE: Grix-Blankenship-Peterson syndrome + 'OBSOLETE: Grix-Blankenship-Peterson syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_363965 Label(s): Koolen-De Vries syndrome due to a point mutation + 'Koolen-De Vries syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Koolen-De Vries syndrome' Class: http://www.orpha.net/ORDO/Orphanet_52417 Label(s): MALT lymphoma + 'MALT lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marginal zone lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_238769 Label(s): 1q44 microdeletion syndrome + '1q44 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 1' Class: http://www.orpha.net/ORDO/Orphanet_508533 Label(s): Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome + 'Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' + 'Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immuno-osseous dysplasia' + 'Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_238766 Label(s): Ptosis-syndactyly-learning difficulties syndrome + 'Ptosis-syndactyly-learning difficulties syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '8q21.11 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363400 Label(s): Severe neurodegenerative syndrome with lipodystrophy + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lipodystrophy' + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_481481 Label(s): OBSOLETE: Gastric neuroendocrine tumor type 4 + 'OBSOLETE: Gastric neuroendocrine tumor type 4' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuroendocrine tumor of stomach' Class: http://www.orpha.net/ORDO/Orphanet_263355 Label(s): OBSOLETE: ATR-X-related syndrome + 'OBSOLETE: ATR-X-related syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363958 Label(s): 17q21.31 microdeletion syndrome + '17q21.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 17' + '17q21.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Koolen-De Vries syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217266 Label(s): BNAR syndrome + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nose and cavum anomaly' + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_424107 Label(s): Congenital myopathy with myasthenic-like onset + 'Congenital myopathy with myasthenic-like onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic ryanodine receptor defect' + 'Congenital myopathy with myasthenic-like onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_52429 Label(s): Branchiootic syndrome + 'Branchiootic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Branchiootic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Branchiootic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_624199 Label(s): Non-specific autoimmune brainstem encephalitis with characteristic antibodies + 'Non-specific autoimmune brainstem encephalitis with characteristic antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_508529 Label(s): Intermediate epidermolysis bullosa simplex with cardiomyopathy + 'Intermediate epidermolysis bullosa simplex with cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex with extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_563690 Label(s): Furuncular myiasis due to Cordylobia rodhaini + 'Furuncular myiasis due to Cordylobia rodhaini' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Furuncular myiasis' Class: http://www.orpha.net/ORDO/Orphanet_481478 Label(s): OBSOLETE: Gastric neuroendocrine tumor type 3 + 'OBSOLETE: Gastric neuroendocrine tumor type 3' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuroendocrine tumor of stomach' Class: http://www.orpha.net/ORDO/Orphanet_508523 Label(s): Hyperphenylalaninemia due to DNAJC12 deficiency + 'Hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pterin metabolism' + 'Hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' Class: http://www.orpha.net/ORDO/Orphanet_238755 Label(s): Autosomal dominant limb-girdle muscular dystrophy type 1H + 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_565899 Label(s): POMGNT2-related limb-girdle muscular dystrophy R24 + 'POMGNT2-related limb-girdle muscular dystrophy R24' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'POMGNT2-related limb-girdle muscular dystrophy R24' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'POMGNT2-related limb-girdle muscular dystrophy R24' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'POMGNT2-related limb-girdle muscular dystrophy R24' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' Class: http://www.orpha.net/ORDO/Orphanet_466026 Label(s): Class I glucose-6-phosphate dehydrogenase deficiency + 'Class I glucose-6-phosphate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to a disorder of glycolytic enzymes' Class: http://www.orpha.net/ORDO/Orphanet_276264 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group F + 'OBSOLETE: Xeroderma pigmentosum complementation group F' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_1798 Label(s): Dysostosis, Stanescu type + 'Dysostosis, Stanescu type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_1797 Label(s): Autosomal dominant spondylocostal dysostosis + 'Autosomal dominant spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_563684 Label(s): Furuncular myiasis due to Dermatobia hominis + 'Furuncular myiasis due to Dermatobia hominis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Furuncular myiasis' Class: http://www.orpha.net/ORDO/Orphanet_1794 Label(s): Oculomaxillofacial dysostosis + 'Oculomaxillofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Oculomaxillofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant craniofacial involvement' Class: http://www.orpha.net/ORDO/Orphanet_1792 Label(s): Humerospinal dysostosis + 'Humerospinal dysostosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'CHST3-related skeletal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_443950 Label(s): DNAJB2-related Charcot-Marie-Tooth disease type 2 + 'DNAJB2-related Charcot-Marie-Tooth disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_1790 Label(s): Hypomandibular faciocranial dysostosis + 'Hypomandibular faciocranial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' + 'Hypomandibular faciocranial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypomandibular faciocranial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypomandibular faciocranial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_481469 Label(s): OBSOLETE: Gastric neuroendocrine tumor type 1 + 'OBSOLETE: Gastric neuroendocrine tumor type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuroendocrine tumor of stomach' Class: http://www.orpha.net/ORDO/Orphanet_254525 Label(s): Temple syndrome due to paternal 14q32.2 microdeletion + 'Temple syndrome due to paternal 14q32.2 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Temple syndrome' + 'Temple syndrome due to paternal 14q32.2 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_555905 Label(s): IgA pemphigus + 'IgA pemphigus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune bullous skin disease' Class: http://www.orpha.net/ORDO/Orphanet_508512 Label(s): Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome + 'Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_238744 Label(s): Mammary-digital-nail syndrome + 'Mammary-digital-nail syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Excess breast volume or number' + 'Mammary-digital-nail syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic gynecological and obstetrical diseases' + 'Mammary-digital-nail syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Mammary-digital-nail syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_485358 Label(s): Propylthiouracil embryofetopathy + 'Propylthiouracil embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' + 'Propylthiouracil embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_165994 Label(s): Pituitary resistance to thyroid hormone + 'Pituitary resistance to thyroid hormone' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' Class: http://www.orpha.net/ORDO/Orphanet_506307 Label(s): Stromme syndrome + 'Stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' + 'Stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' + 'Stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy' + 'Stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic intestinal malformation' + 'Stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' + 'Stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_166418 Label(s): Eating reflex epilepsy + 'Eating reflex epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Reflex epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_276255 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group C + 'OBSOLETE: Xeroderma pigmentosum complementation group C' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_276252 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group B + 'OBSOLETE: Xeroderma pigmentosum complementation group B' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_1789 Label(s): OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome + 'OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1787 Label(s): Acrofacial dysostosis, Palagonia type + 'Acrofacial dysostosis, Palagonia type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Acrofacial dysostosis, Palagonia type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Palagonia type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1784 Label(s): Acrofrontofacionasal dysostosis + 'Acrofrontofacionasal dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_398189 Label(s): Focal facial dermal dysplasia type IV + 'Focal facial dermal dysplasia type IV' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal facial dermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1780 Label(s): Thakker-Donnai syndrome + 'Thakker-Donnai syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Thakker-Donnai syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295237 Label(s): OBSOLETE: Congenital patella dislocation, bilateral + 'OBSOLETE: Congenital patella dislocation, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital patella dislocation' Class: http://www.orpha.net/ORDO/Orphanet_36367 Label(s): Distal monosomy 1q + 'Distal monosomy 1q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 1' + 'Distal monosomy 1q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Distal monosomy 1q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_508501 Label(s): Oral-facial-digital syndrome with short stature and brachymesophalangy + 'Oral-facial-digital syndrome with short stature and brachymesophalangy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' + 'Oral-facial-digital syndrome with short stature and brachymesophalangy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathy' Class: http://www.orpha.net/ORDO/Orphanet_318745 Label(s): IKAROS family zinc finger 1 - 'IKAROS family zinc finger 1' SubClassOf 'biomarker tested in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'IKAROS family zinc finger 1' SubClassOf 'biomarker tested in' some 'B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)' Class: http://www.orpha.net/ORDO/Orphanet_51890 Label(s): Anterior cutaneous nerve entrapment syndrome + 'Anterior cutaneous nerve entrapment syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_208999 Label(s): Paraneoplastic sensory ganglionopathy + 'Paraneoplastic sensory ganglionopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paraneoplastic neurologic syndrome' + 'Paraneoplastic sensory ganglionopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired sensory ganglionopathy' Class: http://www.orpha.net/ORDO/Orphanet_251975 Label(s): Rosette-forming glioneuronal tumor + 'Rosette-forming glioneuronal tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed neuronal-glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_208994 Label(s): OBSOLETE: Other ganglionopathy related to autoimmune diseases + 'OBSOLETE: Other ganglionopathy related to autoimmune diseases' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-paraneoplastic sensory ganglionopathy' Class: http://www.orpha.net/ORDO/Orphanet_254688 Label(s): Complete hydatidiform mole + 'Complete hydatidiform mole' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hydatidiform mole' Class: http://www.orpha.net/ORDO/Orphanet_1779 Label(s): Dysmorphism-cleft palate-loose skin syndrome + 'Dysmorphism-cleft palate-loose skin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_563666 Label(s): Serous cystadenoma of childhood + 'Serous cystadenoma of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cystadenoma of childhood' Class: http://www.orpha.net/ORDO/Orphanet_293899 Label(s): Familial isolated arrhythmogenic ventricular dysplasia, biventricular form + 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial isolated arrhythmogenic right ventricular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1775 Label(s): Dyskeratosis congenita + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic lacrimal system disorder' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' + 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary poikiloderma' Class: http://www.orpha.net/ORDO/Orphanet_1770 Label(s): XY type gonadal dysgenesis-associated anomalies syndrome + 'XY type gonadal dysgenesis-associated anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'XY type gonadal dysgenesis-associated anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'XY type gonadal dysgenesis-associated anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_96123 Label(s): Monosomy 22 + 'Monosomy 22' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal monosomy' Class: http://www.orpha.net/ORDO/Orphanet_398173 Label(s): Focal facial dermal dysplasia type II + 'Focal facial dermal dysplasia type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal facial dermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_238722 Label(s): Familial congenital mirror movements + 'Familial congenital mirror movements' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare movement disorder' + 'Familial congenital mirror movements' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Familial congenital mirror movements' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_208989 Label(s): Non-paraneoplastic sensory ganglionopathy + 'Non-paraneoplastic sensory ganglionopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired sensory ganglionopathy' Class: http://www.orpha.net/ORDO/Orphanet_276238 Label(s): Machado-Joseph disease type 1 + 'Machado-Joseph disease type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spinocerebellar ataxia type 3' Class: http://www.orpha.net/ORDO/Orphanet_411986 Label(s): Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome + 'Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cortical involvement' + 'Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' Class: http://www.orpha.net/ORDO/Orphanet_208981 Label(s): Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies + 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic polyradiculoneuropathy' + 'Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peripheral neuropathy associated with monoclonal gammopathy' Class: http://www.orpha.net/ORDO/Orphanet_254698 Label(s): Epithelioid trophoblastic tumor + 'Epithelioid trophoblastic tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gestational trophoblastic neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_1767 Label(s): Familial progressive vestibulocochlear dysfunction + 'Familial progressive vestibulocochlear dysfunction' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_1765 Label(s): Dyschondrosteosis-nephritis syndrome + 'Dyschondrosteosis-nephritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Dyschondrosteosis-nephritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_391316 Label(s): Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_398166 Label(s): Focal facial dermal dysplasia + 'Focal facial dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_324299 Label(s): Multiple paragangliomas associated with polycythemia + 'Multiple paragangliomas associated with polycythemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pheochromocytoma-paraganglioma' + 'Multiple paragangliomas associated with polycythemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polycythemia' + 'Multiple paragangliomas associated with polycythemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neuroendocrine tumor' + 'Multiple paragangliomas associated with polycythemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic adrenal disease' + 'Multiple paragangliomas associated with polycythemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_36426 Label(s): Stevens-Johnson syndrome + 'Stevens-Johnson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum' Class: http://www.orpha.net/ORDO/Orphanet_244283 Label(s): Biliary atresia with splenic malformation syndrome + 'Biliary atresia with splenic malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic biliary atresia' + 'Biliary atresia with splenic malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic visceral malformation' + 'Biliary atresia with splenic malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_324294 Label(s): T-cell immunodeficiency with epidermodysplasia verruciformis + 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other immunodeficiency syndromes due to defects in innate immunity' Class: http://www.orpha.net/ORDO/Orphanet_65681 Label(s): Vaginal atresia + 'Vaginal atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_324290 Label(s): Early-onset Lafora body disease + 'Early-onset Lafora body disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_276223 Label(s): Mucopolysaccharidosis type 6, slowly progressing + 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 6' Class: http://www.orpha.net/ORDO/Orphanet_436245 Label(s): Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome + 'Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1759 Label(s): Thoraco-abdominal enteric duplication + 'Thoraco-abdominal enteric duplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_99107 Label(s): Atrial septal aneurysm + 'Atrial septal aneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare atrial defect and interatrial communication' Class: http://www.orpha.net/ORDO/Orphanet_1756 Label(s): Caudal duplication + 'Caudal duplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Caudal duplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_398156 Label(s): Oculoauriculofrontonasal syndrome + 'Oculoauriculofrontonasal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1501 Label(s): Adrenocortical carcinoma + 'Adrenocortical carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' + 'Adrenocortical carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal/paraganglial tumor' Class: http://www.orpha.net/ORDO/Orphanet_139564 Label(s): Hereditary sensory and autonomic neuropathy type 1B + 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_300345 Label(s): Autosomal systemic lupus erythematosus + 'Autosomal systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Autosomal systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Autosomal systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' + 'Autosomal systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' Class: http://www.orpha.net/ORDO/Orphanet_36414 Label(s): OBSOLETE: Brain stem tumor + 'OBSOLETE: Brain stem tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glioblastoma' Class: http://www.orpha.net/ORDO/Orphanet_36412 Label(s): Hypocomplementemic urticarial vasculitis + 'Hypocomplementemic urticarial vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric vasculitis' + 'Hypocomplementemic urticarial vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic systemic disease with glomerulopathy as a major feature' + 'Hypocomplementemic urticarial vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune complex mediated vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_306507 Label(s): LAMB2-related infantile-onset nephrotic syndrome + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pierson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306617 Label(s): X-linked complicated spastic paraplegia type 1 + 'X-linked complicated spastic paraplegia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'L1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_519406 Label(s): Thygeson superficial punctate keratitis + 'Thygeson superficial punctate keratitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory/autoimmune corneal disorder' Class: http://www.orpha.net/ORDO/Orphanet_308655 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glycogen branching enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_293864 Label(s): Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic biliary atresia' + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic intestinal malformation' + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_402082 Label(s): Progressive myoclonic epilepsy type 5 + 'Progressive myoclonic epilepsy type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_481986 Label(s): Familial schizencephaly + 'Familial schizencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy' + 'Familial schizencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Schizencephaly' Class: http://www.orpha.net/ORDO/Orphanet_565837 Label(s): Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 + 'Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminin subunit alpha 2-related muscular dystrophy' + 'Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_99110 Label(s): Right superior vena cava connecting to left-sided atrium + 'Right superior vena cava connecting to left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of superior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_40366 Label(s): Acitretin/etretinate embryopathy + 'Acitretin/etretinate embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_251937 Label(s): Gangliocytoma + 'Gangliocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed neuronal-glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_163927 Label(s): Pustulosis palmaris et plantaris + 'Pustulosis palmaris et plantaris' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Pustulosis palmaris et plantaris' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' Class: http://www.orpha.net/ORDO/Orphanet_99113 Label(s): Subaortic course of innominate vein + 'Subaortic course of innominate vein' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of superior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_2432 Label(s): Macrosomia-microphthalmia-cleft palate syndrome + 'Macrosomia-microphthalmia-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Macrosomia-microphthalmia-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Macrosomia-microphthalmia-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Macrosomia-microphthalmia-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_166457 Label(s): OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis + 'OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_99117 Label(s): Coronary sinus stenosis + 'Coronary sinus stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of the coronary sinus' Class: http://www.orpha.net/ORDO/Orphanet_391343 Label(s): Fatal post-viral neurodegenerative disorder + 'Fatal post-viral neurodegenerative disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Fatal post-viral neurodegenerative disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Fatal post-viral neurodegenerative disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brain inflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_99119 Label(s): Right inferior vena cava connecting to left-sided atrium + 'Right inferior vena cava connecting to left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of the inferior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_391348 Label(s): Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' Class: http://www.orpha.net/ORDO/Orphanet_324262 Label(s): Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency + 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118010 Label(s): protein kinase cAMP-dependent type I regulatory subunit alpha + 'protein kinase cAMP-dependent type I regulatory subunit alpha' SubClassOf 'disease-causing somatic mutation(s) in' some 'Adrenocortical carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_1408 Label(s): Hair defect-photosensitivity-intellectual disability syndrome + 'Hair defect-photosensitivity-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_391351 Label(s): SURF1-related Charcot-Marie-Tooth disease type 4 + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_293848 Label(s): Frontotemporal dementia, right temporal atrophy variant + 'Frontotemporal dementia, right temporal atrophy variant' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_563612 Label(s): Isolated exencephaly + 'Isolated exencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated anencephaly/exencephaly' Class: http://www.orpha.net/ORDO/Orphanet_1723 Label(s): Mosaic trisomy 2 + 'Mosaic trisomy 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_293843 Label(s): 3MC syndrome + '3MC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + '3MC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3MC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_398124 Label(s): Neonatal lupus erythematosus + 'Neonatal lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_244242 Label(s): HELLP syndrome + 'HELLP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'HELLP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired platelet anomaly' Class: http://www.orpha.net/ORDO/Orphanet_314017 Label(s): Idiopathic linear interstitial keratitis + 'Idiopathic linear interstitial keratitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory/autoimmune corneal disorder' Class: http://www.orpha.net/ORDO/Orphanet_314689 Label(s): Combined immunodeficiency due to STK4 deficiency + 'Combined immunodeficiency due to STK4 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_251912 Label(s): Pineocytoma + 'Pineocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pineal tumor of neuroepithelial tissue' Class: http://www.orpha.net/ORDO/Orphanet_563609 Label(s): Isolated anencephaly + 'Isolated anencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated anencephaly/exencephaly' Class: http://www.orpha.net/ORDO/Orphanet_1417 Label(s): OBSOLETE: Platyspondylic lethal chondrodysplasia + 'OBSOLETE: Platyspondylic lethal chondrodysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1717 Label(s): Distal trisomy 19q + 'Distal trisomy 19q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 19' Class: http://www.orpha.net/ORDO/Orphanet_293838 Label(s): Fatal infantile encephalopathy-pulmonary hypertension syndrome + 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Ataxia-telangiectasia variant' Class: http://www.orpha.net/ORDO/Orphanet_166433 Label(s): Reading seizures + 'Reading seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Reflex epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_398117 Label(s): Neonatal dermatomyositis + 'Neonatal dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_91547 Label(s): Relapsing fever + 'Relapsing fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_91546 Label(s): Lyme disease + 'Lyme disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' + 'Lyme disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_168632 Label(s): Generalized basaloid follicular hamartoma syndrome + 'Generalized basaloid follicular hamartoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' + 'Generalized basaloid follicular hamartoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_251902 Label(s): Atypical papilloma of choroid plexus + 'Atypical papilloma of choroid plexus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Choroid plexus tumor' Class: http://www.orpha.net/ORDO/Orphanet_1428 Label(s): OBSOLETE: Familial chondromalacia patellae + 'OBSOLETE: Familial chondromalacia patellae' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Patellar dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_1707 Label(s): Distal trisomy 15q + 'Distal trisomy 15q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '15q overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166424 Label(s): Thinking seizures + 'Thinking seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Reflex epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1705 Label(s): Distal trisomy 14q + 'Distal trisomy 14q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 14' + 'Distal trisomy 14q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic epicanthus' Class: http://www.orpha.net/ORDO/Orphanet_293825 Label(s): Congenital dyserythropoietic anemia type IV + 'Congenital dyserythropoietic anemia type IV' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_1702 Label(s): Non-distal trisomy 13q + 'Non-distal trisomy 13q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 13' Class: http://www.orpha.net/ORDO/Orphanet_293822 Label(s): MITF-related melanoma and renal cell carcinoma predisposition syndrome + 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168629 Label(s): Autosomal thrombocytopenia with normal platelets + 'Autosomal thrombocytopenia with normal platelets' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary thrombocytopenia with normal platelets' Class: http://www.orpha.net/ORDO/Orphanet_141103 Label(s): Nasal dermoid cyst + 'Nasal dermoid cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_99130 Label(s): Congenital partial agenesis of pericardium + 'Congenital partial agenesis of pericardium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pericardium anomaly' Class: http://www.orpha.net/ORDO/Orphanet_168624 Label(s): Familial scaphocephaly syndrome, McGillivray type + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial scaphocephaly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168621 Label(s): Dysplasia of head of femur, Meyer type + 'Dysplasia of head of femur, Meyer type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' Class: http://www.orpha.net/ORDO/Orphanet_448372 Label(s): OBSOLETE: X-linked acrogigantism due to Xq26 microduplication + 'OBSOLETE: X-linked acrogigantism due to Xq26 microduplication' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked acrogigantism' Class: http://www.orpha.net/ORDO/Orphanet_99135 Label(s): 6-phosphogluconate dehydrogenase deficiency + '6-phosphogluconate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' Class: http://www.orpha.net/ORDO/Orphanet_1437 Label(s): Ring chromosome 1 syndrome + 'Ring chromosome 1 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_1438 Label(s): Ring chromosome 10 syndrome + 'Ring chromosome 10 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ring chromosome 10 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ring chromosome 10 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_166415 Label(s): Audiogenic seizures + 'Audiogenic seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Reflex epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_63999 Label(s): IgG4-related mediastinitis + 'IgG4-related mediastinitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare respiratory disease' + 'IgG4-related mediastinitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_46059 Label(s): Lathosterolosis + 'Lathosterolosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lathosterolosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Lathosterolosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sterol biosynthesis disorder' + 'Lathosterolosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_293812 Label(s): Fixed drug eruption + 'Fixed drug eruption' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic dermatosis' Class: http://www.orpha.net/ORDO/Orphanet_53691 Label(s): Congenital cornea plana + 'Congenital cornea plana' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental defect of the eye' + 'Congenital cornea plana' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic developmental defect of the eye' + 'Congenital cornea plana' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hyperopia and astigmatism' + 'Congenital cornea plana' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic corneal disorder' + 'Congenital cornea plana' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare corneal disorder' Class: http://www.orpha.net/ORDO/Orphanet_141115 Label(s): Nasal ganglioglioma + 'Nasal ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' + 'Nasal ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ganglioglioma' Class: http://www.orpha.net/ORDO/Orphanet_168615 Label(s): Hereditary persistence of alpha-fetoprotein + 'Hereditary persistence of alpha-fetoprotein' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Biological anomaly without phenotypic characterization' Class: http://www.orpha.net/ORDO/Orphanet_324416 Label(s): Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome + 'Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_168612 Label(s): Congenital deficiency in alpha-fetoprotein + 'Congenital deficiency in alpha-fetoprotein' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Biological anomaly without phenotypic characterization' Class: http://www.orpha.net/ORDO/Orphanet_1440 Label(s): Ring chromosome 14 syndrome + 'Ring chromosome 14 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' + 'Ring chromosome 14 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_610 Label(s): Bethlem myopathy + 'Bethlem myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of collagen 6' + 'Bethlem myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' + 'Bethlem myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1442 Label(s): Ring chromosome 18 syndrome + 'Ring chromosome 18 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_119016 Label(s): BCR activator of RhoGEF and GTPase - 'BCR activator of RhoGEF and GTPase' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'BCR activator of RhoGEF and GTPase' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)' Class: http://www.orpha.net/ORDO/Orphanet_328269 Label(s): OBSOLETE: Rare bone disease with limb reduction defect + 'OBSOLETE: Rare bone disease with limb reduction defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_293807 Label(s): Ketamine-induced biliary dilatation + 'Ketamine-induced biliary dilatation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_402023 Label(s): Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) + 'Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_402020 Label(s): Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) + 'Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_141121 Label(s): Congenital subglottic stenosis + 'Congenital subglottic stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_168609 Label(s): Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Mitochondrial non-syndromic sensorineural deafness' Class: http://www.orpha.net/ORDO/Orphanet_168606 Label(s): Seborrhea-like dermatitis with psoriasiform elements + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic epidermal disorder' + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_141127 Label(s): Congenital tracheal stenosis + 'Congenital tracheal stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic tracheal anomaly' + 'Congenital tracheal stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tracheal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_163956 Label(s): X-linked intellectual disability, Nascimento type + 'X-linked intellectual disability, Nascimento type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Nascimento type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99142 Label(s): Microcephaly-cutis verticis gyrata-lymphedema syndrome + 'Microcephaly-cutis verticis gyrata-lymphedema syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cohen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168601 Label(s): Congenital enteropathy due to enteropeptidase deficiency + 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital intestinal disease due to an enzymatic defect' Class: http://www.orpha.net/ORDO/Orphanet_3307 Label(s): Tetrasomy 18p + 'Tetrasomy 18p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy/tetrasomy of the short arm of chromosome 18' Class: http://www.orpha.net/ORDO/Orphanet_451612 Label(s): Familial congenital nasolacrimal duct obstruction + 'Familial congenital nasolacrimal duct obstruction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lacrimal drainage system anomaly of genetic origin' + 'Familial congenital nasolacrimal duct obstruction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lacrimal drainage system anomaly' + 'Familial congenital nasolacrimal duct obstruction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' + 'Familial congenital nasolacrimal duct obstruction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1455 Label(s): Autosomal dominant coarctation of aorta + 'Autosomal dominant coarctation of aorta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aorta coarctation' Class: http://www.orpha.net/ORDO/Orphanet_1457 Label(s): Aorta coarctation + 'Aorta coarctation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_99147 Label(s): Acquired von Willebrand syndrome + 'Acquired von Willebrand syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_529665 Label(s): Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome + 'Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_402014 Label(s): Acute myeloid leukemia with t(6;9)(p23;q34) + 'Acute myeloid leukemia with t(6;9)(p23;q34)' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1101 Label(s): Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome + 'Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_448348 Label(s): OBSOLETE: X-linked acrogigantism due to a point mutation + 'OBSOLETE: X-linked acrogigantism due to a point mutation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked acrogigantism' Class: http://www.orpha.net/ORDO/Orphanet_451607 Label(s): Cutaneous pseudolymphoma + 'Cutaneous pseudolymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related disease' + 'Cutaneous pseudolymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_451602 Label(s): Primary cutaneous plasmacytosis + 'Primary cutaneous plasmacytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related disease' + 'Primary cutaneous plasmacytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_636 Label(s): Neurofibromatosis type 1 + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic eye tumor' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some http://www.orpha.net/ORDO/Orphanet_634518 + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'RASopathy' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cause of hypertension' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eye tumor' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurocutaneous syndrome with epilepsy' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_402003 Label(s): Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering + 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated focal palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_331176 Label(s): Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency + 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_141148 Label(s): Hemifacial myohyperplasia + 'Hemifacial myohyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Macroglossia' Class: http://www.orpha.net/ORDO/Orphanet_574918 Label(s): Predisposition to severe viral infection due to IRF7 deficiency + 'Predisposition to severe viral infection due to IRF7 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary immunodeficiency with predisposition to severe viral infection' Class: http://www.orpha.net/ORDO/Orphanet_568062 Label(s): PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis + 'PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary lymphedema with systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_642 Label(s): Hereditary sensory and autonomic neuropathy type 4 + 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_77261 Label(s): Gaucher disease type 3 + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculomotor apraxia' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral lipidosis with dementia' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary disease with avascular necrosis' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gaucher disease' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1478 Label(s): Interatrial communication + 'Interatrial communication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' + 'Interatrial communication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare atrial defect and interatrial communication' Class: http://www.orpha.net/ORDO/Orphanet_3004 Label(s): Mirror polydactyly-vertebral segmentation-limbs defects syndrome + 'Mirror polydactyly-vertebral segmentation-limbs defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_3006 Label(s): Pyridoxine-dependent epilepsy + 'Pyridoxine-dependent epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic neurotransmission anomaly with epilepsy' + 'Pyridoxine-dependent epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Pyridoxine-dependent epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pyridoxine metabolism' + 'Pyridoxine-dependent epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_568056 Label(s): Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome + 'Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' + 'Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary lymphedema with systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_650 Label(s): LCAT deficiency + 'LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypoalphalipoproteinemia' + 'LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' + 'LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_653 Label(s): Multiple endocrine neoplasia type 2 + 'Multiple endocrine neoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thyroid carcinoma' + 'Multiple endocrine neoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited digestive cancer-predisposing syndrome' + 'Multiple endocrine neoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple endocrine neoplasia' Class: http://www.orpha.net/ORDO/Orphanet_1488 Label(s): Cooper-Jabs syndrome + 'Cooper-Jabs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cooper-Jabs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_409936 Label(s): oligogenic - 'oligogenic' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409937 Label(s): semi-dominant - 'semi-dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_623789 Label(s): Body integrity dysphoria + 'Body integrity dysphoria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' Class: http://www.orpha.net/ORDO/Orphanet_661 Label(s): Congenital central hypoventilation syndrome + 'Congenital central hypoventilation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare autonomic nervous system disorder' + 'Congenital central hypoventilation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Congenital central hypoventilation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic autonomic nervous system disorder' + 'Congenital central hypoventilation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_662 Label(s): Yellow nail syndrome + 'Yellow nail syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + 'Yellow nail syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' + 'Yellow nail syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary lymphedema with systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_178540 Label(s): Primary cutaneous follicle center lymphoma + 'Primary cutaneous follicle center lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Indolent primary cutaneous B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_1499 Label(s): OBSOLETE: Cortada-Koussef-Matsumoto syndrome + 'OBSOLETE: Cortada-Koussef-Matsumoto syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2454 Label(s): OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome + 'OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial intestinal malrotation' Class: http://www.orpha.net/ORDO/Orphanet_497906 Label(s): Childhood-onset basal ganglia degeneration syndrome + 'Childhood-onset basal ganglia degeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Childhood-onset basal ganglia degeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Childhood-onset basal ganglia degeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with dystonia and other neurologic or systemic manifestation' Class: http://www.orpha.net/ORDO/Orphanet_1541 Label(s): Craniosynostosis, Boston type + 'Craniosynostosis, Boston type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_141174 Label(s): Mandibular arteriovenous malformation + 'Mandibular arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Facial arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_231426 Label(s): Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome + 'Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Regional variant of Guillain-Barré syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141179 Label(s): Non-involuting congenital hemangioma + 'Non-involuting congenital hemangioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_670 Label(s): PIBIDS syndrome + 'PIBIDS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_673 Label(s): Malaria + 'Malaria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_675 Label(s): Annular pancreas + 'Annular pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_677 Label(s): Pancreatoblastoma + 'Pancreatoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare epithelial tumor of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_678 Label(s): Papillon-Lefèvre syndrome + 'Papillon-Lefèvre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional neutrophil defect' + 'Papillon-Lefèvre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lysosomal-related organelles' + 'Papillon-Lefèvre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Papillon-Lefèvre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Papillon-Lefèvre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Papillon-Lefèvre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_141184 Label(s): Rapidly involuting congenital hemangioma + 'Rapidly involuting congenital hemangioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_99171 Label(s): Isolated congenital ectropion + 'Isolated congenital ectropion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital ectropion' Class: http://www.orpha.net/ORDO/Orphanet_178528 Label(s): Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma + 'Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive primary cutaneous T-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_163988 Label(s): OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type + 'OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xq21 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_682 Label(s): Hyperkalemic periodic paralysis + 'Hyperkalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic sodium channel defect' + 'Hyperkalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic periodic paralysis' + 'Hyperkalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Periodic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_683 Label(s): Progressive supranuclear palsy + 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Supranuclear eye movement disorder' + 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic frontotemporal degeneration with dementia' + 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal neurodegeneration with movement disorder' + 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal degeneration with dementia' Class: http://www.orpha.net/ORDO/Orphanet_178522 Label(s): Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma + 'Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Indolent primary cutaneous T-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_1317 Label(s): CAMFAK syndrome + 'CAMFAK syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'COFS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1117 Label(s): Aplasia cutis-myopia syndrome + 'Aplasia cutis-myopia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed dermis disorder' + 'Aplasia cutis-myopia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Aplasia cutis-myopia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Aplasia cutis-myopia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic mixed dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_404437 Label(s): Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_284417 Label(s): Phosphoserine aminotransferase deficiency, infantile/juvenile form + 'Phosphoserine aminotransferase deficiency, infantile/juvenile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serine biosynthesis pathway deficiency, infantile/juvenile form' Class: http://www.orpha.net/ORDO/Orphanet_306597 Label(s): OBSOLETE: X-linked Opitz G/BBB syndrome + 'OBSOLETE: X-linked Opitz G/BBB syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Opitz GBBB syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141199 Label(s): Cerebrofacial arteriovenous metameric syndrome type 3 + 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebrofacial arteriovenous metameric syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178517 Label(s): Localized pagetoid reticulosis + 'Localized pagetoid reticulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mycosis fungoides and variants' Class: http://www.orpha.net/ORDO/Orphanet_269510 Label(s): Congenital non-communicating hydrocephalus + 'Congenital non-communicating hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_178512 Label(s): Folliculotropic mycosis fungoides + 'Folliculotropic mycosis fungoides' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mycosis fungoides and variants' Class: http://www.orpha.net/ORDO/Orphanet_391497 Label(s): Juvenile myasthenia gravis + 'Juvenile myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myasthenia gravis' Class: http://www.orpha.net/ORDO/Orphanet_352298 Label(s): OBSOLETE: Genetic muscular channelopathy + 'OBSOLETE: Genetic muscular channelopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic neurological muscular channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_391490 Label(s): Adult-onset myasthenia gravis + 'Adult-onset myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myasthenia gravis' Class: http://www.orpha.net/ORDO/Orphanet_54028 Label(s): Plummer-Vinson syndrome + 'Plummer-Vinson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' + 'Plummer-Vinson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare acquired deficiency anemia' Class: http://www.orpha.net/ORDO/Orphanet_178509 Label(s): Perry syndrome + 'Perry syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Perry syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_1555 Label(s): Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome + 'Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' + 'Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' + 'Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_178506 Label(s): Brain calcification, Rajab type + 'Brain calcification, Rajab type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neurological disorder' + 'Brain calcification, Rajab type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_178503 Label(s): Dursun syndrome + 'Dursun syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1557 Label(s): Cutis verticis gyrata-intellectual disability syndrome + 'Cutis verticis gyrata-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Primary non-essential cutis verticis gyrata' Class: http://www.orpha.net/ORDO/Orphanet_861 Label(s): Treacher-Collins syndrome + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic outer canthal malposition' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic eyelid coloboma' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mandibulofacial dysostosis' + 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with branchial archs anomalies' Class: http://www.orpha.net/ORDO/Orphanet_69061 Label(s): Idiopathic steroid-sensitive nephrotic syndrome + 'Idiopathic steroid-sensitive nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306577 Label(s): Sodium channelopathy-related small fiber neuropathy + 'Sodium channelopathy-related small fiber neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_306574 Label(s): OBSOLETE: Methotrexate dose selection + 'OBSOLETE: Methotrexate dose selection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Methotrexate dose selection' Class: http://www.orpha.net/ORDO/Orphanet_424099 Label(s): Colobomatous microphthalmia-rhizomelic dysplasia syndrome + 'Colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_247573 Label(s): Adult-onset citrullinemia type I + 'Adult-onset citrullinemia type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Citrullinemia type I' Class: http://www.orpha.net/ORDO/Orphanet_391474 Label(s): Frontorhiny + 'Frontorhiny' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' + 'Frontorhiny' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic facial cleft' + 'Frontorhiny' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Median facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_3324 Label(s): Familial thrombomodulin anomalies + 'Familial thrombomodulin anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_79319 Label(s): MPI-CDG + 'MPI-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with intestinal involvement' + 'MPI-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'MPI-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'MPI-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' Class: http://www.orpha.net/ORDO/Orphanet_443304 Label(s): OBSOLETE: HIV-related oropharyngeal cancer + 'OBSOLETE: HIV-related oropharyngeal cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_306561 Label(s): OBSOLETE: Autosomal dominant childhood-onset cortical cataract + 'OBSOLETE: Autosomal dominant childhood-onset cortical cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset partial cataract' Class: http://www.orpha.net/ORDO/Orphanet_541507 Label(s): Anomalous origin of coronary artery from the pulmonary artery + 'Anomalous origin of coronary artery from the pulmonary artery' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Coronary artery congenital malformation' Class: http://www.orpha.net/ORDO/Orphanet_363999 Label(s): Non-immune hydrops fetalis + 'Non-immune hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hydrops fetalis' + 'Non-immune hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_424080 Label(s): Osteoclastic giant cell tumor of pancreas + 'Osteoclastic giant cell tumor of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_480701 Label(s): Facial diplegia with paresthesias + 'Facial diplegia with paresthesias' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Regional variant of Guillain-Barré syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98123 Label(s): OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect + 'OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Juvenile myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_98122 Label(s): OBSOLETE: Channelopathy due to a neuronal glycine receptor defect + 'OBSOLETE: Channelopathy due to a neuronal glycine receptor defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary hyperekplexia' Class: http://www.orpha.net/ORDO/Orphanet_98120 Label(s): OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly + 'OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Bartter syndrome type 4' Class: http://www.orpha.net/ORDO/Orphanet_98754 Label(s): Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 + 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Prader-Willi syndrome' + 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_1568 Label(s): X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome + 'X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a Dandy-Walker malformation as a major feature' + 'X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_77292 Label(s): Infantile neurovisceral acid sphingomyelinase deficiency + 'Infantile neurovisceral acid sphingomyelinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis with epilepsy' + 'Infantile neurovisceral acid sphingomyelinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Infantile neurovisceral acid sphingomyelinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Infantile neurovisceral acid sphingomyelinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acid sphingomyelinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_391457 Label(s): HSD10 disease, neonatal type + 'HSD10 disease, neonatal type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'HSD10 disease' Class: http://www.orpha.net/ORDO/Orphanet_872 Label(s): OBSOLETE: Disorder in the hormonal synthesis with or without goiter + 'OBSOLETE: Disorder in the hormonal synthesis with or without goiter' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare thyroid disease' Class: http://www.orpha.net/ORDO/Orphanet_424073 Label(s): Serous cystadenocarcinoma of pancreas + 'Serous cystadenocarcinoma of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_98119 Label(s): OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly + 'OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Bartter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98117 Label(s): OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly + 'OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dent disease type 1' Class: http://www.orpha.net/ORDO/Orphanet_79327 Label(s): ALG1-CDG + 'ALG1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'ALG1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'ALG1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98114 Label(s): OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly + 'OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Best vitelliform macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_876 Label(s): Yolk sac tumor + 'Yolk sac tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal non-dysgerminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_306547 Label(s): Porencephaly-microcephaly-bilateral congenital cataract syndrome + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98764 Label(s): Spinocerebellar ataxia type 27 + 'Spinocerebellar ataxia type 27' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_306542 Label(s): Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_424065 Label(s): Solid pseudopapillary carcinoma of pancreas + 'Solid pseudopapillary carcinoma of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_508488 Label(s): 8q24.3 microdeletion syndrome + '8q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + '8q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '8q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '8q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + '8q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 8' + '8q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + '8q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_555877 Label(s): FLNA-related X-linked myxomatous valvular dysplasia + 'FLNA-related X-linked myxomatous valvular dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac malformation' + 'FLNA-related X-linked myxomatous valvular dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atrioventricular valve anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401996 Label(s): Karyomegalic interstitial nephritis + 'Karyomegalic interstitial nephritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Karyomegalic interstitial nephritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' Class: http://www.orpha.net/ORDO/Orphanet_477697 Label(s): OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome + 'OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial platelet disorder with associated myeloid malignancy' Class: http://www.orpha.net/ORDO/Orphanet_98772 Label(s): Spinocerebellar ataxia type 19/22 + 'Spinocerebellar ataxia type 19/22' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' + 'Spinocerebellar ataxia type 19/22' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_370334 Label(s): Extraskeletal Ewing sarcoma + 'Extraskeletal Ewing sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Extraskeletal Ewing sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_117738 Label(s): acyl-CoA oxidase 1 + 'acyl-CoA oxidase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_631248 Class: http://www.orpha.net/ORDO/Orphanet_424058 Label(s): Intraductal papillary mucinous carcinoma of pancreas + 'Intraductal papillary mucinous carcinoma of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_424053 Label(s): Mucinous cystadenocarcinoma of the pancreas + 'Mucinous cystadenocarcinoma of the pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_447740 Label(s): Susceptibility to localized juvenile periodontitis + 'Susceptibility to localized juvenile periodontitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional neutrophil defect' Class: http://www.orpha.net/ORDO/Orphanet_508476 Label(s): Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome + 'Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_377556 Label(s): phosphatidylinositol-5-phosphate 4-kinase type 2 alpha - 'phosphatidylinositol-5-phosphate 4-kinase type 2 alpha' SubClassOf 'major susceptibility factor in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'phosphatidylinositol-5-phosphate 4-kinase type 2 alpha' SubClassOf 'major susceptibility factor in' some 'B-lymphoblastic leukemia/lymphoma with hyperdiploidy' Class: http://www.orpha.net/ORDO/Orphanet_118975 Label(s): Bardet-Biedl syndrome 1 + 'Bardet-Biedl syndrome 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_1573 Label(s): Hypotrichosis with juvenile macular degeneration + 'Hypotrichosis with juvenile macular degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hypotrichosis with juvenile macular degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_401986 Label(s): 1p31p32 microdeletion syndrome + '1p31p32 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 1' + '1p31p32 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '1p31p32 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_306527 Label(s): Isolated hereditary congenital facial paralysis + 'Isolated hereditary congenital facial paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial nerve and nuclear aplasia' + 'Isolated hereditary congenital facial paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paralytic facial malformation' Class: http://www.orpha.net/ORDO/Orphanet_254712 Label(s): Familial sinus histiocytosis with massive lymphadenopathy + 'Familial sinus histiocytosis with massive lymphadenopathy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'H syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306522 Label(s): OBSOLETE: Genetic primary hypomagnesemia with normocalciuria + 'OBSOLETE: Genetic primary hypomagnesemia with normocalciuria' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_1577 Label(s): OBSOLETE: Infantile thalamic degeneration + 'OBSOLETE: Infantile thalamic degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Symmetrical thalamic calcifications' Class: http://www.orpha.net/ORDO/Orphanet_1578 Label(s): Pterin-4 alpha-carbinolamine dehydratase deficiency + 'Pterin-4 alpha-carbinolamine dehydratase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperphenylalaninemia due to tetrahydrobiopterin deficiency' Class: http://www.orpha.net/ORDO/Orphanet_391428 Label(s): HSD10 disease, infantile type + 'HSD10 disease, infantile type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'HSD10 disease' Class: http://www.orpha.net/ORDO/Orphanet_424046 Label(s): Acinar cell carcinoma of pancreas + 'Acinar cell carcinoma of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_2474 Label(s): OBSOLETE: McLain-Dekaban syndrome + 'OBSOLETE: McLain-Dekaban syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_499004 Label(s): Tuberculous meningitis + 'Tuberculous meningitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' + 'Tuberculous meningitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease of the nervous system' Class: http://www.orpha.net/ORDO/Orphanet_398043 Label(s): Malignant tumor of penis + 'Malignant tumor of penis' SubClassOf http://www.orpha.net/ORDO/Orphanet_626609 Class: http://www.orpha.net/ORDO/Orphanet_158687 Label(s): Lethal acantholytic erosive disorder + 'Lethal acantholytic erosive disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' + 'Lethal acantholytic erosive disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_158684 Label(s): Epidermolysis bullosa simplex with pyloric atresia + 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex with extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_447757 Label(s): Autosomal dominant spastic paraplegia type 9B + 'Autosomal dominant spastic paraplegia type 9B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal dominant spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_158681 Label(s): Epidermolysis bullosa simplex with circinate migratory erythema + 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex without extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_306519 Label(s): OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria + 'OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_3336 Label(s): TomÚ-Brunet-Fardeau syndrome + 'TomÚ-Brunet-Fardeau syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'ATP13A2-related juvenile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_401973 Label(s): MEND syndrome + 'MEND syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'MEND syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'MEND syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sterol biosynthesis disorder' Class: http://www.orpha.net/ORDO/Orphanet_98795 Label(s): Angelman syndrome due to paternal uniparental disomy of chromosome 15 + 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Angelman syndrome' + 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_306511 Label(s): Autosomal recessive spastic paraplegia type 48 + 'Autosomal recessive spastic paraplegia type 48' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Autosomal recessive spastic paraplegia type 48' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal dominant spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 48' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 48' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease' Class: http://www.orpha.net/ORDO/Orphanet_424039 Label(s): Squamous cell carcinoma of pancreas + 'Squamous cell carcinoma of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_391417 Label(s): HSD10 disease + 'HSD10 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'HSD10 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral organic aciduria' + 'HSD10 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_447760 Label(s): Autosomal recessive spastic paraplegia type 9B + 'Autosomal recessive spastic paraplegia type 9B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive spastic paraplegia type 9B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_391411 Label(s): Atypical juvenile parkinsonism + 'Atypical juvenile parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Atypical juvenile parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_158676 Label(s): Localized dystrophic epidermolysis bullosa, nails only + 'Localized dystrophic epidermolysis bullosa, nails only' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_308712 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glycogen branching enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_398058 Label(s): Squamous cell carcinoma of the penis + 'Squamous cell carcinoma of the penis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant tumor of penis' Class: http://www.orpha.net/ORDO/Orphanet_158673 Label(s): Localized dystrophic epidermolysis bullosa, acral form + 'Localized dystrophic epidermolysis bullosa, acral form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_409968 Label(s): birth prevalence - 'birth prevalence' SubClassOf 'prevalence' Class: http://www.orpha.net/ORDO/Orphanet_79347 Label(s): Chondrodysplasia punctata, Toriello type + 'Chondrodysplasia punctata, Toriello type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-rhizomelic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_36397 Label(s): Adiposis dolorosa + 'Adiposis dolorosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_401964 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_276198 Label(s): Spinocerebellar ataxia type 36 + 'Spinocerebellar ataxia type 36' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_1133 Label(s): AREDYLD syndrome + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_306504 Label(s): Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome + 'Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Junctional epidermolysis bullosa' + 'Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic interstitial lung disease' + 'Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' Class: http://www.orpha.net/ORDO/Orphanet_276193 Label(s): Spinocerebellar ataxia type 35 + 'Spinocerebellar ataxia type 35' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_391408 Label(s): Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare diabetes mellitus type 2' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_424027 Label(s): Progressive myoclonic epilepsy type 8 + 'Progressive myoclonic epilepsy type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Progressive myoclonic epilepsy type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1136 Label(s): Arnold-Chiari malformation type II + 'Arnold-Chiari malformation type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_158668 Label(s): Ectodermal dysplasia-skin fragility syndrome + 'Ectodermal dysplasia-skin fragility syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_158665 Label(s): OBSOLETE: Basal epidermolysis bullosa simplex + 'OBSOLETE: Basal epidermolysis bullosa simplex' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Epidermolysis bullosa simplex' Class: http://www.orpha.net/ORDO/Orphanet_401959 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_36387 Label(s): Generalized epilepsy with febrile seizures-plus + 'Generalized epilepsy with febrile seizures-plus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' + 'Generalized epilepsy with febrile seizures-plus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect' + 'Generalized epilepsy with febrile seizures-plus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Generalized epilepsy with febrile seizures-plus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' + 'Generalized epilepsy with febrile seizures-plus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_36386 Label(s): Hereditary sensory and autonomic neuropathy type 1 + 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' + 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_36383 Label(s): COL4A1-related familial vascular leukoencephalopathy + 'COL4A1-related familial vascular leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy' Class: http://www.orpha.net/ORDO/Orphanet_401953 Label(s): Episodic ataxia with slurred speech + 'Episodic ataxia with slurred speech' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary episodic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_220448 Label(s): Macrothrombocytopenia with mitral valve insufficiency + 'Macrothrombocytopenia with mitral valve insufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_276183 Label(s): Spinocerebellar ataxia type 32 + 'Spinocerebellar ataxia type 32' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Spinocerebellar ataxia type 32' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_1802 Label(s): Ghosal hematodiaphyseal dysplasia + 'Ghosal hematodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_424019 Label(s): Squamous cell carcinoma of the anal canal + 'Squamous cell carcinoma of the anal canal' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of the anal canal' Class: http://www.orpha.net/ORDO/Orphanet_247834 Label(s): Occult macular dystrophy + 'Occult macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_424016 Label(s): Adenocarcinoma of the anal canal + 'Adenocarcinoma of the anal canal' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of the anal canal' Class: http://www.orpha.net/ORDO/Orphanet_447784 Label(s): Mitochondrial pyruvate carrier deficiency + 'Mitochondrial pyruvate carrier deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Mitochondrial pyruvate carrier deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_264675 Label(s): Hereditary pulmonary alveolar proteinosis + 'Hereditary pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Quantitative and/or qualitative congenital phagocyte defect' + 'Hereditary pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' Class: http://www.orpha.net/ORDO/Orphanet_401948 Label(s): Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of branched-chain amino acid metabolism' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gluconeogenesis disorder' Class: http://www.orpha.net/ORDO/Orphanet_401945 Label(s): Moyamoya disease with early-onset achalasia + 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic gastro-esophageal disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_401942 Label(s): Familial median cleft of the upper and lower lips + 'Familial median cleft of the upper and lower lips' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic facial cleft' + 'Familial median cleft of the upper and lower lips' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Median facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_597746 Label(s): Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome + 'Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'KAT6B-related multiple congenital anomalies syndrome' + 'Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_276174 Label(s): Idiopathic recurrent stupor + 'Idiopathic recurrent stupor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_597743 Label(s): SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome + 'SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_424002 Label(s): Squamous cell carcinoma of the rectum + 'Squamous cell carcinoma of the rectum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare epithelial tumor of rectum' Class: http://www.orpha.net/ORDO/Orphanet_447792 Label(s): OBSOLETE: Hemochromatosis type 5 + 'OBSOLETE: Hemochromatosis type 5' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hereditary hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_264688 Label(s): Congenital chylothorax + 'Congenital chylothorax' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' Class: http://www.orpha.net/ORDO/Orphanet_171889 Label(s): Myopathy with hexagonally cross-linked tubular arrays + 'Myopathy with hexagonally cross-linked tubular arrays' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_251899 Label(s): Choroid plexus carcinoma + 'Choroid plexus carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Choroid plexus tumor' Class: http://www.orpha.net/ORDO/Orphanet_401935 Label(s): 14q24.1q24.3 microdeletion syndrome + '14q24.1q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 14' + '14q24.1q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '14q24.1q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_391372 Label(s): Intellectual disability-severe speech delay-mild dysmorphism syndrome + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_488613 Label(s): Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome + 'Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' + 'Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cortical involvement' Class: http://www.orpha.net/ORDO/Orphanet_251891 Label(s): OBSOLETE: Atypical teratoid/rhabdoid tumor + 'OBSOLETE: Atypical teratoid/rhabdoid tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical teratoid rhabdoid tumor' Class: http://www.orpha.net/ORDO/Orphanet_597733 Label(s): Oculocutaneous albinism type 8 + 'Oculocutaneous albinism type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism' Class: http://www.orpha.net/ORDO/Orphanet_563589 Label(s): Seronegative autoimmune hepatitis + 'Seronegative autoimmune hepatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune hepatitis' Class: http://www.orpha.net/ORDO/Orphanet_395106 Label(s): STIP1 homology and U-box containing protein 1 + 'STIP1 homology and U-box containing protein 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_631103 Class: http://www.orpha.net/ORDO/Orphanet_488618 Label(s): Transketolase deficiency + 'Transketolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Transketolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Transketolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pentose phosphate metabolism' + 'Transketolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Transketolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Transketolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_1695 Label(s): Non-distal trisomy 10q + 'Non-distal trisomy 10q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Non-distal trisomy 10q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 10' Class: http://www.orpha.net/ORDO/Orphanet_563581 Label(s): Autoimmune hepatitis type 2 + 'Autoimmune hepatitis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune hepatitis' Class: http://www.orpha.net/ORDO/Orphanet_1692 Label(s): Mosaic trisomy 1 + 'Mosaic trisomy 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_397709 Label(s): Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_264691 Label(s): Isolated pulmonary capillaritis + 'Isolated pulmonary capillaritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' Class: http://www.orpha.net/ORDO/Orphanet_398088 Label(s): Hereditary cryohydrocytosis with normal stomatin + 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_398147 Label(s): Persistent idiopathic facial pain + 'Persistent idiopathic facial pain' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_238646 Label(s): Congenital primary megaureter, obstructed form + 'Congenital primary megaureter, obstructed form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital primary megaureter' Class: http://www.orpha.net/ORDO/Orphanet_398097 Label(s): Neonatal antiphospholipid syndrome + 'Neonatal antiphospholipid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_171876 Label(s): Generalized pseudohypoaldosteronism type 1 + 'Generalized pseudohypoaldosteronism type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoaldosteronism type 1' Class: http://www.orpha.net/ORDO/Orphanet_401923 Label(s): 9q31.1q31.3 microdeletion syndrome + '9q31.1q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '9q31.1q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the long arm of chromosome 9' + '9q31.1q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_251883 Label(s): Medulloepithelioma of the central nervous system + 'Medulloepithelioma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central nervous system embryonal tumor' Class: http://www.orpha.net/ORDO/Orphanet_251880 Label(s): Ependymoblastoma + 'Ependymoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central nervous system embryonal tumor' Class: http://www.orpha.net/ORDO/Orphanet_34149 Label(s): Autosomal dominant tubulointerstitial kidney disease + 'Autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' Class: http://www.orpha.net/ORDO/Orphanet_1112 Label(s): Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome + 'Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_563576 Label(s): Autoimmune hepatitis type 1 + 'Autoimmune hepatitis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune hepatitis' Class: http://www.orpha.net/ORDO/Orphanet_1686 Label(s): Cardiac diverticulum + 'Cardiac diverticulum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare congenital non-syndromic heart malformation' Class: http://www.orpha.net/ORDO/Orphanet_1685 Label(s): Distomatosis + 'Distomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_1683 Label(s): Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome + 'Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Lymphedema-distichiasis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1681 Label(s): Diprosopus + 'Diprosopus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171866 Label(s): Spondyloepimetaphyseal dysplasia, aggrecan type + 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggrecan-related bone disorder' + 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_251877 Label(s): Ganglioneuroblastoma + 'Ganglioneuroblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central nervous system embryonal tumor' Class: http://www.orpha.net/ORDO/Orphanet_98 Label(s): Autosomal recessive spastic ataxia of Charlevoix-Saguenay + 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive spastic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_276145 Label(s): Malignant epithelial tumor of salivary glands + 'Malignant epithelial tumor of salivary glands' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_171860 Label(s): Intellectual disability-cataracts-kyphosis syndrome - 'Intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'disorder' - 'Intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'disease' + 'Intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'obsolete disorder' + 'Intellectual disability-cataracts-kyphosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'SRD5A3-CDG' Class: http://www.orpha.net/ORDO/Orphanet_90 Label(s): Argininemia + 'Argininemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of urea cycle metabolism and ammonia detoxification' Class: http://www.orpha.net/ORDO/Orphanet_1678 Label(s): Dincsoy-Salih-Patel syndrome + 'Dincsoy-Salih-Patel syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_1677 Label(s): Familial idiopathic dilatation of the right atrium + 'Familial idiopathic dilatation of the right atrium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare atrial defect and interatrial communication' + 'Familial idiopathic dilatation of the right atrium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac malformation' Class: http://www.orpha.net/ORDO/Orphanet_1676 Label(s): Idiopathic pulmonary artery dilatation + 'Idiopathic pulmonary artery dilatation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary artery or pulmonary branch anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1674 Label(s): Digitorenocerebral syndrome + 'Digitorenocerebral syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'DOORS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_398079 Label(s): SIM1-related Prader-Willi-like syndrome + 'SIM1-related Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Prader-Willi-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1672 Label(s): Diencephalic syndrome + 'Diencephalic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypothalamic or pituitary disease' Class: http://www.orpha.net/ORDO/Orphanet_1671 Label(s): Split cord malformation type I + 'Split cord malformation type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Split cord malformation' Class: http://www.orpha.net/ORDO/Orphanet_1670 Label(s): Chronic diarrhea with villous atrophy + 'Chronic diarrhea with villous atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intractable diarrhea of infancy' + 'Chronic diarrhea with villous atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intractable diarrhea of infancy' + 'Chronic diarrhea with villous atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_544469 Label(s): PRUNE1-related neurological syndrome + 'PRUNE1-related neurological syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PRUNE1-related neurological syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PRUNE1-related neurological syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'PRUNE1-related neurological syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_64686 Label(s): Tolosa-Hunt syndrome + 'Tolosa-Hunt syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cranial nerve involvement' + 'Tolosa-Hunt syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cranial nerve involvement' Class: http://www.orpha.net/ORDO/Orphanet_168598 Label(s): Brain demyelination due to methionine adenosyltransferase deficiency + 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of methionine cycle and sulfur amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_238621 Label(s): Ileal pouch anal anastomosis related faecal incontinence + 'Ileal pouch anal anastomosis related faecal incontinence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_168593 Label(s): Sudden infant death-dysgenesis of the testes syndrome + 'Sudden infant death-dysgenesis of the testes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Sudden infant death-dysgenesis of the testes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Sudden infant death-dysgenesis of the testes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_88 Label(s): Idiopathic aplastic anemia + 'Idiopathic aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare acquired aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_87 Label(s): Apert syndrome + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniofacial anomaly with cataract' + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniostenosis with strabismus' + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with bone disease' Class: http://www.orpha.net/ORDO/Orphanet_251863 Label(s): Desmoplastic/nodular medulloblastoma + 'Desmoplastic/nodular medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Medulloblastoma' Class: http://www.orpha.net/ORDO/Orphanet_84 Label(s): Fanconi anemia + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hematological disorder with renal involvement' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_83 Label(s): Antley-Bixler syndrome + 'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_306669 Label(s): Hemiparkinsonism-hemiatrophy syndrome + 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_80 Label(s): Antiphospholipid syndrome + 'Antiphospholipid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Antiphospholipid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Antiphospholipid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to an acquired coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_436151 Label(s): Intellectual disability-expressive aphasia-facial dysmorphism syndrome + 'Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1666 Label(s): Dextrocardia + 'Dextrocardia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heterotaxia' Class: http://www.orpha.net/ORDO/Orphanet_1665 Label(s): Sporadic fetal brain disruption sequence + 'Sporadic fetal brain disruption sequence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_1664 Label(s): OBSOLETE: Embryonary disorganization syndrome + 'OBSOLETE: Embryonary disorganization syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_398069 Label(s): MAGEL2-related Prader-Willi-like syndrome + 'MAGEL2-related Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Prader-Willi-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1662 Label(s): Restrictive dermopathy + 'Restrictive dermopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Restrictive dermopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Restrictive dermopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Restrictive dermopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with premature aging' Class: http://www.orpha.net/ORDO/Orphanet_91498 Label(s): Familial congenital palsy of trochlear nerve + 'Familial congenital palsy of trochlear nerve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare trochlear nerve disorder' Class: http://www.orpha.net/ORDO/Orphanet_1660 Label(s): Dermoodontodysplasia + 'Dermoodontodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Dermoodontodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Dermoodontodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_91496 Label(s): Snowflake vitreoretinal degeneration + 'Snowflake vitreoretinal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Snowflake vitreoretinal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_91495 Label(s): Persistent hyperplastic primary vitreous + 'Persistent hyperplastic primary vitreous' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated vitreoretinopathy' + 'Persistent hyperplastic primary vitreous' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Persistent hyperplastic primary vitreous' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_398063 Label(s): Refractory celiac disease + 'Refractory celiac disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_91491 Label(s): Congenital ectropion uveae + 'Congenital ectropion uveae' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental anomaly without extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_238613 Label(s): Beckwith-Wiedemann syndrome due to NSD1 mutation + 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beckwith-Wiedemann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251858 Label(s): Medulloblastoma with extensive nodularity + 'Medulloblastoma with extensive nodularity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Medulloblastoma' Class: http://www.orpha.net/ORDO/Orphanet_168583 Label(s): Hereditary North American Indian childhood cirrhosis + 'Hereditary North American Indian childhood cirrhosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive familial intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_79 Label(s): Congenital alpha2-antiplasmin deficiency + 'Congenital alpha2-antiplasmin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Congenital alpha2-antiplasmin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serpinopathy with loss of serpin function' Class: http://www.orpha.net/ORDO/Orphanet_78 Label(s): Ankylostomiasis + 'Ankylostomiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_77 Label(s): OBSOLETE: Aniridia + 'OBSOLETE: Aniridia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anterior segment developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_74 Label(s): Angiostrongyliasis + 'Angiostrongyliasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_73 Label(s): Gorham-Stout disease + 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric rheumatologic disease' + 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital vascular bone syndrome' + 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare lymphatic malformation' + 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_72 Label(s): Angelman syndrome + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_71 Label(s): Chylomicron retention disease + 'Chylomicron retention disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypobetalipoproteinemia' + 'Chylomicron retention disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal disease due to fat malabsorption' + 'Chylomicron retention disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease due to fat malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_70 Label(s): Proximal spinal muscular atrophy + 'Proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_1658 Label(s): Absence of fingerprints-congenital milia syndrome + 'Absence of fingerprints-congenital milia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Absence of fingerprints-congenital milia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' Class: http://www.orpha.net/ORDO/Orphanet_1655 Label(s): Müllerian derivatives-lymphangiectasia-polydactyly syndrome + 'Müllerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Müllerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Müllerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Müllerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_1654 Label(s): OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome + 'OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuronal intestinal pseudoobstruction' Class: http://www.orpha.net/ORDO/Orphanet_443811 Label(s): PGM3-CDG + 'PGM3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'PGM3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'PGM3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1651 Label(s): OBSOLETE: Dennis-Cohen syndrome + 'OBSOLETE: Dennis-Cohen syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98587 Label(s): OBSOLETE: Palpebral lentiginosis + 'OBSOLETE: Palpebral lentiginosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_398053 Label(s): Adenocarcinoma of the penis + 'Adenocarcinoma of the penis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant tumor of penis' Class: http://www.orpha.net/ORDO/Orphanet_91483 Label(s): Rieger anomaly + 'Rieger anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental anomaly without extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_168577 Label(s): Hereditary cryohydrocytosis with reduced stomatin + 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary stomatocytosis' + 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171836 Label(s): Amelogenesis imperfecta-gingival hyperplasia syndrome + 'Amelogenesis imperfecta-gingival hyperplasia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Enamel-renal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1335 Label(s): Pentalogy of Cantrell + 'Pentalogy of Cantrell' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Pentalogy of Cantrell' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Pentalogy of Cantrell' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Pentalogy of Cantrell' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_67 Label(s): Amoebiasis due to Entamoeba histolytica + 'Amoebiasis due to Entamoeba histolytica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_93688 Label(s): OBSOLETE: Non-idiopathic juvenile arthritis + 'OBSOLETE: Non-idiopathic juvenile arthritis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Reactive arthritis' Class: http://www.orpha.net/ORDO/Orphanet_65 Label(s): Leber congenital amaurosis + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in the RPGRIP gene' + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hyperopia' + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_64 Label(s): Alström syndrome + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare diabetes mellitus type 2' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Alström syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_63 Label(s): Alport syndrome + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lens shape anomaly' + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal disease with cataract' + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Collagen-related glomerular basement membrane disease' + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_1647 Label(s): Oculocerebrocutaneous syndrome + 'Oculocerebrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Oculocerebrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206659 Label(s): OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly + 'OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Qualitative or quantitative defects of collagen 6' Class: http://www.orpha.net/ORDO/Orphanet_443804 Label(s): Focal stiff limb syndrome + 'Focal stiff limb syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stiff person spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_199296 Label(s): Congenital isolated ACTH deficiency + 'Congenital isolated ACTH deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_168569 Label(s): H syndrome + 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare diabetes mellitus type 1' + 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_171829 Label(s): 6q16 microdeletion syndrome + '6q16 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Prader-Willi-like syndrome' + '6q16 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 6' Class: http://www.orpha.net/ORDO/Orphanet_168566 Label(s): Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 + 'Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_199299 Label(s): Late-onset isolated ACTH deficiency + 'Late-onset isolated ACTH deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_168563 Label(s): 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome + '46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + '46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + '46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' Class: http://www.orpha.net/ORDO/Orphanet_59 Label(s): Allan-Herndon-Dudley syndrome + 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome of reduced sensitivity to thyroid hormone' + 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex X-linked spastic paraplegia' + 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_58 Label(s): Alexander disease + 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_57 Label(s): Glycogen storage disease due to aldolase A deficiency + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_56 Label(s): Alkaptonuria + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with skin involvement' + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of tyrosine metabolism' + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_54 Label(s): X-linked recessive ocular albinism + 'X-linked recessive ocular albinism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ocular albinism' Class: http://www.orpha.net/ORDO/Orphanet_53 Label(s): Albers-Schönberg osteopetrosis + 'Albers-Schönberg osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' + 'Albers-Schönberg osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with optic nerve compression' Class: http://www.orpha.net/ORDO/Orphanet_52 Label(s): Alagille syndrome + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic visceral malformation' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic biliary tract disease' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_51 Label(s): Aicardi-Goutières syndrome + 'Aicardi-Goutières syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune dysregulation disease with immunodeficiency' + 'Aicardi-Goutières syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'Aicardi-Goutières syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'Aicardi-Goutières syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' + 'Aicardi-Goutières syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Aicardi-Goutières syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_93672 Label(s): Juvenile dermatomyositis + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile idiopathic inflammatory myopathy' + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic disease with skin involvement' + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_1636 Label(s): Distal monosomy 7q36 + 'Distal monosomy 7q36' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_101109 Label(s): Spinocerebellar ataxia type 28 + 'Spinocerebellar ataxia type 28' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' + 'Spinocerebellar ataxia type 28' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_1825 Label(s): Epiphyseal dysplasia-hearing loss-dysmorphism syndrome + 'Epiphyseal dysplasia-hearing loss-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Epiphyseal dysplasia-hearing loss-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_478042 Label(s): Combined oxidative phosphorylation defect type 30 + 'Combined oxidative phosphorylation defect type 30' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Combined oxidative phosphorylation defect type 30' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_168555 Label(s): Spondylometaphyseal dysplasia, A4 type + 'Spondylometaphyseal dysplasia, A4 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_49 Label(s): Penile agenesis + 'Penile agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of male' + 'Penile agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_48 Label(s): Congenital bilateral absence of vas deferens + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of male' + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic urogenital tract malformation' + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to obstructive azoospermia of genetic origin' + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to obstructive azoospermia' Class: http://www.orpha.net/ORDO/Orphanet_47 Label(s): X-linked agammaglobulinemia + 'X-linked agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated agammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_46 Label(s): Adenylosuccinate lyase deficiency + 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with epilepsy' + 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_44 Label(s): Neonatal adrenoleukodystrophy + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisome biogenesis disorder' + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic chronic primary adrenal insufficiency' + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal disease with epilepsy' + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_43 Label(s): X-linked adrenoleukodystrophy + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal disease with epilepsy' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with dementia' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal beta-oxidation disorder' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_42 Label(s): Medium chain acyl-CoA dehydrogenase deficiency + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_41 Label(s): Dyschromatosis symmetrica hereditaria + 'Dyschromatosis symmetrica hereditaria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Dyschromatosis symmetrica hereditaria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_40 Label(s): Acromesomelic dysplasia, Maroteaux type + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1627 Label(s): Deletion 5q35 + 'Deletion 5q35' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 5' Class: http://www.orpha.net/ORDO/Orphanet_167635 Label(s): Scleromyxedema + 'Scleromyxedema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_1620 Label(s): Distal monosomy 3p + 'Distal monosomy 3p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 3' + 'Distal monosomy 3p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Blepharophimosis-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_221139 Label(s): Combined immunodeficiency with faciooculoskeletal anomalies + 'Combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immuno-osseous dysplasia' + 'Combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_611223 Label(s): EN1-related dorsoventral syndrome + 'EN1-related dorsoventral syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'EN1-related dorsoventral syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'EN1-related dorsoventral syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_566841 Label(s): Liver adenomatosis + 'Liver adenomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_168549 Label(s): Axial spondylometaphyseal dysplasia + 'Axial spondylometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Axial spondylometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_168544 Label(s): Spondylometaphyseal dysplasia, Golden type + 'Spondylometaphyseal dysplasia, Golden type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_39 Label(s): Acromelanosis + 'Acromelanosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_38 Label(s): Acrokeratoelastoidosis of Costa + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic acrokeratoderma' + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrokeratoderma' + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marginal papular palmoplantar keratoderma' + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_37 Label(s): Acrodermatitis enteropathica + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with skin involvement' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of zinc metabolism and transport' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease due to fat malabsorption' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with skin involvement' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal disease due to fat malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_36 Label(s): Acrocallosal syndrome + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_35 Label(s): Propionic acidemia + 'Propionic acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic organic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_34 Label(s): Pipecolic acidemia + 'Pipecolic acidemia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Peroxisome biogenesis disorder' Class: http://www.orpha.net/ORDO/Orphanet_33 Label(s): Isovaleric acidemia + 'Isovaleric acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic organic aciduria' + 'Isovaleric acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_32 Label(s): Glutathione synthetase deficiency + 'Glutathione synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of the gamma-glutamyl cycle' + 'Glutathione synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' Class: http://www.orpha.net/ORDO/Orphanet_615986 Label(s): Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster + 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome' + 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 1' Class: http://www.orpha.net/ORDO/Orphanet_615983 Label(s): Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation + 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1611 Label(s): OBSOLETE: Deletion 20p + 'OBSOLETE: Deletion 20p' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Partial monosomy of the short arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_95854 Label(s): Levocardia + 'Levocardia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heterotaxia' Class: http://www.orpha.net/ORDO/Orphanet_566857 Label(s): Aprosencephaly + 'Aprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aprosencephaly/atelencephaly spectrum' Class: http://www.orpha.net/ORDO/Orphanet_29 Label(s): Mevalonic aciduria + 'Mevalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Mevalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mevalonate kinase deficiency' + 'Mevalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_28 Label(s): Vitamin B12-responsive methylmalonic acidemia + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of cobalamin metabolism and transport' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Methylmalonic acidemia without homocystinuria' Class: http://www.orpha.net/ORDO/Orphanet_27 Label(s): Vitamin B12-unresponsive methylmalonic acidemia + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Methylmalonic acidemia without homocystinuria' + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_25 Label(s): Glutaryl-CoA dehydrogenase deficiency + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral organic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_24 Label(s): Fumaric aciduria + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with peripheral neuropathy' + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tricarboxylic acid cycle disorder' Class: http://www.orpha.net/ORDO/Orphanet_23 Label(s): Argininosuccinic aciduria + 'Argininosuccinic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Argininosuccinic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of urea cycle metabolism and ammonia detoxification' Class: http://www.orpha.net/ORDO/Orphanet_1526 Label(s): OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome + 'OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_20 Label(s): 3-hydroxy-3-methylglutaric aciduria + '3-hydroxy-3-methylglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of fatty acid oxidation and ketogenesis' + '3-hydroxy-3-methylglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic organic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_1529 Label(s): Craniofacial-deafness-hand syndrome + 'Craniofacial-deafness-hand syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Craniofacial-deafness-hand syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Craniofacial-deafness-hand syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1606 Label(s): 1p36 deletion syndrome + '1p36 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 1' + '1p36 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' + '1p36 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_615970 Label(s): Chronic intervillositis of unknown etiology + 'Chronic intervillositis of unknown etiology' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_178338 Label(s): UV-sensitive syndrome + 'UV-sensitive syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' + 'UV-sensitive syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_331226 Label(s): Susceptibility to infection due to TYK2 deficiency + 'Susceptibility to infection due to TYK2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' Class: http://www.orpha.net/ORDO/Orphanet_410110 Label(s): Kuwait - 'Kuwait' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_210566 Label(s): Myoclonic dystonia 15 + 'Myoclonic dystonia 15' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Myoclonus-dystonia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_391479 Label(s): OBSOLETE: Syndromic frontonasal dysplasia + 'OBSOLETE: Syndromic frontonasal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_166260 Label(s): Dentinogenesis imperfecta type 2 + 'Dentinogenesis imperfecta type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dentinogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_17 Label(s): Fatal infantile lactic acidosis with methylmalonic aciduria + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' Class: http://www.orpha.net/ORDO/Orphanet_16 Label(s): Blue cone monochromatism + 'Blue cone monochromatism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' + 'Blue cone monochromatism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Color-vision disease' Class: http://www.orpha.net/ORDO/Orphanet_15 Label(s): Achondroplasia + 'Achondroplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with micromelia' + 'Achondroplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'FGFR3-related chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_14 Label(s): Abetalipoproteinemia + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive metabolic cerebellar ataxia' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease due to fat malabsorption' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal disease due to fat malabsorption' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypobetalipoproteinemia' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional hemolytic anemia due to acanthocytosis' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_13 Label(s): 6-pyruvoyl-tetrahydropterin synthase deficiency + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperphenylalaninemia due to tetrahydrobiopterin deficiency' Class: http://www.orpha.net/ORDO/Orphanet_11 Label(s): Pentasomy X + 'Pentasomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polysomy of X chromosome' Class: http://www.orpha.net/ORDO/Orphanet_10 Label(s): 48,XXYY syndrome + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sex chromosome disorder of sex development' + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X and Y chromosomal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_615964 Label(s): Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate + 'Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tricarboxylic acid cycle disorder' + 'Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_708 Label(s): Peters anomaly + 'Peters anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental anomaly without extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_206606 Label(s): OBSOLETE: Other muscle weakness and/or chronic muscle pain + 'OBSOLETE: Other muscle weakness and/or chronic muscle pain' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Qualitative or quantitative defects of dystrophin' Class: http://www.orpha.net/ORDO/Orphanet_391487 Label(s): Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polyendocrinopathy' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic autoimmune enteropathy' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic susceptibility to infections due to particular pathogens' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic polyendocrinopathy' Class: http://www.orpha.net/ORDO/Orphanet_293173 Label(s): Acute generalized exanthematous pustulosis + 'Acute generalized exanthematous pustulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic dermatosis' Class: http://www.orpha.net/ORDO/Orphanet_2101 Label(s): Grubben-de Cock-Borghgraef syndrome + 'Grubben-de Cock-Borghgraef syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Grubben-de Cock-Borghgraef syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Grubben-de Cock-Borghgraef syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_448267 Label(s): Regressive spondylometaphyseal dysplasia + 'Regressive spondylometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_423994 Label(s): Squamous cell carcinoma of the colon + 'Squamous cell carcinoma of the colon' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare epithelial tumor of colon' Class: http://www.orpha.net/ORDO/Orphanet_404135 Label(s): protein kinase cAMP-activated catalytic subunit alpha - 'protein kinase cAMP-activated catalytic subunit alpha' SubClassOf 'role in the phenotype of' some 'Primary pigmented nodular adrenocortical disease' + 'protein kinase cAMP-activated catalytic subunit alpha' SubClassOf 'disease-causing somatic mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' + 'protein kinase cAMP-activated catalytic subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Ellis Van Creveld syndrome' Class: http://www.orpha.net/ORDO/Orphanet_448264 Label(s): Isolated focal non-epidermolytic palmoplantar keratoderma + 'Isolated focal non-epidermolytic palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated focal palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_710 Label(s): Pfeiffer syndrome + 'Pfeiffer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Pfeiffer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniostenosis with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_713 Label(s): Glycogen storage disease due to phosphoglycerate kinase 1 deficiency + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' Class: http://www.orpha.net/ORDO/Orphanet_93622 Label(s): Dent disease type 1 + 'Dent disease type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dent disease' Class: http://www.orpha.net/ORDO/Orphanet_718 Label(s): Isolated Pierre Robin syndrome + 'Isolated Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' Class: http://www.orpha.net/ORDO/Orphanet_719 Label(s): OBSOLETE: Pili canulati + 'OBSOLETE: Pili canulati' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Uncombable hair syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293707 Label(s): Blepharophimosis-intellectual disability syndrome, MKB type + 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Blepharophimosis-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166302 Label(s): Benign partial epilepsy with secondarily generalized seizures in infancy + 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign non-familial infantile seizures' Class: http://www.orpha.net/ORDO/Orphanet_314389 Label(s): Xq12-q13.3 duplication syndrome + 'Xq12-q13.3 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome X' + 'Xq12-q13.3 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' Class: http://www.orpha.net/ORDO/Orphanet_91416 Label(s): Isolated congenital alacrima + 'Isolated congenital alacrima' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital alacrima' Class: http://www.orpha.net/ORDO/Orphanet_91414 Label(s): Pilomatrixoma + 'Pilomatrixoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_91413 Label(s): Congenital Horner syndrome + 'Congenital Horner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Congenital Horner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'Congenital Horner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' Class: http://www.orpha.net/ORDO/Orphanet_91412 Label(s): Marcus-Gunn syndrome + 'Marcus-Gunn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' Class: http://www.orpha.net/ORDO/Orphanet_91411 Label(s): Congenital ptosis + 'Congenital ptosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' Class: http://www.orpha.net/ORDO/Orphanet_48431 Label(s): Congenital cataracts-facial dysmorphism-neuropathy syndrome + 'Congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' + 'Congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebellar ataxia with peripheral neuropathy' + 'Congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic epicanthus' + 'Congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive degenerative and progressive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_666 Label(s): Osteogenesis imperfecta + 'Osteogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_2024 Label(s): Hereditary gingival fibromatosis + 'Hereditary gingival fibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Hereditary gingival fibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontal or periodontal disorder' + 'Hereditary gingival fibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_448251 Label(s): Progressive autosomal recessive ataxia-deafness syndrome + 'Progressive autosomal recessive ataxia-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_93616 Label(s): Hemoglobin H disease + 'Hemoglobin H disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha-thalassemia' + 'Hemoglobin H disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency secondary to storage disease' Class: http://www.orpha.net/ORDO/Orphanet_93612 Label(s): Cystinuria type A + 'Cystinuria type A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cystinuria' Class: http://www.orpha.net/ORDO/Orphanet_93611 Label(s): Autosomal recessive distal renal tubular acidosis with deafness + 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_615943 Label(s): Granuloma faciale + 'Granuloma faciale' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_833 Label(s): Encephalopathy due to sulfite oxidase deficiency + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental anomaly of metabolic origin' Class: http://www.orpha.net/ORDO/Orphanet_2111 Label(s): Cystic hamartoma of lung and kidney + 'Cystic hamartoma of lung and kidney' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Cystic hamartoma of lung and kidney' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tumor' Class: http://www.orpha.net/ORDO/Orphanet_2114 Label(s): Hip dysplasia, Beukes type + 'Hip dysplasia, Beukes type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' Class: http://www.orpha.net/ORDO/Orphanet_141239 Label(s): Median cleft of the upper lip and maxilla + 'Median cleft of the upper lip and maxilla' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Median facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_93609 Label(s): Autosomal recessive distal renal tubular acidosis without deafness + 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_157769 Label(s): Situs ambiguus + 'Situs ambiguus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heterotaxia' + 'Situs ambiguus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' + 'Situs ambiguus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_731 Label(s): Autosomal recessive polycystic kidney disease + 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with obstructive azoospermia' + 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with obstructive azoospermia' + 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' Class: http://www.orpha.net/ORDO/Orphanet_615938 Label(s): Spastic paraparesis-cataracts-speech delay syndrome + 'Spastic paraparesis-cataracts-speech delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Spastic paraparesis-cataracts-speech delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' + 'Spastic paraparesis-cataracts-speech delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Spastic paraparesis-cataracts-speech delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' Class: http://www.orpha.net/ORDO/Orphanet_734 Label(s): Alpha delta granule deficiency + 'Alpha delta granule deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_93602 Label(s): Xanthinuria type II + 'Xanthinuria type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary xanthinuria' Class: http://www.orpha.net/ORDO/Orphanet_93601 Label(s): Xanthinuria type I + 'Xanthinuria type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary xanthinuria' Class: http://www.orpha.net/ORDO/Orphanet_93600 Label(s): Primary hyperoxaluria type 3 + 'Primary hyperoxaluria type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary hyperoxaluria' Class: http://www.orpha.net/ORDO/Orphanet_538963 Label(s): Combined immunodeficiency due to ITK deficiency + 'Combined immunodeficiency due to ITK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to ITK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210584 Label(s): Spindle cell hemangioma + 'Spindle cell hemangioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_63862 Label(s): Schisis association + 'Schisis association' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_423968 Label(s): Squamous cell carcinoma of the small intestine + 'Squamous cell carcinoma of the small intestine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of small intestine' Class: http://www.orpha.net/ORDO/Orphanet_91494 Label(s): Macular coloboma-cleft palate-hallux valgus syndrome + 'Macular coloboma-cleft palate-hallux valgus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic macular dystrophy' + 'Macular coloboma-cleft palate-hallux valgus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Macular coloboma-cleft palate-hallux valgus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic developmental defect of the eye' + 'Macular coloboma-cleft palate-hallux valgus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_448237 Label(s): Zika virus disease + 'Zika virus disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_178469 Label(s): Autosomal dominant non-syndromic intellectual disability + 'Autosomal dominant non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_178464 Label(s): Hereditary myopathy with early respiratory failure + 'Hereditary myopathy with early respiratory failure' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of titin' + 'Hereditary myopathy with early respiratory failure' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' + 'Hereditary myopathy with early respiratory failure' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inclusion myopathy' Class: http://www.orpha.net/ORDO/Orphanet_743 Label(s): Severe hereditary thrombophilia due to congenital protein S deficiency + 'Severe hereditary thrombophilia due to congenital protein S deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary thrombophilia' Class: http://www.orpha.net/ORDO/Orphanet_745 Label(s): Severe hereditary thrombophilia due to congenital protein C deficiency + 'Severe hereditary thrombophilia due to congenital protein C deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary thrombophilia' Class: http://www.orpha.net/ORDO/Orphanet_556985 Label(s): Early-onset calcifying leukoencephalopathy-skeletal dysplasia + 'Early-onset calcifying leukoencephalopathy-skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Early-onset calcifying leukoencephalopathy-skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Early-onset calcifying leukoencephalopathy-skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Early-onset calcifying leukoencephalopathy-skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_2150 Label(s): Hirschsprung disease-type D brachydactyly syndrome + 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with Hirschsprung disease as a major feature' + 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' + 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_749 Label(s): Congenital prekallikrein deficiency + 'Congenital prekallikrein deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_845 Label(s): Tay-Sachs disease + 'Tay-Sachs disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Tay-Sachs disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral lipidosis with dementia' + 'Tay-Sachs disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'GM2 gangliosidosis' + 'Tay-Sachs disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_99806 Label(s): Oculootodental syndrome + 'Oculootodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Oculootodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Oculootodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 11' Class: http://www.orpha.net/ORDO/Orphanet_847 Label(s): Alpha-thalassemia-X-linked intellectual disability syndrome + 'Alpha-thalassemia-X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with alpha-thalassemia as a major feature' + 'Alpha-thalassemia-X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'Alpha-thalassemia-X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'Alpha-thalassemia-X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Alpha-thalassemia-X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_137932 Label(s): Congenital laryngeal palsy + 'Congenital laryngeal palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' + 'Congenital laryngeal palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_31837 Label(s): Pulmonary venoocclusive disease + 'Pulmonary venoocclusive disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' Class: http://www.orpha.net/ORDO/Orphanet_2123 Label(s): Diffuse neonatal hemangiomatosis + 'Diffuse neonatal hemangiomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_623695 Label(s): MIR140-related spondyloepiphyseal dysplasia + 'MIR140-related spondyloepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2126 Label(s): Solitary fibrous tumor/hemangiopericytoma + 'Solitary fibrous tumor/hemangiopericytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_2128 Label(s): Isolated hemihyperplasia + 'Isolated hemihyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Macroglossia' + 'Isolated hemihyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Isolated hemihyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_227535 Label(s): Hereditary breast cancer + 'Hereditary breast cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic gynecological tumor' + 'Hereditary breast cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare malignant breast tumor' + 'Hereditary breast cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some http://www.orpha.net/ORDO/Orphanet_626609 Class: http://www.orpha.net/ORDO/Orphanet_562509 Label(s): Heme oxygenase-1 deficiency + 'Heme oxygenase-1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of porphyrin and heme metabolism' Class: http://www.orpha.net/ORDO/Orphanet_157794 Label(s): Hereditary mixed polyposis syndrome + 'Hereditary mixed polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal polyposis' + 'Hereditary mixed polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal polyposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_102373 Label(s): OBSOLETE: Primary glomerular disease + 'OBSOLETE: Primary glomerular disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_251927 Label(s): Extraventricular neurocytoma + 'Extraventricular neurocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuronal tumor' Class: http://www.orpha.net/ORDO/Orphanet_231531 Label(s): Hermansky-Pudlak syndrome due to BLOC-1 deficiency + 'Hermansky-Pudlak syndrome due to BLOC-1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hermansky-Pudlak syndrome' Class: http://www.orpha.net/ORDO/Orphanet_108987 Label(s): OBSOLETE: Syndromic developmental defect of the eye + 'OBSOLETE: Syndromic developmental defect of the eye' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Structural developmental eye defect' Class: http://www.orpha.net/ORDO/Orphanet_108985 Label(s): OBSOLETE: Non-syndromic developmental defect of the eye + 'OBSOLETE: Non-syndromic developmental defect of the eye' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Structural developmental eye defect' Class: http://www.orpha.net/ORDO/Orphanet_363972 Label(s): Noonan syndrome-like disorder with juvenile myelomonocytic leukemia + 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Noonan syndrome and Noonan-related syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363976 Label(s): Giant cell tumor of bone + 'Giant cell tumor of bone' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bone sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_2133 Label(s): Hemoglobin E disease + 'Hemoglobin E disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hemoglobinopathy' + 'Hemoglobin E disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_2137 Label(s): Autoimmune hepatitis + 'Autoimmune hepatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Autoimmune hepatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_773 Label(s): Refsum disease + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with prominent neurologic signs' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive metabolic cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_2139 Label(s): Hernández-Aguirre Negrete syndrome + 'Hernández-Aguirre Negrete syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hernández-Aguirre Negrete syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_541454 Label(s): Anomalous aortic origin of the right coronary artery + 'Anomalous aortic origin of the right coronary artery' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomalous aortic origin of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_98073 Label(s): OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia + 'OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_98071 Label(s): OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation + 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_98070 Label(s): OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine + 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_780 Label(s): Rhabdomyosarcoma + 'Rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' + 'Rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular tumor' Class: http://www.orpha.net/ORDO/Orphanet_98805 Label(s): Primary dystonia, DYT4 type + 'Primary dystonia, DYT4 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_786 Label(s): Generalized glucocorticoid resistance syndrome + 'Generalized glucocorticoid resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XX disorder of sex development induced by fetal androgens excess' + 'Generalized glucocorticoid resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenogenital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3240 Label(s): Central nervous system calcification-deafness-tubular acidosis-anemia syndrome + 'Central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary renal tubular acidosis' + 'Central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_240957 Label(s): OBSOLETE: Susceptibility to adverse reaction due to amitriptyline treatment + 'OBSOLETE: Susceptibility to adverse reaction due to amitriptyline treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_3242 Label(s): Renpenning syndrome + 'Renpenning syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Renpenning syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98068 Label(s): OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly + 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_98812 Label(s): Paroxysmal hypnogenic dyskinesia + 'Paroxysmal hypnogenic dyskinesia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant nocturnal frontal lobe epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_792 Label(s): X-linked retinoschisis + 'X-linked retinoschisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'X-linked retinoschisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic congenital malformation of the eye with glaucoma as a major feature' + 'X-linked retinoschisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'X-linked retinoschisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital malformation of the eye with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_168448 Label(s): Spondyloepimetaphyseal dysplasia, Bieganski type + 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2149 Label(s): Nodular neuronal heterotopia + 'Nodular neuronal heterotopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Nodular neuronal heterotopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Nodular neuronal heterotopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' Class: http://www.orpha.net/ORDO/Orphanet_797 Label(s): Sarcoidosis + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to adulthood associated with a systemic disease' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory and autoimmune disease with epilepsy' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric systemic disease' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with anterior uveitis' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Granulomatous autoinflammatory syndrome' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency secondary to a granulomatous disease' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial restrictive cardiomyopathy' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with panuveitis' + 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with posterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_391397 Label(s): Hereditary sensory and autonomic neuropathy type 7 + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_308698 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glycogen branching enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_391392 Label(s): Familial episodic pain syndrome with predominantly lower limb involvement + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial episodic pain syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306762 Label(s): OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature + 'OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_79076 Label(s): Juvenile polyposis of infancy + 'Juvenile polyposis of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the long arm of chromosome 10' + 'Juvenile polyposis of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile polyposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79078 Label(s): IgG4-related dacryoadenitis and sialadenitis + 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory/autoimmune disorder involving the lacrimal system' + 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' + 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_247257 Label(s): Inhalational anthrax + 'Inhalational anthrax' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_306486 Label(s): OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance + 'OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_98826 Label(s): Refractory anemia + 'Refractory anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Refractory cytopenia with multilineage dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_98827 Label(s): Unclassified myelodysplastic syndrome + 'Unclassified myelodysplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Refractory cytopenia with multilineage dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_98829 Label(s): Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) + 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_178400 Label(s): Distal myopathy with anterior tibial onset + 'Distal myopathy with anterior tibial onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal myopathy' + 'Distal myopathy with anterior tibial onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of dysferlin' Class: http://www.orpha.net/ORDO/Orphanet_391389 Label(s): Familial episodic pain syndrome with predominantly upper body involvement + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial episodic pain syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268397 Label(s): Cervicothoracic spina bifida aperta + 'Cervicothoracic spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_541423 Label(s): Growth delay-intellectual disability-hepatopathy syndrome + 'Growth delay-intellectual disability-hepatopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Growth delay-intellectual disability-hepatopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Growth delay-intellectual disability-hepatopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' Class: http://www.orpha.net/ORDO/Orphanet_391384 Label(s): Familial episodic pain syndrome + 'Familial episodic pain syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_268392 Label(s): Cervical spina bifida aperta + 'Cervical spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_79084 Label(s): Familial partial lipodystrophy, Köbberling type + 'Familial partial lipodystrophy, Köbberling type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial lipodystrophy' + 'Familial partial lipodystrophy, Köbberling type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_308684 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glycogen branching enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_879 Label(s): Tungiasis + 'Tungiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_98831 Label(s): Acute myeloid leukemia with 11q23 abnormalities + 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3258 Label(s): Cenani-Lenz syndrome + 'Cenani-Lenz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_280133 Label(s): Complement component 3 deficiency + 'Complement component 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to a complement cascade component deficiency' Class: http://www.orpha.net/ORDO/Orphanet_98836 Label(s): Bilineal acute leukemia + 'Bilineal acute leukemia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Mixed phenotype acute leukemia' Class: http://www.orpha.net/ORDO/Orphanet_300179 Label(s): Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency + 'Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Kyphoscoliotic Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268388 Label(s): Lumbosacral spina bifida aperta + 'Lumbosacral spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_178396 Label(s): Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serpinopathy with toxic serpin polymerization' Class: http://www.orpha.net/ORDO/Orphanet_391376 Label(s): Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of asparagine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_268384 Label(s): Thoracolumbosacral spina bifida aperta + 'Thoracolumbosacral spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_79096 Label(s): Pyridoxal phosphate-responsive seizures + 'Pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pyridoxine metabolism' + 'Pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic neurotransmission anomaly with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_79097 Label(s): Folinic acid-responsive seizures + 'Folinic acid-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease involving other neurotransmitter deficiency' + 'Folinic acid-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_308670 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glycogen branching enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_275555 Label(s): Preeclampsia + 'Preeclampsia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_623626 Label(s): Paraneoplastic cerebellar degeneration + 'Paraneoplastic cerebellar degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune-mediated cerebellar ataxia' + 'Paraneoplastic cerebellar degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paraneoplastic neurologic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1183 Label(s): Opsoclonus-myoclonus syndrome + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paraneoplastic neurologic syndrome' + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brain inflammatory disease' + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with myoclonus as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_280142 Label(s): Severe combined immunodeficiency due to LCK deficiency + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Severe immune-mediated enteropathy' Class: http://www.orpha.net/ORDO/Orphanet_306462 Label(s): OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance + 'OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_98846 Label(s): Classic Hodgkin lymphoma, lymphocyte-depleted type + 'Classic Hodgkin lymphoma, lymphocyte-depleted type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_1184 Label(s): Ataxia-photosensitivity-short stature syndrome + 'Ataxia-photosensitivity-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ataxia-photosensitivity-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ataxia-photosensitivity-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_98848 Label(s): Indolent systemic mastocytosis + 'Indolent systemic mastocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98849 Label(s): Systemic mastocytosis with associated hematologic neoplasm + 'Systemic mastocytosis with associated hematologic neoplasm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_268377 Label(s): Total spina bifida aperta + 'Total spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_391366 Label(s): Growth retardation-mild developmental delay-chronic hepatitis syndrome + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' Class: http://www.orpha.net/ORDO/Orphanet_3260 Label(s): Idiopathic hypereosinophilic syndrome + 'Idiopathic hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypereosinophilic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_886 Label(s): Usher syndrome + 'Usher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Usher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Usher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in Usher gene' Class: http://www.orpha.net/ORDO/Orphanet_2162 Label(s): Holoprosencephaly + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Midline cerebral malformation' + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_398109 Label(s): Neonatal autoimmune hemolytic anemia + 'Neonatal autoimmune hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_3266 Label(s): Humero-radio-ulnar synostosis + 'Humero-radio-ulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joint formation defects' Class: http://www.orpha.net/ORDO/Orphanet_623615 Label(s): Autoimmune limbic encephalitis + 'Autoimmune limbic encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_3267 Label(s): OBSOLETE: Familial lambdoid synostosis + 'OBSOLETE: Familial lambdoid synostosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_98852 Label(s): Desquamative interstitial pneumonia + 'Desquamative interstitial pneumonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_3268 Label(s): Radioulnar synostosis-microcephaly-scoliosis syndrome + 'Radioulnar synostosis-microcephaly-scoliosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_397973 Label(s): Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_31828 Label(s): Digitalis poisoning + 'Digitalis poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_31826 Label(s): Ethylene glycol poisoning + 'Ethylene glycol poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_31825 Label(s): Methanol poisoning + 'Methanol poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_31824 Label(s): Colchicine poisoning + 'Colchicine poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_268366 Label(s): Closed iniencephaly + 'Closed iniencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Iniencephaly' Class: http://www.orpha.net/ORDO/Orphanet_268363 Label(s): Open iniencephaly + 'Open iniencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Iniencephaly' Class: http://www.orpha.net/ORDO/Orphanet_88939 Label(s): Pseudohypoaldosteronism type 2B + 'Pseudohypoaldosteronism type 2B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoaldosteronism type 2' Class: http://www.orpha.net/ORDO/Orphanet_70567 Label(s): Cholangiocarcinoma + 'Cholangiocarcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of gallbladder and extrahepatic biliary tract' + 'Cholangiocarcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_397968 Label(s): Charcot-Marie-Tooth disease type 2R + 'Charcot-Marie-Tooth disease type 2R' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98863 Label(s): X-linked Emery-Dreifuss muscular dystrophy + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Emery-Dreifuss muscular dystrophy' + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of emerin' Class: http://www.orpha.net/ORDO/Orphanet_397964 Label(s): Combined immunodeficiency due to MALT1 deficiency + 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_98867 Label(s): Hereditary pyropoikilocytosis + 'Hereditary pyropoikilocytosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98868 Label(s): Southeast Asian ovalocytosis + 'Southeast Asian ovalocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98869 Label(s): Congenital dyserythropoietic anemia type I + 'Congenital dyserythropoietic anemia type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_217407 Label(s): Hereditary hypotrichosis with recurrent skin vesicles + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_88940 Label(s): Pseudohypoaldosteronism type 2C + 'Pseudohypoaldosteronism type 2C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoaldosteronism type 2' Class: http://www.orpha.net/ORDO/Orphanet_26348 Label(s): Acquired prothrombin deficiency + 'Acquired prothrombin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_897 Label(s): Waardenburg-Shah syndrome + 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypopigmentation of the skin' + 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hypopigmentation of the skin' + 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with Hirschsprung disease as a major feature' + 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' Class: http://www.orpha.net/ORDO/Orphanet_2170 Label(s): Methylcobalamin deficiency type cblG + 'Methylcobalamin deficiency type cblG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Homocystinuria without methylmalonic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_2300 Label(s): Multiple intestinal atresia + 'Multiple intestinal atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Multiple intestinal atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Multiple intestinal atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_398127 Label(s): Neonatal scleroderma + 'Neonatal scleroderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_2301 Label(s): Congenital short bowel syndrome + 'Congenital short bowel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic intestinal malformation' + 'Congenital short bowel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary short bowel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397959 Label(s): TCR-alpha-beta-positive T-cell deficiency + 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' + 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Severe immune-mediated enteropathy' Class: http://www.orpha.net/ORDO/Orphanet_306436 Label(s): OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance + 'OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_71528 Label(s): Obesity due to prohormone convertase I deficiency + 'Obesity due to prohormone convertase I deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_397951 Label(s): Microcephaly-thin corpus callosum-intellectual disability syndrome + 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98879 Label(s): Hemophilia B + 'Hemophilia B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemophilia' Class: http://www.orpha.net/ORDO/Orphanet_391330 Label(s): X-linked osteoporosis with fractures + 'X-linked osteoporosis with fractures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_33226 Label(s): Waldenström macroglobulinemia + 'Waldenström macroglobulinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Indolent B-cell non-Hodgkin lymphoma' + 'Waldenström macroglobulinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant lymphoma with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98880 Label(s): Familial afibrinogenemia + 'Familial afibrinogenemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital fibrinogen deficiency' Class: http://www.orpha.net/ORDO/Orphanet_98881 Label(s): Familial dysfibrinogenemia + 'Familial dysfibrinogenemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital fibrinogen deficiency' Class: http://www.orpha.net/ORDO/Orphanet_397946 Label(s): Autosomal spastic paraplegia type 58 + 'Autosomal spastic paraplegia type 58' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_71518 Label(s): Benign paroxysmal torticollis of infancy + 'Benign paroxysmal torticollis of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paroxysmal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_71517 Label(s): Rapid-onset dystonia-parkinsonism + 'Rapid-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian disorder' + 'Rapid-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' + 'Rapid-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic parkinsonian disorder' Class: http://www.orpha.net/ORDO/Orphanet_98886 Label(s): Bleeding diathesis due to integrin alpha2-beta1 deficiency + 'Bleeding diathesis due to integrin alpha2-beta1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bleeding diathesis due to a collagen receptor defect' Class: http://www.orpha.net/ORDO/Orphanet_397941 Label(s): MAN1B1-CDG + 'MAN1B1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'MAN1B1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'MAN1B1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_52901 Label(s): Isolated follicle stimulating hormone deficiency + 'Isolated follicle stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hypogonadotropic hypogonadism' + 'Isolated follicle stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_391327 Label(s): X-linked calvarial hyperostosis + 'X-linked calvarial hyperostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_538101 Label(s): Congenital axonal neuropathy with encephalopathy + 'Congenital axonal neuropathy with encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_589905 Label(s): PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome + 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' + 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_391320 Label(s): East Texas bleeding disorder + 'East Texas bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Factor V short isoforms-related bleeding disorder' Class: http://www.orpha.net/ORDO/Orphanet_3282 Label(s): Multifocal atrial tachycardia + 'Multifocal atrial tachycardia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_308621 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glycogen branching enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_557003 Label(s): Oculocerebrodental syndrome + 'Oculocerebrodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Oculocerebrodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Oculocerebrodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathy' + 'Oculocerebrodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculocerebrodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with defective bone mineralization' + 'Oculocerebrodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Oculocerebrodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Oculocerebrodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculocerebrodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontologic disease' Class: http://www.orpha.net/ORDO/Orphanet_3286 Label(s): Catecholaminergic polymorphic ventricular tachycardia + 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_401874 Label(s): Multiple mitochondrial dysfunctions syndrome type 2 + 'Multiple mitochondrial dysfunctions syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple mitochondrial dysfunctions syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397937 Label(s): Polyglucosan body myopathy type 1 + 'Polyglucosan body myopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Polyglucosan body myopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromuscular disease with dilated cardiomyopathy' + 'Polyglucosan body myopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' + 'Polyglucosan body myopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_98894 Label(s): Congenital muscular dystrophy type 1D + 'Congenital muscular dystrophy type 1D' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_2174 Label(s): Hunter-Carpenter-McDonald syndrome + 'Hunter-Carpenter-McDonald syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Infantile neuroaxonal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_397933 Label(s): Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome + 'Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_263339 Label(s): Poorly differentiated thymic neuroendocrine carcinoma + 'Poorly differentiated thymic neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thymic neuroendocrine carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_2189 Label(s): Hydrolethalus + 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathy' Class: http://www.orpha.net/ORDO/Orphanet_268322 Label(s): Hereditary thrombocytopenia with normal platelets + 'Hereditary thrombocytopenia with normal platelets' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_391311 Label(s): Susceptibility to viral and mycobacterial infections due to STAT1 deficiency + 'Susceptibility to viral and mycobacterial infections due to STAT1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_480851 Label(s): Hereditary thrombocytopenia with early-onset myelofibrosis + 'Hereditary thrombocytopenia with early-onset myelofibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloproliferative neoplasm' + 'Hereditary thrombocytopenia with early-onset myelofibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_401866 Label(s): Childhood-onset spasticity with hyperglycinemia + 'Childhood-onset spasticity with hyperglycinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Childhood-onset spasticity with hyperglycinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lipoic acid biosynthesis defect' + 'Childhood-onset spasticity with hyperglycinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spastic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_410174 Label(s): Russian Federation - 'Russian Federation' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_397927 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_231393 Label(s): Beta-thalassemia-X-linked thrombocytopenia syndrome + 'Beta-thalassemia-X-linked thrombocytopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beta-thalassemia with other manifestations' Class: http://www.orpha.net/ORDO/Orphanet_397922 Label(s): Ferro-cerebro-cutaneous syndrome + 'Ferro-cerebro-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_391307 Label(s): Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome + 'Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_35061 Label(s): OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes + 'OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_35062 Label(s): Severe disseminated cytomegalovirus infection in immunocompetent patients + 'Severe disseminated cytomegalovirus infection in immunocompetent patients' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_35063 Label(s): Fulminant viral hepatitis + 'Fulminant viral hepatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Fulminant viral hepatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_35064 Label(s): OBSOLETE: Lethal idiopathic viral infection + 'OBSOLETE: Lethal idiopathic viral infection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_35065 Label(s): OBSOLETE: Idiopathic severe pneumococcemia + 'OBSOLETE: Idiopathic severe pneumococcemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_308604 Label(s): OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset + 'OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glycogen storage disease due to acid maltase deficiency, late-onset' Class: http://www.orpha.net/ORDO/Orphanet_35069 Label(s): Infantile neuroaxonal dystrophy + 'Infantile neuroaxonal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PLA2G6-associated neurodegeneration' + 'Infantile neuroaxonal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_401859 Label(s): Lipoic acid synthetase deficiency + 'Lipoic acid synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Lipoic acid synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'Lipoic acid synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lipoic acid biosynthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_480864 Label(s): Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome + 'Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with epilepsy' + 'Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_506136 Label(s): Neuroendocrine neoplasm of esophagus + 'Neuroendocrine neoplasm of esophagus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal tumor' + 'Neuroendocrine neoplasm of esophagus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gastroenteric neuroendocrine neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_570470 Label(s): Ricin poisoning + 'Ricin poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hematologic disease' + 'Ricin poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_238569 Label(s): Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune dysregulation with inflammatory bowel disease' + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary connective tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_35078 Label(s): T-B+ severe combined immunodeficiency due to JAK3 deficiency + 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_86797 Label(s): Atypical lichen myxedematosus + 'Atypical lichen myxedematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_401849 Label(s): Autosomal spastic paraplegia type 72 + 'Autosomal spastic paraplegia type 72' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive pure spastic paraplegia' + 'Autosomal spastic paraplegia type 72' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_36273 Label(s): Gastric linitis plastica + 'Gastric linitis plastica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of stomach' Class: http://www.orpha.net/ORDO/Orphanet_263455 Label(s): Hyperinsulinism due to HNF4A deficiency + 'Hyperinsulinism due to HNF4A deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-sensitive diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_401840 Label(s): Autosomal recessive spastic paraplegia type 71 + 'Autosomal recessive spastic paraplegia type 71' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_199627 Label(s): Atypical autism + 'Atypical autism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pervasive developmental disorder' Class: http://www.orpha.net/ORDO/Orphanet_2988 Label(s): Pterygium colli-intellectual disability-digital anomalies syndrome + 'Pterygium colli-intellectual disability-digital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pterygium colli-intellectual disability-digital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_447893 Label(s): Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome + 'Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '4H leukodystrophy' + 'Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_64755 Label(s): Becker nevus syndrome + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Deficient breast volume or number' + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_480880 Label(s): X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability + 'X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_401835 Label(s): Autosomal recessive spastic paraplegia type 70 + 'Autosomal recessive spastic paraplegia type 70' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_199630 Label(s): Isolated cerebellar vermis hypoplasia + 'Isolated cerebellar vermis hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the cerebellar vermis' Class: http://www.orpha.net/ORDO/Orphanet_263347 Label(s): MRCS syndrome + 'MRCS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'MRCS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'MRCS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_2323 Label(s): Sanjad-Sakati syndrome + 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with hypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_276066 Label(s): Bile acid CoA ligase deficiency and defective amidation + 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bile acid synthesis defect with cholestasis and malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_401830 Label(s): Autosomal recessive spastic paraplegia type 69 + 'Autosomal recessive spastic paraplegia type 69' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_506112 Label(s): Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas + 'Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine neoplasm of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_363746 Label(s): Balint syndrome + 'Balint syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_2060 Label(s): Fukuda-Miyanomae-Nakata syndrome + 'Fukuda-Miyanomae-Nakata syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Craniosynostosis-anal anomalies-porokeratosis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1597 Label(s): Distal monosomy 17q + 'Distal monosomy 17q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_1596 Label(s): Distal monosomy 15q + 'Distal monosomy 15q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 15' Class: http://www.orpha.net/ORDO/Orphanet_2209 Label(s): Maternal phenylketonuria + 'Maternal phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Maternal phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Maternal phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' + 'Maternal phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phenylalanine metabolism' + 'Maternal phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal disease-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_1590 Label(s): Distal monosomy 13q + 'Distal monosomy 13q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 13' + 'Distal monosomy 13q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Distal monosomy 13q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_83648 Label(s): OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome + 'OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_401825 Label(s): Autosomal recessive spastic paraplegia type 68 + 'Autosomal recessive spastic paraplegia type 68' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Spastic paraplegia-optic atrophy-neuropathy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_470722 Label(s): myelin transcription factor 1 like - 'myelin transcription factor 1 like' SubClassOf 'role in the phenotype of' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_401820 Label(s): Autosomal recessive spastic paraplegia type 67 + 'Autosomal recessive spastic paraplegia type 67' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 67' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_254875 Label(s): Mitochondrial DNA depletion syndrome, myopathic form + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pyrimidine metabolism' + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA depletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_199647 Label(s): Isolated encephalocele + 'Isolated encephalocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cephalocele' Class: http://www.orpha.net/ORDO/Orphanet_248340 Label(s): Isolated delta-storage pool disease + 'Isolated delta-storage pool disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_251325 Label(s): Drug-induced vasculitis + 'Drug-induced vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_1587 Label(s): Monosomy 13q14 + 'Monosomy 13q14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Monosomy 13q14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic epicanthus' + 'Monosomy 13q14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 13' Class: http://www.orpha.net/ORDO/Orphanet_251328 Label(s): Unclassified vasculitis + 'Unclassified vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric vasculitis' + 'Unclassified vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_1581 Label(s): Non-distal monosomy 10q + 'Non-distal monosomy 10q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Non-distal monosomy 10q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the long arm of chromosome 10' + 'Non-distal monosomy 10q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_1580 Label(s): Distal monosomy 10p + 'Distal monosomy 10p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 10' Class: http://www.orpha.net/ORDO/Orphanet_438279 Label(s): Human infection by orthopoxvirus + 'Human infection by orthopoxvirus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_438274 Label(s): GCGR-related hyperglucagonemia + 'GCGR-related hyperglucagonemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' + 'GCGR-related hyperglucagonemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_401815 Label(s): Autosomal recessive spastic paraplegia type 66 + 'Autosomal recessive spastic paraplegia type 66' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_3287 Label(s): Takayasu arteritis + 'Takayasu arteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' + 'Takayasu arteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric vasculitis' + 'Takayasu arteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly large-vessel vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_401810 Label(s): Autosomal recessive spastic paraplegia type 64 + 'Autosomal recessive spastic paraplegia type 64' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive spastic paraplegia type 64' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_166299 Label(s): Benign partial epilepsy of infancy with complex partial seizures + 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign non-familial infantile seizures' Class: http://www.orpha.net/ORDO/Orphanet_363727 Label(s): X-linked dyserythropoietic anemia with abnormal platelets and neutropenia + 'X-linked dyserythropoietic anemia with abnormal platelets and neutropenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hereditary giant platelet disorder' + 'X-linked dyserythropoietic anemia with abnormal platelets and neutropenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_1575 Label(s): OBSOLETE: Infantile striatothalamic degeneration + 'OBSOLETE: Infantile striatothalamic degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial infantile bilateral striatal necrosis' Class: http://www.orpha.net/ORDO/Orphanet_1574 Label(s): Retinal degeneration-nanophthalmos-glaucoma syndrome + 'Retinal degeneration-nanophthalmos-glaucoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_166291 Label(s): Dirofilariasis + 'Dirofilariasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filariasis' Class: http://www.orpha.net/ORDO/Orphanet_1571 Label(s): Knobloch syndrome + 'Knobloch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Knobloch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_1570 Label(s): Symbrachydactyly of hands and feet + 'Symbrachydactyly of hands and feet' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_438266 Label(s): Progressive encephalomyelitis with rigidity and myoclonus + 'Progressive encephalomyelitis with rigidity and myoclonus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stiff person spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_36238 Label(s): Staphylococcal necrotizing pneumonia + 'Staphylococcal necrotizing pneumonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Staphylococcal toxemia' + 'Staphylococcal necrotizing pneumonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_36237 Label(s): Bullous impetigo + 'Bullous impetigo' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Staphylococcal toxemia' + 'Bullous impetigo' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_83628 Label(s): LUMBAR syndrome + 'LUMBAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vascular tumor with associated anomalies' + 'LUMBAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'LUMBAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'LUMBAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'LUMBAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'LUMBAR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified genetic skin disorder' Class: http://www.orpha.net/ORDO/Orphanet_36235 Label(s): Staphylococcal scarlet fever + 'Staphylococcal scarlet fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Staphylococcal toxemia' Class: http://www.orpha.net/ORDO/Orphanet_401805 Label(s): Autosomal recessive spastic paraplegia type 63 + 'Autosomal recessive spastic paraplegia type 63' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_168491 Label(s): Late infantile neuronal ceroid lipofuscinosis + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_411788 Label(s): Familial isolated trichomegaly + 'Familial isolated trichomegaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hair anomaly' + 'Familial isolated trichomegaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hair anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401800 Label(s): Autosomal recessive spastic paraplegia type 60 + 'Autosomal recessive spastic paraplegia type 60' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_83620 Label(s): Enteric anendocrinosis + 'Enteric anendocrinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital enteropathy involving intestinal mucosa development' Class: http://www.orpha.net/ORDO/Orphanet_99844 Label(s): Leukocyte adhesion deficiency type III + 'Leukocyte adhesion deficiency type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukocyte adhesion deficiency' + 'Leukocyte adhesion deficiency type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_1569 Label(s): De Sanctis-Cacchione syndrome + 'De Sanctis-Cacchione syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_1566 Label(s): Dandy-Walker malformation-postaxial polydactyly syndrome + 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a Dandy-Walker malformation as a major feature' + 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a Dandy-Walker malformation as a major feature' + 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_166282 Label(s): Familial sick sinus syndrome + 'Familial sick sinus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_1563 Label(s): Dahlberg-Borer-Newcomer syndrome + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary lymphedema with systemic or visceral involvement' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with hypoparathyroidism' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_206575 Label(s): Rippling muscle disease with myasthenia gravis + 'Rippling muscle disease with myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune-mediated acquired neuromuscular junction disease' Class: http://www.orpha.net/ORDO/Orphanet_1561 Label(s): Fatal infantile cytochrome C oxidase deficiency + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' Class: http://www.orpha.net/ORDO/Orphanet_91397 Label(s): Isolated ankyloblepharon filiforme adnatum + 'Isolated ankyloblepharon filiforme adnatum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Isolated ankyloblepharon filiforme adnatum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Eyelid border anomaly' Class: http://www.orpha.net/ORDO/Orphanet_206572 Label(s): Overlap myositis + 'Overlap myositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_83619 Label(s): Macrostomia-preauricular tags-external ophthalmoplegia syndrome + 'Macrostomia-preauricular tags-external ophthalmoplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Macrostomia-preauricular tags-external ophthalmoplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_83618 Label(s): Severe dilated cardiomyopathy due to lamin A/C mutation + 'Severe dilated cardiomyopathy due to lamin A/C mutation' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' Class: http://www.orpha.net/ORDO/Orphanet_83617 Label(s): Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome + 'Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic agammaglobulinemia' + 'Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_83616 Label(s): Rubella panencephalitis + 'Rubella panencephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' + 'Rubella panencephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' + 'Rubella panencephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_50839 Label(s): Cat-scratch disease + 'Cat-scratch disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_93598 Label(s): Primary hyperoxaluria type 1 + 'Primary hyperoxaluria type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary hyperoxaluria' + 'Primary hyperoxaluria type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Primary hyperoxaluria type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' Class: http://www.orpha.net/ORDO/Orphanet_309015 Label(s): Familial lipoprotein lipase deficiency + 'Familial lipoprotein lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial chylomicronemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93592 Label(s): Juvenile nephronophthisis + 'Juvenile nephronophthisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephronophthisis' Class: http://www.orpha.net/ORDO/Orphanet_93591 Label(s): Infantile nephronophthisis + 'Infantile nephronophthisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephronophthisis' Class: http://www.orpha.net/ORDO/Orphanet_206569 Label(s): Immune-mediated necrotizing myopathy + 'Immune-mediated necrotizing myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_166272 Label(s): Odontochondrodysplasia + 'Odontochondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Odontochondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' + 'Odontochondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformative syndrome with dentinogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_1553 Label(s): Curry-Jones syndrome + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1552 Label(s): Currarino syndrome + 'Currarino syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic uterovaginal malformation' + 'Currarino syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' + 'Currarino syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_1551 Label(s): Familial benign copper deficiency + 'Familial benign copper deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of copper metabolism' Class: http://www.orpha.net/ORDO/Orphanet_91387 Label(s): Familial thoracic aortic aneurysm and aortic dissection + 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome and Marfan-related disorders' + 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_413976 Label(s): solute carrier family 13 member 5 - 'solute carrier family 13 member 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Pyridoxine-dependent epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_97229 Label(s): Riboflavin transporter deficiency + 'Riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bulbospinal muscular atrophy of childhood' Class: http://www.orpha.net/ORDO/Orphanet_565641 Label(s): Primary desmosis coli + 'Primary desmosis coli' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_93589 Label(s): Late-onset nephronophthisis + 'Late-onset nephronophthisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephronophthisis' Class: http://www.orpha.net/ORDO/Orphanet_83601 Label(s): Steroid-responsive encephalopathy associated with autoimmune thyroiditis + 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune encephalitis' + 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' + 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare adult hypothyroidism' + 'Steroid-responsive encephalopathy associated with autoimmune thyroiditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired ataxia' Class: http://www.orpha.net/ORDO/Orphanet_93585 Label(s): Immune-mediated thrombotic thrombocytopenic purpura + 'Immune-mediated thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thrombotic thrombocytopenic purpura' Class: http://www.orpha.net/ORDO/Orphanet_93581 Label(s): Atypical hemolytic uremic syndrome with anti-factor H antibodies + 'Atypical hemolytic uremic syndrome with anti-factor H antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atypical hemolytic uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206559 Label(s): POMT2-related limb-girdle muscular dystrophy R14 + 'POMT2-related limb-girdle muscular dystrophy R14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'POMT2-related limb-girdle muscular dystrophy R14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'POMT2-related limb-girdle muscular dystrophy R14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'POMT2-related limb-girdle muscular dystrophy R14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'POMT2-related limb-girdle muscular dystrophy R14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' Class: http://www.orpha.net/ORDO/Orphanet_1545 Label(s): Crisponi syndrome + 'Crisponi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cold-induced sweating syndrome-hyperthermia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_206554 Label(s): Fukutin-related limb-girdle muscular dystrophy R13 + 'Fukutin-related limb-girdle muscular dystrophy R13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'Fukutin-related limb-girdle muscular dystrophy R13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of fukutin' + 'Fukutin-related limb-girdle muscular dystrophy R13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromuscular disease with dilated cardiomyopathy' + 'Fukutin-related limb-girdle muscular dystrophy R13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with dilated cardiomyopathy' + 'Fukutin-related limb-girdle muscular dystrophy R13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Fukutin-related limb-girdle muscular dystrophy R13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_1540 Label(s): Jackson-Weiss syndrome + 'Jackson-Weiss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_268994 Label(s): Isolated focal cortical dysplasia type II + 'Isolated focal cortical dysplasia type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated focal cortical dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_309031 Label(s): Pancreatic triacylglycerol lipase deficiency + 'Pancreatic triacylglycerol lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lipid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_171723 Label(s): White sponge nevus + 'White sponge nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'White sponge nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' Class: http://www.orpha.net/ORDO/Orphanet_93579 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly + 'OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_93576 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly + 'OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_93575 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly + 'OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_1538 Label(s): Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome + 'Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a Dandy-Walker malformation as a major feature' + 'Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial scaphocephaly syndrome' + 'Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a Dandy-Walker malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1534 Label(s): OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type + 'OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_1533 Label(s): OBSOLETE: Craniosynostosis-fibular aplasia syndrome + 'OBSOLETE: Craniosynostosis-fibular aplasia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_435804 Label(s): Short stature-advanced bone age-early-onset osteoarthritis syndrome + 'Short stature-advanced bone age-early-onset osteoarthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia' + 'Short stature-advanced bone age-early-onset osteoarthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggrecan-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_91364 Label(s): Non-specific interstitial pneumonia + 'Non-specific interstitial pneumonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_435808 Label(s): OBSOLETE: ACAN-related skeletal dysplasia + 'OBSOLETE: ACAN-related skeletal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Aggrecan-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_171719 Label(s): Cutis laxa-Marfanoid syndrome + 'Cutis laxa-Marfanoid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome and Marfan-related disorders' + 'Cutis laxa-Marfanoid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' Class: http://www.orpha.net/ORDO/Orphanet_53693 Label(s): GRACILE syndrome + 'GRACILE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'GRACILE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' Class: http://www.orpha.net/ORDO/Orphanet_168454 Label(s): Spondyloepimetaphyseal dysplasia, Geneviève type + 'Spondyloepimetaphyseal dysplasia, Geneviève type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_168451 Label(s): Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome + 'Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93569 Label(s): Polymyalgia rheumatica + 'Polymyalgia rheumatica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_93568 Label(s): Juvenile polymyositis + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric systemic disease' + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile idiopathic inflammatory myopathy' + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_93567 Label(s): OBSOLETE: Pediatric systemic sclerosis + 'OBSOLETE: Pediatric systemic sclerosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_93564 Label(s): OBSOLETE: Pediatric polyarteritis nodosa + 'OBSOLETE: Pediatric polyarteritis nodosa' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polyarteritis nodosa' Class: http://www.orpha.net/ORDO/Orphanet_93562 Label(s): AFib amyloidosis + 'AFib amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary amyloidosis with primary renal involvement' Class: http://www.orpha.net/ORDO/Orphanet_1528 Label(s): Craniotelencephalic dysplasia + 'Craniotelencephalic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Craniotelencephalic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with lissencephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_93560 Label(s): AApoAI amyloidosis + 'AApoAI amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary amyloidosis with primary renal involvement' Class: http://www.orpha.net/ORDO/Orphanet_206538 Label(s): Malignant non-dysgerminomatous germ cell tumor of ovary + 'Malignant non-dysgerminomatous germ cell tumor of ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant germ cell tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_1524 Label(s): Craniomicromelic syndrome + 'Craniomicromelic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_91358 Label(s): Congenital esophageal diverticulum + 'Congenital esophageal diverticulum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic esophageal malformation' Class: http://www.orpha.net/ORDO/Orphanet_91355 Label(s): Sheehan syndrome + 'Sheehan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency of vascular origin' Class: http://www.orpha.net/ORDO/Orphanet_51636 Label(s): WHIM syndrome + 'WHIM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'WHIM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_48372 Label(s): Nodular regenerative hyperplasia of the liver + 'Nodular regenerative hyperplasia of the liver' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Portosinusoidal vascular disease' + 'Nodular regenerative hyperplasia of the liver' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_171709 Label(s): Male infertility due to globozoospermia + 'Male infertility due to globozoospermia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility with teratozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_171706 Label(s): Short stature-delayed bone age due to thyroid hormone metabolism deficiency + 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome of reduced sensitivity to thyroid hormone' Class: http://www.orpha.net/ORDO/Orphanet_168443 Label(s): Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome + 'Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_171703 Label(s): Microcephaly-polymicrogyria-corpus callosum agenesis syndrome + 'Microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_93559 Label(s): C3 deposition glomerulonephritis without proliferation + 'C3 deposition glomerulonephritis without proliferation' SubClassOf http://www.orpha.net/ORDO/moved_to some 'C3 glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_93557 Label(s): Light and heavy chain deposition disease + 'Light and heavy chain deposition disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-amyloid monoclonal immunoglobulin deposition disease' Class: http://www.orpha.net/ORDO/Orphanet_93556 Label(s): Heavy chain deposition disease + 'Heavy chain deposition disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-amyloid monoclonal immunoglobulin deposition disease' Class: http://www.orpha.net/ORDO/Orphanet_487809 Label(s): Pediatric collagenous gastritis + 'Pediatric collagenous gastritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_93552 Label(s): Pediatric systemic lupus erythematosus + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory and autoimmune disease with epilepsy' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric systemic disease' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thrombotic microangiopathy' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_93551 Label(s): OBSOLETE: Secondary glomerular disease + 'OBSOLETE: Secondary glomerular disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_93550 Label(s): OBSOLETE: Basement membrane disease + 'OBSOLETE: Basement membrane disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Collagen-related glomerular basement membrane disease' Class: http://www.orpha.net/ORDO/Orphanet_99228 Label(s): Mosaic monosomy X + 'Mosaic monosomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Turner syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1515 Label(s): Cranioectodermal dysplasia + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Short rib-polydactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98124 Label(s): OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect + 'OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_91349 Label(s): Non-functioning pituitary adenoma + 'Non-functioning pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_98125 Label(s): OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect + 'OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant nocturnal frontal lobe epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_163908 Label(s): OBSOLETE: Limbic encephalitis with LGI1 antibodies + 'OBSOLETE: Limbic encephalitis with LGI1 antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_139373 Label(s): OBSOLETE: Recessive hereditary methemoglobinemia type 1 + 'OBSOLETE: Recessive hereditary methemoglobinemia type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary methemoglobinemia' Class: http://www.orpha.net/ORDO/Orphanet_371439 Label(s): OBSOLETE: Genetic cerebrovascular dementia + 'OBSOLETE: Genetic cerebrovascular dementia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cerebrovascular dementia' Class: http://www.orpha.net/ORDO/Orphanet_2356 Label(s): Arachnoid cyst + 'Arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency of meningeal origin' + 'Arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic central nervous system malformation' + 'Arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central nervous system cystic malformation' Class: http://www.orpha.net/ORDO/Orphanet_1507 Label(s): Autosomal recessive Robinow syndrome + 'Autosomal recessive Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Robinow syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1506 Label(s): Thin ribs-tubular bones-dysmorphism syndrome + 'Thin ribs-tubular bones-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_293621 Label(s): X-linked endothelial corneal dystrophy + 'X-linked endothelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Posterior corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98338 Label(s): OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug + 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_324410 Label(s): X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome + 'X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' + 'X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_371428 Label(s): Multicentric osteolysis-nodulosis-arthropathy spectrum + 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_411712 Label(s): Maternal riboflavin deficiency + 'Maternal riboflavin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of other vitamins and cofactors metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_247839 Label(s): OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies + 'OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Oligoarticular juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_51608 Label(s): Generalized arterial calcification of infancy + 'Generalized arterial calcification of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_457395 Label(s): Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome + 'Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_251370 Label(s): Sickle cell-hemoglobin D disease syndrome + 'Sickle cell-hemoglobin D disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sickle cell disease associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_411709 Label(s): Renal agenesis + 'Renal agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' + 'Renal agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_811 Label(s): Shwachman-Diamond syndrome + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic pancreatic disease' + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional neutrophil defect' + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pancreatic disease' Class: http://www.orpha.net/ORDO/Orphanet_1643 Label(s): Xp22.3 microdeletion syndrome + 'Xp22.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_411703 Label(s): Pulmonary non-tuberculous mycobacterial infection + 'Pulmonary non-tuberculous mycobacterial infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' + 'Pulmonary non-tuberculous mycobacterial infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_1646 Label(s): Partial chromosome Y deletion + 'Partial chromosome Y deletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility with spermatogenesis disorder' + 'Partial chromosome Y deletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosome Y structural anomaly' Class: http://www.orpha.net/ORDO/Orphanet_493348 Label(s): Vibratory angioedema + 'Vibratory angioedema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic urticaria' + 'Vibratory angioedema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urticaria' Class: http://www.orpha.net/ORDO/Orphanet_293603 Label(s): Congenital hereditary endothelial dystrophy type II + 'Congenital hereditary endothelial dystrophy type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Posterior corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_95455 Label(s): Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum + 'Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic dermatosis' Class: http://www.orpha.net/ORDO/Orphanet_493342 Label(s): Vibratory urticaria + 'Vibratory urticaria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic urticaria' + 'Vibratory urticaria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urticaria' Class: http://www.orpha.net/ORDO/Orphanet_95721 Label(s): OBSOLETE: Thyroid pyramidal lobe + 'OBSOLETE: Thyroid pyramidal lobe' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital thyroid malformation without hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_95720 Label(s): Thyroid hypoplasia + 'Thyroid hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hypothyroidism due to developmental anomaly' + 'Thyroid hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital thyroid malformation without hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_228272 Label(s): Primary anetoderma + 'Primary anetoderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_178389 Label(s): Osteopetrosis-hypogammaglobulinemia syndrome + 'Osteopetrosis-hypogammaglobulinemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Osteopetrosis-hypogammaglobulinemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_93352 Label(s): Spondyloepimetaphyseal dysplasia, Shohat type + 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1652 Label(s): Dent disease + 'Dent disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatemic rickets' + 'Dent disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_1653 Label(s): Dentin dysplasia + 'Dentin dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary dentin defect' Class: http://www.orpha.net/ORDO/Orphanet_575553 Label(s): Cathepsin A-related arteriopathy-strokes-leukoencephalopathy + 'Cathepsin A-related arteriopathy-strokes-leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebral small vessel disease' + 'Cathepsin A-related arteriopathy-strokes-leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' + 'Cathepsin A-related arteriopathy-strokes-leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cerebrovascular dementia' Class: http://www.orpha.net/ORDO/Orphanet_97927 Label(s): OBSOLETE: Peripheral resistance to thyroid hormones + 'OBSOLETE: Peripheral resistance to thyroid hormones' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha' Class: http://www.orpha.net/ORDO/Orphanet_1656 Label(s): Dermatitis herpetiformis + 'Dermatitis herpetiformis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune bullous skin disease' Class: http://www.orpha.net/ORDO/Orphanet_826 Label(s): Sporotrichosis + 'Sporotrichosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_261652 Label(s): Kleefstra syndrome due to a point mutation + 'Kleefstra syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Kleefstra syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79100 Label(s): Atrophoderma vermiculata + 'Atrophoderma vermiculata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Keratosis pilaris atrophicans' Class: http://www.orpha.net/ORDO/Orphanet_79105 Label(s): Myxofibrosarcoma + 'Myxofibrosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular tumor' + 'Myxofibrosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_95719 Label(s): Thyroid hemiagenesis + 'Thyroid hemiagenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hypothyroidism due to developmental anomaly' + 'Thyroid hemiagenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital thyroid malformation without hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_95717 Label(s): Idiopathic congenital hypothyroidism + 'Idiopathic congenital hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary congenital hypothyroidism without thyroid developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_141330 Label(s): Orofaciodigital syndrome type 13 + 'Orofaciodigital syndrome type 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95715 Label(s): Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies + 'Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Transient congenital hypothyroidism due to maternal factor' Class: http://www.orpha.net/ORDO/Orphanet_141333 Label(s): Biemond syndrome type 2 + 'Biemond syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Biemond syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Biemond syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_95712 Label(s): Thyroid ectopia + 'Thyroid ectopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hypothyroidism due to developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2419 Label(s): Lymphedema-ptosis syndrome + 'Lymphedema-ptosis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Lymphedema-distichiasis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178377 Label(s): Osteosclerosis-developmental delay-craniosynostosis syndrome + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_832 Label(s): Succinyl-CoA:3-oxoacid CoA transferase deficiency + 'Succinyl-CoA:3-oxoacid CoA transferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of ketolysis' Class: http://www.orpha.net/ORDO/Orphanet_261647 Label(s): Okihiro syndrome due to a point mutation + 'Okihiro syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Okihiro syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1667 Label(s): Wolcott-Rallison syndrome + 'Wolcott-Rallison syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Wolcott-Rallison syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Wolcott-Rallison syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Wolcott-Rallison syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' + 'Wolcott-Rallison syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_838 Label(s): Susac syndrome + 'Susac syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Susac syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-inflammatory vasculopathy' + 'Susac syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'Susac syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' + 'Susac syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_100093 Label(s): Carcinoid syndrome + 'Carcinoid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_497737 Label(s): Epidermolytic nevus + 'Epidermolytic nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'Epidermolytic nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'Epidermolytic nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Keratinopathic ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_95707 Label(s): Idiopathic isolated micropenis + 'Idiopathic isolated micropenis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of male' Class: http://www.orpha.net/ORDO/Orphanet_206616 Label(s): OBSOLETE: Acquired metabolic neuropathy + 'OBSOLETE: Acquired metabolic neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_216452 Label(s): Postlingual non-syndromic genetic deafness + 'Postlingual non-syndromic genetic deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_95701 Label(s): OBSOLETE: Congenital adrenal hypoplasia of maternal cause + 'OBSOLETE: Congenital adrenal hypoplasia of maternal cause' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_95700 Label(s): Familial adrenal hypoplasia with absent pituitary luteinizing hormone + 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal hypoplasia congenita' + 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_840 Label(s): Syringocystadenoma papilliferum + 'Syringocystadenoma papilliferum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' + 'Syringocystadenoma papilliferum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_841 Label(s): Sebocystomatosis + 'Sebocystomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sebaceous gland anomaly' + 'Sebocystomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic sebaceous gland anomaly' Class: http://www.orpha.net/ORDO/Orphanet_178364 Label(s): Syndromic microphthalmia type 5 + 'Syndromic microphthalmia type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_844 Label(s): Lown-Ganong-Levine syndrome + 'Lown-Ganong-Levine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_846 Label(s): Alpha-thalassemia + 'Alpha-thalassemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha-thalassemia and related disorders' + 'Alpha-thalassemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hematological disorder with renal involvement' Class: http://www.orpha.net/ORDO/Orphanet_100086 Label(s): Gallbladder neuroendocrine tumor + 'Gallbladder neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' + 'Gallbladder neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor of gallbladder and extrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_100085 Label(s): Primary hepatic neuroendocrine carcinoma + 'Primary hepatic neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' + 'Primary hepatic neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare malignant epithelial tumor of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_100084 Label(s): Middle ear neuroendocrine tumor + 'Middle ear neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' + 'Middle ear neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_100083 Label(s): Laryngeal neuroendocrine tumor + 'Laryngeal neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' + 'Laryngeal neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_100082 Label(s): Neuroendocrine tumor of anal canal + 'Neuroendocrine tumor of anal canal' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gastroenteric neuroendocrine neoplasm' + 'Neuroendocrine tumor of anal canal' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epithelial tumor of anal canal' Class: http://www.orpha.net/ORDO/Orphanet_100081 Label(s): Neuroendocrine tumor of the rectum + 'Neuroendocrine tumor of the rectum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gastroenteric neuroendocrine neoplasm' + 'Neuroendocrine tumor of the rectum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare epithelial tumor of rectum' Class: http://www.orpha.net/ORDO/Orphanet_100080 Label(s): Neuroendocrine tumor of the colon + 'Neuroendocrine tumor of the colon' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare epithelial tumor of colon' + 'Neuroendocrine tumor of the colon' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gastroenteric neuroendocrine neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_79128 Label(s): Lymphoid interstitial pneumonia + 'Lymphoid interstitial pneumonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_79129 Label(s): Trichodysplasia-amelogenesis imperfecta syndrome + 'Trichodysplasia-amelogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Trichodysplasia-amelogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Trichodysplasia-amelogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_216445 Label(s): Prelingual non-syndromic genetic deafness + 'Prelingual non-syndromic genetic deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_261629 Label(s): Alagille syndrome due to a NOTCH2 point mutation + 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alagille syndrome' Class: http://www.orpha.net/ORDO/Orphanet_853 Label(s): Fetal and neonatal alloimmune thrombocytopenia + 'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired platelet anomaly' Class: http://www.orpha.net/ORDO/Orphanet_100079 Label(s): Neuroendocrine neoplasm of appendix + 'Neuroendocrine neoplasm of appendix' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gastroenteric neuroendocrine neoplasm' + 'Neuroendocrine neoplasm of appendix' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epithelial tumor of the appendix' Class: http://www.orpha.net/ORDO/Orphanet_100078 Label(s): Ileal neuroendocrine tumor + 'Ileal neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor of the small intestine' Class: http://www.orpha.net/ORDO/Orphanet_100075 Label(s): Neuroendocrine tumor of stomach + 'Neuroendocrine tumor of stomach' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare epithelial tumor of stomach' + 'Neuroendocrine tumor of stomach' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gastroenteric neuroendocrine neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_100073 Label(s): Neurogenic thoracic outlet syndrome + 'Neurogenic thoracic outlet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired peripheral neuropathy' + 'Neurogenic thoracic outlet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic outlet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100072 Label(s): OBSOLETE: True vascular thoracic outlet syndrome + 'OBSOLETE: True vascular thoracic outlet syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Thoracic outlet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100071 Label(s): Mosaic trisomy 3 + 'Mosaic trisomy 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_100070 Label(s): Progressive non-fluent aphasia + 'Progressive non-fluent aphasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal dementia' + 'Progressive non-fluent aphasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary progressive aphasia' + 'Progressive non-fluent aphasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal neurodegeneration with movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_79135 Label(s): Episodic ataxia type 3 + 'Episodic ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary episodic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_2379 Label(s): Early-onset parkinsonism-intellectual disability syndrome + 'Early-onset parkinsonism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Early-onset parkinsonism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Early-onset parkinsonism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_860 Label(s): Congenitally uncorrected transposition of the great arteries + 'Congenitally uncorrected transposition of the great arteries' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Transposition of the great arteries' Class: http://www.orpha.net/ORDO/Orphanet_261619 Label(s): Alagille syndrome due to a JAG1 point mutation + 'Alagille syndrome due to a JAG1 point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alagille syndrome' Class: http://www.orpha.net/ORDO/Orphanet_863 Label(s): Trichinellosis + 'Trichinellosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Parasitic myositis' + 'Trichinellosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_100069 Label(s): Semantic dementia + 'Semantic dementia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary progressive aphasia' + 'Semantic dementia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_100067 Label(s): Waterhouse-Friderichsen syndrome + 'Waterhouse-Friderichsen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_461354 Label(s): biglycan + 'biglycan' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'X-linked severe syndromic thoracic aortic aneurysm and dissection' Class: http://www.orpha.net/ORDO/Orphanet_1699 Label(s): Trisomy 12p + 'Trisomy 12p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy/tetrasomy of the short arm of chromosome 12' Class: http://www.orpha.net/ORDO/Orphanet_79140 Label(s): Cutaneous neuroendocrine carcinoma + 'Cutaneous neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare virus associated tumor' + 'Cutaneous neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Cutaneous neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' Class: http://www.orpha.net/ORDO/Orphanet_79143 Label(s): Isolated congenital anonychia + 'Isolated congenital anonychia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Isolated congenital anonychia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_79144 Label(s): Isolated congenital onychodysplasia + 'Isolated congenital onychodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_79145 Label(s): Dowling-Degos disease + 'Dowling-Degos disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of fucoglycosan synthesis' + 'Dowling-Degos disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Dowling-Degos disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Dowling-Degos disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_399805 Label(s): Male infertility with azoospermia or oligozoospermia due to single gene mutation + 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility with spermatogenesis disorder due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_485350 Label(s): CLCN4-related X-linked intellectual disability syndrome + 'CLCN4-related X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic chloride channel defect' + 'CLCN4-related X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_505395 Label(s): Ventilator-induced diaphragmatic dysfunction + 'Ventilator-induced diaphragmatic dysfunction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_178333 Label(s): Åland Islands eye disease + 'Åland Islands eye disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_874 Label(s): Primary adult heart tumor + 'Primary adult heart tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_538096 Label(s): Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy + 'Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_100057 Label(s): Renin-angiotensin-aldosterone system-blocker-induced angioedema + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired angioedema' Class: http://www.orpha.net/ORDO/Orphanet_100056 Label(s): Acquired angioedema type 1 + 'Acquired angioedema type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired angioedema with C1Inh deficiency' Class: http://www.orpha.net/ORDO/Orphanet_100055 Label(s): Acquired angioedema type 2 + 'Acquired angioedema type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired angioedema with C1Inh deficiency' Class: http://www.orpha.net/ORDO/Orphanet_100054 Label(s): F12-related hereditary angioedema with normal C1Inh + 'F12-related hereditary angioedema with normal C1Inh' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary angioedema with normal C1Inh' Class: http://www.orpha.net/ORDO/Orphanet_261600 Label(s): Alagille syndrome due to 20p12 microdeletion + 'Alagille syndrome due to 20p12 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alagille syndrome' + 'Alagille syndrome due to 20p12 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_59306 Label(s): McLeod neuroacanthocytosis syndrome + 'McLeod neuroacanthocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with epilepsy' + 'McLeod neuroacanthocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'McLeod neuroacanthocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' + 'McLeod neuroacanthocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional hemolytic anemia due to acanthocytosis' + 'McLeod neuroacanthocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroacanthocytosis' Class: http://www.orpha.net/ORDO/Orphanet_100051 Label(s): Hereditary angioedema type 2 + 'Hereditary angioedema type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary angioedema with C1Inh deficiency' Class: http://www.orpha.net/ORDO/Orphanet_100050 Label(s): Hereditary angioedema type 1 + 'Hereditary angioedema type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary angioedema with C1Inh deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79154 Label(s): 2-aminoadipic 2-oxoadipic aciduria + '2-aminoadipic 2-oxoadipic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lysine and hydroxylysine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_79159 Label(s): Isobutyryl-CoA dehydrogenase deficiency + 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' + 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic organic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_217260 Label(s): Progressive multifocal leukoencephalopathy + 'Progressive multifocal leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_98902 Label(s): Amish nemaline myopathy + 'Amish nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital nemaline myopathy' + 'Amish nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of troponin' + 'Amish nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nemaline myopathy' Class: http://www.orpha.net/ORDO/Orphanet_528105 Label(s): Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome + 'Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital alacrima' + 'Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_98904 Label(s): Congenital myopathy with excess of thin filaments + 'Congenital myopathy with excess of thin filaments' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' + 'Congenital myopathy with excess of thin filaments' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of alpha-actin' Class: http://www.orpha.net/ORDO/Orphanet_881 Label(s): Turner syndrome + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic epicanthus' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X chromosome number anomaly with female phenotype' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sex chromosome disorder of sex development' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to gonadal dysgenesis' + 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_882 Label(s): Tyrosinemia type 1 + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of tyrosine metabolism' + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_98907 Label(s): Neutral lipid storage disease with ichthyosis + 'Neutral lipid storage disease with ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Neutral lipid storage disease with ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Neutral lipid storage disease with ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neutral lipid storage disease' + 'Neutral lipid storage disease with ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' Class: http://www.orpha.net/ORDO/Orphanet_100048 Label(s): Tubular duplication of the esophagus + 'Tubular duplication of the esophagus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Duplication of the esophagus' Class: http://www.orpha.net/ORDO/Orphanet_100047 Label(s): Esophageal duplication cyst + 'Esophageal duplication cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Duplication of the esophagus' Class: http://www.orpha.net/ORDO/Orphanet_100046 Label(s): Autosomal dominant intermediate Charcot-Marie-Tooth disease type D + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_100045 Label(s): Autosomal dominant intermediate Charcot-Marie-Tooth disease type C + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_100043 Label(s): Autosomal dominant intermediate Charcot-Marie-Tooth disease type A + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_100041 Label(s): OBSOLETE: Familial pseudohyperkalemia, Cardiff type + 'OBSOLETE: Familial pseudohyperkalemia, Cardiff type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial pseudohyperkalemia' Class: http://www.orpha.net/ORDO/Orphanet_100040 Label(s): OBSOLETE: Familial pseudohyperkalemia type 2 + 'OBSOLETE: Familial pseudohyperkalemia type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial pseudohyperkalemia' Class: http://www.orpha.net/ORDO/Orphanet_211067 Label(s): Episodic ataxia type 5 + 'Episodic ataxia type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary episodic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_118908 Label(s): ATRX chromatin remodeler + 'ATRX chromatin remodeler' SubClassOf 'disease-causing somatic mutation(s) in' some 'Cushing disease' Class: http://www.orpha.net/ORDO/Orphanet_280210 Label(s): Pelizaeus-Merzbacher disease, connatal form + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pelizaeus-Merzbacher disease' Class: http://www.orpha.net/ORDO/Orphanet_67042 Label(s): Late-onset retinal degeneration + 'Late-onset retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_98914 Label(s): Presynaptic congenital myasthenic syndromes + 'Presynaptic congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myasthenic syndrome' + 'Presynaptic congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178315 Label(s): Undifferentiated embryonal sarcoma of the liver + 'Undifferentiated embryonal sarcoma of the liver' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_892 Label(s): Von Hippel-Lindau disease + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic central nervous system and retinal vascular disease' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple polyglandular tumor' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal/paraganglial tumor' + 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100039 Label(s): Familial pseudohyperkalemia type 1 + 'Familial pseudohyperkalemia type 1' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Dehydrated hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98919 Label(s): Miller Fisher syndrome + 'Miller Fisher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Regional variant of Guillain-Barré syndrome' Class: http://www.orpha.net/ORDO/Orphanet_477650 Label(s): Fibroblastic rheumatism + 'Fibroblastic rheumatism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_100035 Label(s): Solitary necrotic nodule of the liver + 'Solitary necrotic nodule of the liver' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_100034 Label(s): Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism + 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amelogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_100033 Label(s): Hypomaturation amelogenesis imperfecta + 'Hypomaturation amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amelogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_100032 Label(s): Hypocalcified amelogenesis imperfecta + 'Hypocalcified amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amelogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_100031 Label(s): Hypoplastic amelogenesis imperfecta + 'Hypoplastic amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amelogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_103909 Label(s): Trehalase deficiency + 'Trehalase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital intestinal disease due to an enzymatic defect' + 'Trehalase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of carbohydrate absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_435998 Label(s): Autosomal recessive intermediate Charcot-Marie-Tooth disease type D + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type D' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type D' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' Class: http://www.orpha.net/ORDO/Orphanet_294979 Label(s): Congenital absence of both forearm and hand + 'Congenital absence of both forearm and hand' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complete hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_79407 Label(s): Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type + 'Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant generalized dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_79408 Label(s): Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form + 'Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with corneal involvement as a major feature' + 'Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dystrophic epidermolysis bullosa' + 'Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with corneal involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_79409 Label(s): Recessive dystrophic epidermolysis bullosa inversa + 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_98922 Label(s): Blake pouch cyst + 'Blake pouch cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Posterior fossa malformation' Class: http://www.orpha.net/ORDO/Orphanet_178307 Label(s): Reticulate acropigmentation of Kitamura + 'Reticulate acropigmentation of Kitamura' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Reticulate acropigmentation of Kitamura' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_178303 Label(s): 8q22.1 microdeletion syndrome + '8q22.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '8q22.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 8' + '8q22.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_617297 Label(s): Twin-reversed arterial perfusion sequence + 'Twin-reversed arterial perfusion sequence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to unbalanced inter-twin blood transfusion' Class: http://www.orpha.net/ORDO/Orphanet_100026 Label(s): Gamma-heavy chain disease + 'Gamma-heavy chain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heavy chain disease' Class: http://www.orpha.net/ORDO/Orphanet_100025 Label(s): Alpha-heavy chain disease + 'Alpha-heavy chain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heavy chain disease' Class: http://www.orpha.net/ORDO/Orphanet_103916 Label(s): OBSOLETE: Autoimmune enteropathy type 2 + 'OBSOLETE: Autoimmune enteropathy type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic autoimmune enteropathy' Class: http://www.orpha.net/ORDO/Orphanet_100022 Label(s): Extramedullary soft tissue plasmacytoma + 'Extramedullary soft tissue plasmacytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Plasmacytoma' Class: http://www.orpha.net/ORDO/Orphanet_100021 Label(s): Primary plasmacytoma of the bone + 'Primary plasmacytoma of the bone' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Plasmacytoma' Class: http://www.orpha.net/ORDO/Orphanet_100020 Label(s): Refractory anemia with excess blasts type 2 + 'Refractory anemia with excess blasts type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Refractory anemia with excess blasts' Class: http://www.orpha.net/ORDO/Orphanet_2390 Label(s): Lichtenstein syndrome + 'Lichtenstein syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_2438 Label(s): Hand-foot-genital syndrome + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic uterovaginal malformation' + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_58220 Label(s): OBSOLETE: Microscopic colitis + 'OBSOLETE: Microscopic colitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_100019 Label(s): Refractory anemia with excess blasts type 1 + 'Refractory anemia with excess blasts type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Refractory anemia with excess blasts' Class: http://www.orpha.net/ORDO/Orphanet_498602 Label(s): Sugarman brachydactyly + 'Sugarman brachydactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_100016 Label(s): Lissencephaly with cerebellar hypoplasia type F + 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_100015 Label(s): Lissencephaly with cerebellar hypoplasia type E + 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_100014 Label(s): Lissencephaly with cerebellar hypoplasia type D + 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_100013 Label(s): Lissencephaly with cerebellar hypoplasia type C + 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_100012 Label(s): Lissencephaly with cerebellar hypoplasia type B + 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_208444 Label(s): Bilateral frontal polymicrogyria + 'Bilateral frontal polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bilateral polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_308573 Label(s): OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset + 'OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glycogen storage disease due to acid maltase deficiency, late-onset' Class: http://www.orpha.net/ORDO/Orphanet_86814 Label(s): Benign adult familial myoclonic epilepsy + 'Benign adult familial myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adolescent-onset epilepsy syndrome' + 'Benign adult familial myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary myoclonus' Class: http://www.orpha.net/ORDO/Orphanet_119066 Label(s): B-Raf proto-oncogene, serine/threonine kinase + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Cushing disease' Class: http://www.orpha.net/ORDO/Orphanet_208447 Label(s): Bilateral generalized polymicrogyria + 'Bilateral generalized polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bilateral polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_86819 Label(s): Atrichia with papular lesions + 'Atrichia with papular lesions' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Atrichia with papular lesions' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' Class: http://www.orpha.net/ORDO/Orphanet_98943 Label(s): Coloboma of eye lens + 'Coloboma of eye lens' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare lens disease' + 'Coloboma of eye lens' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic developmental defect of the eye' + 'Coloboma of eye lens' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lens and zonula anomaly' + 'Coloboma of eye lens' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_98946 Label(s): Coloboma of eyelid + 'Coloboma of eyelid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Eyelid border anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98948 Label(s): Congenital symblepharon + 'Congenital symblepharon' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated cryptophthalmia' Class: http://www.orpha.net/ORDO/Orphanet_100008 Label(s): ACys amyloidosis + 'ACys amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary cerebral hemorrhage with amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_100006 Label(s): ABeta amyloidosis, Dutch type + 'ABeta amyloidosis, Dutch type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary cerebral hemorrhage with amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_100003 Label(s): Intraneural perineurioma + 'Intraneural perineurioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Perineurioma' Class: http://www.orpha.net/ORDO/Orphanet_100001 Label(s): Sclerosing perineurioma + 'Sclerosing perineurioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extraneural perineurioma' Class: http://www.orpha.net/ORDO/Orphanet_100000 Label(s): Reticular perineurioma + 'Reticular perineurioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extraneural perineurioma' Class: http://www.orpha.net/ORDO/Orphanet_275944 Label(s): Hemolytic disease of the newborn with Kell alloimmunization + 'Hemolytic disease of the newborn with Kell alloimmunization' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic disease due to fetomaternal alloimmunization' Class: http://www.orpha.net/ORDO/Orphanet_35107 Label(s): Desmosterolosis + 'Desmosterolosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Desmosterolosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Desmosterolosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal osteosclerotic dysplasia' + 'Desmosterolosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sterol biosynthesis disorder' Class: http://www.orpha.net/ORDO/Orphanet_443070 Label(s): Hemicrania continua + 'Hemicrania continua' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Trigeminal autonomic cephalalgia' Class: http://www.orpha.net/ORDO/Orphanet_85179 Label(s): Infantile osteopetrosis with neuroaxonal dysplasia + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_506098 Label(s): Neuroendocrine carcinoma of pancreas + 'Neuroendocrine carcinoma of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine neoplasm of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_98954 Label(s): Meesmann corneal dystrophy + 'Meesmann corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' + 'Meesmann corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_75858 Label(s): MORM syndrome + 'MORM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'MORM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy' + 'MORM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'MORM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_506090 Label(s): Serotonin-producing neuroendocrine tumor of pancreas + 'Serotonin-producing neuroendocrine tumor of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning neuroendocrine tumor of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_300298 Label(s): Severe congenital hypochromic anemia with ringed sideroblasts + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional sideroblastic anemia' + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional anemia due to iron metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_163985 Label(s): Hyperekplexia-epilepsy syndrome + 'Hyperekplexia-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked intellectual disability-epilepsy syndrome' + 'Hyperekplexia-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperekplexia' + 'Hyperekplexia-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_101949 Label(s): OBSOLETE: Rare acquired eye disease + 'OBSOLETE: Rare acquired eye disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare ophthalmic disorder' Class: http://www.orpha.net/ORDO/Orphanet_163982 Label(s): X-linked intellectual disability-spastic quadriparesis syndrome + 'X-linked intellectual disability-spastic quadriparesis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Allan-Herndon-Dudley syndrome' Class: http://www.orpha.net/ORDO/Orphanet_589833 Label(s): Late-onset Steinert myotonic dystrophy + 'Late-onset Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Steinert myotonic dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_268261 Label(s): DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion + 'DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 21' + 'DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DYRK1A-related intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_589830 Label(s): Adult-onset Steinert myotonic dystrophy + 'Adult-onset Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Steinert myotonic dystrophy' + 'Adult-onset Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_308552 Label(s): Glycogen storage disease due to acid maltase deficiency, infantile onset + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to acid maltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_435953 Label(s): Progeroid features-hepatocellular carcinoma predisposition syndrome + 'Progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90156 Label(s): Centrifugal lipodystrophy + 'Centrifugal lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_86839 Label(s): Refractory anemia with excess blasts + 'Refractory anemia with excess blasts' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98960 Label(s): Thiel-Behnke corneal dystrophy + 'Thiel-Behnke corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic superficial corneal dystrophy' + 'Thiel-Behnke corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98961 Label(s): Reis-Bücklers corneal dystrophy + 'Reis-Bücklers corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic superficial corneal dystrophy' + 'Reis-Bücklers corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98963 Label(s): Granular corneal dystrophy type II + 'Granular corneal dystrophy type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98964 Label(s): Lattice corneal dystrophy type I + 'Lattice corneal dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_163979 Label(s): X-linked intellectual disability-craniofacioskeletal syndrome + 'X-linked intellectual disability-craniofacioskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-craniofacioskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_28455 Label(s): OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus + 'OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_98969 Label(s): Macular corneal dystrophy + 'Macular corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2444 Label(s): Congenital pulmonary airway malformation + 'Congenital pulmonary airway malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Congenital pulmonary airway malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_589827 Label(s): Juvenile-onset Steinert myotonic dystrophy + 'Juvenile-onset Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Steinert myotonic dystrophy' + 'Juvenile-onset Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35120 Label(s): Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency + 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pyrimidine metabolism' + 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_75840 Label(s): Congenital muscular dystrophy, Ullrich type + 'Congenital muscular dystrophy, Ullrich type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy, Ullrich type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of collagen 6' Class: http://www.orpha.net/ORDO/Orphanet_589824 Label(s): Childhood-onset Steinert myotonic dystrophy + 'Childhood-onset Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Steinert myotonic dystrophy' + 'Childhood-onset Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35123 Label(s): OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency + 'OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_589821 Label(s): Congenital-onset Steinert myotonic dystrophy + 'Congenital-onset Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Steinert myotonic dystrophy' + 'Congenital-onset Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86843 Label(s): Acute panmyelosis with myelofibrosis + 'Acute panmyelosis with myelofibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_86845 Label(s): Acute myeloid leukaemia with myelodysplasia-related features + 'Acute myeloid leukaemia with myelodysplasia-related features' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_199337 Label(s): Pancreatic insufficiency-anemia-hyperostosis syndrome + 'Pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic pancreatic disease' + 'Pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pancreatic disease' + 'Pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'Pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_401795 Label(s): Autosomal recessive spastic paraplegia type 59 + 'Autosomal recessive spastic paraplegia type 59' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_280270 Label(s): Pelizaeus-Merzbacher-like disease + 'Pelizaeus-Merzbacher-like disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_506075 Label(s): Non-functioning neuroendocrine tumor of pancreas + 'Non-functioning neuroendocrine tumor of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_98974 Label(s): Fuchs endothelial corneal dystrophy + 'Fuchs endothelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Posterior corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_31709 Label(s): Infantile convulsions and choreoathetosis + 'Infantile convulsions and choreoathetosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign partial infantile seizures' + 'Infantile convulsions and choreoathetosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' + 'Infantile convulsions and choreoathetosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paroxysmal dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_98979 Label(s): Chandler syndrome + 'Chandler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Iridocorneal endothelial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268249 Label(s): Mycophenolate mofetil embryopathy + 'Mycophenolate mofetil embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_99134 Label(s): OBSOLETE: Intermediate stomatocytosis syndrome + 'OBSOLETE: Intermediate stomatocytosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_163961 Label(s): X-linked cerebral-cerebellar-coloboma syndrome + 'X-linked cerebral-cerebellar-coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'X-linked cerebral-cerebellar-coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked cerebral-cerebellar-coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'X-linked cerebral-cerebellar-coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_435938 Label(s): X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome + 'X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_86854 Label(s): Splenic marginal zone lymphoma + 'Splenic marginal zone lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marginal zone lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_86855 Label(s): Plasmacytoma + 'Plasmacytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Plasma cell tumor' + 'Plasmacytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hematological disease associated with an acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_435934 Label(s): COG2-CDG + 'COG2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'COG2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Defect in conserved oligomeric Golgi complex' Class: http://www.orpha.net/ORDO/Orphanet_435930 Label(s): Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome + 'Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with optic disc malformation' Class: http://www.orpha.net/ORDO/Orphanet_401785 Label(s): Autosomal recessive spastic paraplegia type 62 + 'Autosomal recessive spastic paraplegia type 62' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_226313 Label(s): Congenital hypothyroidism due to maternal intake of antithyroid drugs + 'Congenital hypothyroidism due to maternal intake of antithyroid drugs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Transient congenital hypothyroidism due to maternal factor' Class: http://www.orpha.net/ORDO/Orphanet_401780 Label(s): Autosomal recessive spastic paraplegia type 61 + 'Autosomal recessive spastic paraplegia type 61' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_226310 Label(s): OBSOLETE: Peripheral hypothyroidism + 'OBSOLETE: Peripheral hypothyroidism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Permanent congenital hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_98986 Label(s): OBSOLETE: Coppock-like cataract + 'OBSOLETE: Coppock-like cataract' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pulverulent cataract' Class: http://www.orpha.net/ORDO/Orphanet_280288 Label(s): Pelizaeus-Merzbacher-like disease due to HSPD1 mutation + 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pelizaeus-Merzbacher-like disease' Class: http://www.orpha.net/ORDO/Orphanet_398961 Label(s): Mucinous adenocarcinoma of ovary + 'Mucinous adenocarcinoma of ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_163953 Label(s): X-linked intellectual disability, Raymond type + 'X-linked intellectual disability, Raymond type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Lujan-Fryns syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86861 Label(s): Non-amyloid monoclonal immunoglobulin deposition disease + 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Plasma cell tumor' + 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_91500 Label(s): Tubulointerstitial nephritis and uveitis syndrome + 'Tubulointerstitial nephritis and uveitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Tubulointerstitial nephritis and uveitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with anterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_86864 Label(s): Heavy chain disease + 'Heavy chain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Plasma cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_459033 Label(s): Ataxia-oculomotor apraxia type 4 + 'Ataxia-oculomotor apraxia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculomotor apraxia' + 'Ataxia-oculomotor apraxia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with dystonia and other neurologic or systemic manifestation' + 'Ataxia-oculomotor apraxia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic peripheral neuropathy' + 'Ataxia-oculomotor apraxia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive syndromic cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_86867 Label(s): Nodal marginal zone B-cell lymphoma + 'Nodal marginal zone B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marginal zone lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_86869 Label(s): Lymphomatoid granulomatosis + 'Lymphomatoid granulomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse large B-cell lymphoma' + 'Lymphomatoid granulomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' Class: http://www.orpha.net/ORDO/Orphanet_401777 Label(s): Optic atrophy-intellectual disability syndrome + 'Optic atrophy-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Optic atrophy-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_226307 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Central congenital hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_83595 Label(s): Colorado tick fever + 'Colorado tick fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' + 'Colorado tick fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_83594 Label(s): Eastern equine encephalitis + 'Eastern equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' + 'Eastern equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_98992 Label(s): Early-onset partial cataract + 'Early-onset partial cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_98994 Label(s): Total early-onset cataract + 'Total early-onset cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_363686 Label(s): Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_363680 Label(s): 2p13.2 microdeletion syndrome + '2p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 2' + '2p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '2p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_86871 Label(s): T-cell prolymphocytic leukemia + 'T-cell prolymphocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_86872 Label(s): T-cell large granular lymphocyte leukemia + 'T-cell large granular lymphocyte leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired neutropenia' + 'T-cell large granular lymphocyte leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Large granular lymphocyte leukemia' Class: http://www.orpha.net/ORDO/Orphanet_83642 Label(s): Microcytic anemia with liver iron overload + 'Microcytic anemia with liver iron overload' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional anemia due to iron metabolism disorder' + 'Microcytic anemia with liver iron overload' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of iron metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_401768 Label(s): Proximal myopathy with extrapyramidal signs + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-dystrophic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_401764 Label(s): Pancytopenia-developmental delay syndrome + 'Pancytopenia-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_163937 Label(s): X-linked intellectual disability, Najm type + 'X-linked intellectual disability, Najm type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'X-linked intellectual disability, Najm type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'X-linked intellectual disability, Najm type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Najm type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Najm type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'X-linked intellectual disability, Najm type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_363677 Label(s): Childhood-onset autosomal recessive myopathy with external ophthalmoplegia + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inclusion myopathy' + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' Class: http://www.orpha.net/ORDO/Orphanet_477831 Label(s): Kosaki overgrowth syndrome + 'Kosaki overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_163934 Label(s): Atopic keratoconjunctivitis + 'Atopic keratoconjunctivitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare conjunctivitis' Class: http://www.orpha.net/ORDO/Orphanet_411641 Label(s): Ocular cystinosis + 'Ocular cystinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cystinosis' + 'Ocular cystinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_569248 Label(s): Microcystic stromal tumor + 'Microcystic stromal tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare benign ovarian tumor' Class: http://www.orpha.net/ORDO/Orphanet_86882 Label(s): Hepatosplenic T-cell lymphoma + 'Hepatosplenic T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_1354 Label(s): Heart defects-limb shortening syndrome + 'Heart defects-limb shortening syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Heart defects-limb shortening syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart defects-limb shortening syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Heart defects-limb shortening syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart defects-limb shortening syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_529808 Label(s): Chronic bilirubin encephalopathy + 'Chronic bilirubin encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bilirubin encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_363665 Label(s): Acroosteolysis-keloid-like lesions-premature aging syndrome + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163921 Label(s): Posttransplant acute limbic encephalitis + 'Posttransplant acute limbic encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Encephalitis' + 'Posttransplant acute limbic encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for transplant or complication after transplantation' Class: http://www.orpha.net/ORDO/Orphanet_901 Label(s): Wells syndrome + 'Wells syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_603694 Label(s): KLHL7-related cold-induced sweating-like syndrome + 'KLHL7-related cold-induced sweating-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'KLHL7-related disorder' + 'KLHL7-related cold-induced sweating-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cold-induced sweating syndrome-hyperthermia spectrum' + 'KLHL7-related cold-induced sweating-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_1358 Label(s): Carey-Fineman-Ziter syndrome + 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_498494 Label(s): Mirror-image polydactyly + 'Mirror-image polydactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic complex polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_238468 Label(s): Hypohidrotic ectodermal dysplasia + 'Hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital alacrima' + 'Hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_86896 Label(s): Histiocytic sarcoma + 'Histiocytic sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Macrophage or histiocytic tumor' Class: http://www.orpha.net/ORDO/Orphanet_86897 Label(s): Langerhans cell sarcoma + 'Langerhans cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dendritic cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_2560 Label(s): Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome + 'Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_171695 Label(s): Parkinsonian-pyramidal syndrome + 'Parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_477817 Label(s): PMP22-RAI1 contiguous gene duplication syndrome + 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' + 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_171690 Label(s): Metabolic myopathy due to lactate transporter defect + 'Metabolic myopathy due to lactate transporter defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_163914 Label(s): OBSOLETE: Limbic encephalitis with nCMAgs antibodies + 'OBSOLETE: Limbic encephalitis with nCMAgs antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_487796 Label(s): Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome + 'Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' + 'Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_603689 Label(s): KLHL7-related Bohring-Opitz-like syndrome + 'KLHL7-related Bohring-Opitz-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'KLHL7-related Bohring-Opitz-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'KLHL7-related disorder' + 'KLHL7-related Bohring-Opitz-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_603684 Label(s): KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome + 'KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cold-induced sweating syndrome-hyperthermia spectrum' + 'KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'KLHL7-related disorder' + 'KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_413847 Label(s): major histocompatibility complex, class I, C - 'major histocompatibility complex, class I, C' SubClassOf 'major susceptibility factor in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'major histocompatibility complex, class I, C' SubClassOf 'major susceptibility factor in' some 'B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)' Class: http://www.orpha.net/ORDO/Orphanet_238455 Label(s): Infantile dystonia-parkinsonism + 'Infantile dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Infantile dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Infantile dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Infantile dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' Class: http://www.orpha.net/ORDO/Orphanet_171684 Label(s): Idiopathic bilateral vestibulopathy + 'Idiopathic bilateral vestibulopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' Class: http://www.orpha.net/ORDO/Orphanet_171680 Label(s): Lissencephaly due to TUBA1A mutation + 'Lissencephaly due to TUBA1A mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_363649 Label(s): Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome + 'Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lipodystrophy' + 'Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' Class: http://www.orpha.net/ORDO/Orphanet_569274 Label(s): Multiple mitochondrial dysfunctions syndrome type 5 + 'Multiple mitochondrial dysfunctions syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Multiple mitochondrial dysfunctions syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Multiple mitochondrial dysfunctions syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple mitochondrial dysfunctions syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163903 Label(s): OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens + 'OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_1496 Label(s): Corpus callosum agenesis-neuronopathy syndrome + 'Corpus callosum agenesis-neuronopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Corpus callosum agenesis-neuronopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Corpus callosum agenesis-neuronopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spinal muscular atrophy associated with central nervous system anomaly' + 'Corpus callosum agenesis-neuronopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Corpus callosum agenesis-neuronopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1493 Label(s): Vici syndrome + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypopigmentation of the skin' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hypopigmentation of the skin' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_411629 Label(s): Infantile nephropathic cystinosis + 'Infantile nephropathic cystinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cystinosis' + 'Infantile nephropathic cystinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Infantile nephropathic cystinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_238446 Label(s): 15q11q13 microduplication syndrome + '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 15' Class: http://www.orpha.net/ORDO/Orphanet_171673 Label(s): Limbal stem cell deficiency + 'Limbal stem cell deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare corneal disorder' Class: http://www.orpha.net/ORDO/Orphanet_521450 Label(s): LAMA5-related multisystemic syndrome + 'LAMA5-related multisystemic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' + 'LAMA5-related multisystemic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_1489 Label(s): Whooping cough + 'Whooping cough' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_1487 Label(s): Cooks syndrome + 'Cooks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' + 'Cooks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_1486 Label(s): Lethal congenital contracture syndrome type 1 + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic respiratory or mediastinal malformation' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal congenital contracture syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1485 Label(s): Arthrogryposis-hyperkeratosis syndrome, lethal form + 'Arthrogryposis-hyperkeratosis syndrome, lethal form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_1484 Label(s): Contractures-ectodermal dysplasia-cleft lip/palate syndrome + 'Contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1482 Label(s): Gonococcal conjunctivitis + 'Gonococcal conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare conjunctivitis' Class: http://www.orpha.net/ORDO/Orphanet_206492 Label(s): Vulvovaginal rhabdomyosarcoma + 'Vulvovaginal rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vulvovaginal tumor' Class: http://www.orpha.net/ORDO/Orphanet_189439 Label(s): Primary pigmented nodular adrenocortical disease + 'Primary pigmented nodular adrenocortical disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic adrenal disease' + 'Primary pigmented nodular adrenocortical disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ACTH-independent Cushing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_438178 Label(s): Fatty acyl-CoA reductase 1 deficiency + 'Fatty acyl-CoA reductase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of plasmalogens biosynthesis' + 'Fatty acyl-CoA reductase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal disease with epilepsy' + 'Fatty acyl-CoA reductase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Fatty acyl-CoA reductase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Fatty acyl-CoA reductase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_596759 Label(s): Combined immunodeficiency due to RELA haploinsufficiency + 'Combined immunodeficiency due to RELA haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to RELA haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Combined immunodeficiency due to RELA haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_481152 Label(s): PYCR2-related microcephaly-progressive leukoencephalopathy + 'PYCR2-related microcephaly-progressive leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'PYCR2-related microcephaly-progressive leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PYCR2-related microcephaly-progressive leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_251679 Label(s): Astroblastoma + 'Astroblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glial tumor of neuroepithelial tissue with unknown origin' Class: http://www.orpha.net/ORDO/Orphanet_401901 Label(s): Huntington disease-like syndrome due to C9ORF72 expansions + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with chorea' + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with dementia' + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_402041 Label(s): Autosomal recessive distal renal tubular acidosis + 'Autosomal recessive distal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Autosomal recessive distal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_251674 Label(s): Chordoid glioma + 'Chordoid glioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glial tumor of neuroepithelial tissue with unknown origin' Class: http://www.orpha.net/ORDO/Orphanet_411696 Label(s): Proton-pump inhibitor-responsive esophageal eosinophilia + 'Proton-pump inhibitor-responsive esophageal eosinophilia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary eosinophilic gastrointestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_251671 Label(s): Angiocentric glioma + 'Angiocentric glioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glial tumor of neuroepithelial tissue with unknown origin' Class: http://www.orpha.net/ORDO/Orphanet_363629 Label(s): OBSOLETE: GMPPB-related congenital muscular dystrophy + 'OBSOLETE: GMPPB-related congenital muscular dystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_404454 Label(s): Alacrimia-choreoathetosis-liver dysfunction syndrome + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic subcutaneous tissue disorder' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital alacrima' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1473 Label(s): Uveal coloboma-cleft lip and palate-intellectual disability + 'Uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' + 'Uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1471 Label(s): Coloboma of macula-brachydactyly type B syndrome + 'Coloboma of macula-brachydactyly type B syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic developmental defect of the eye' + 'Coloboma of macula-brachydactyly type B syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic macular dystrophy' + 'Coloboma of macula-brachydactyly type B syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_314029 Label(s): High bone mass osteogenesis imperfecta + 'High bone mass osteogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_314022 Label(s): Gastric adenocarcinoma and proximal polyposis of the stomach + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary gastric cancer' Class: http://www.orpha.net/ORDO/Orphanet_521432 Label(s): Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome + 'Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' + 'Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_251663 Label(s): Anaplastic oligoastrocytoma + 'Anaplastic oligoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oligoastrocytic tumor' Class: http://www.orpha.net/ORDO/Orphanet_91130 Label(s): Cardiomyopathy-hypotonia-lactic acidosis syndrome + 'Cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial substrate carrier disorder' Class: http://www.orpha.net/ORDO/Orphanet_363618 Label(s): LMNA-related cardiocutaneous progeria syndrome + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with premature aging' + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cardiac disease' + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cardiac disease' Class: http://www.orpha.net/ORDO/Orphanet_1467 Label(s): Cogan syndrome + 'Cogan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory/autoimmune corneal disorder' + 'Cogan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric vasculitis' + 'Cogan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly large-vessel vasculitis' + 'Cogan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' Class: http://www.orpha.net/ORDO/Orphanet_1466 Label(s): COFS syndrome + 'COFS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cockayne syndrome' + 'COFS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dentocutaneous disease with cataract' + 'COFS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_1464 Label(s): Univentricular heart + 'Univentricular heart' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Univentricular cardiopathy' Class: http://www.orpha.net/ORDO/Orphanet_241009 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to glibenclamide treatment + 'OBSOLETE: Susceptibility to hypoglycemia due to glibenclamide treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_1460 Label(s): Isolated complex III deficiency + 'Isolated complex III deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated oxidative phosphorylation complex disorder' Class: http://www.orpha.net/ORDO/Orphanet_438159 Label(s): STAT3-related early-onset multisystem autoimmune disease + 'STAT3-related early-onset multisystem autoimmune disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'STAT3-related early-onset multisystem autoimmune disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric systemic disease' + 'STAT3-related early-onset multisystem autoimmune disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune thrombocytopenia' + 'STAT3-related early-onset multisystem autoimmune disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' + 'STAT3-related early-onset multisystem autoimmune disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune hemolytic anemia' + 'STAT3-related early-onset multisystem autoimmune disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic autoimmune enteropathy' Class: http://www.orpha.net/ORDO/Orphanet_2256 Label(s): Fibulo-ulnar hypoplasia-renal anomalies syndrome + 'Fibulo-ulnar hypoplasia-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fibulo-ulnar hypoplasia-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Fibulo-ulnar hypoplasia-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_171647 Label(s): PBX homeobox 1 - 'PBX homeobox 1' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'PBX homeobox 1' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)' Class: http://www.orpha.net/ORDO/Orphanet_251656 Label(s): Oligoastrocytoma + 'Oligoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oligoastrocytic tumor' Class: http://www.orpha.net/ORDO/Orphanet_284400 Label(s): Small cell carcinoma of the bladder + 'Small cell carcinoma of the bladder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' + 'Small cell carcinoma of the bladder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urinary tract tumor' Class: http://www.orpha.net/ORDO/Orphanet_171640 Label(s): transcription factor 3 + 'transcription factor 3' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)' Class: http://www.orpha.net/ORDO/Orphanet_1459 Label(s): Celiac disease-epilepsy-cerebral calcification syndrome + 'Celiac disease-epilepsy-cerebral calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory and autoimmune disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1456 Label(s): Atypical coarctation of aorta + 'Atypical coarctation of aorta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aorta coarctation' Class: http://www.orpha.net/ORDO/Orphanet_1454 Label(s): Joubert syndrome with hepatic defect + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joubert syndrome and related disorders' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' Class: http://www.orpha.net/ORDO/Orphanet_1453 Label(s): Cleidorhizomelic syndrome + 'Cleidorhizomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1452 Label(s): Cleidocranial dysplasia + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleidocranial dysplasia and isolated cranial ossification defect' Class: http://www.orpha.net/ORDO/Orphanet_1451 Label(s): CINCA syndrome + 'CINCA syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with anterior uveitis' + 'CINCA syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic inflammatory or rheumatoid-like osteoarthropathy' + 'CINCA syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cryopyrin-associated periodic syndrome' + 'CINCA syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1450 Label(s): Ring chromosome 8 syndrome + 'Ring chromosome 8 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_95699 Label(s): Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XX disorder of sex development induced by fetal androgens excess' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' Class: http://www.orpha.net/ORDO/Orphanet_410073 Label(s): Germany - 'Germany' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_314002 Label(s): Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_411777 Label(s): Generalized eruptive keratoacanthoma + 'Generalized eruptive keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_412220 Label(s): OBSOLETE: Ramsay Hunt syndrome type II + 'OBSOLETE: Ramsay Hunt syndrome type II' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ramsay Hunt syndrome' Class: http://www.orpha.net/ORDO/Orphanet_521411 Label(s): Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect + 'Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of copper metabolism' + 'Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_251643 Label(s): Myxopapillary ependymoma + 'Myxopapillary ependymoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ependymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_1448 Label(s): Ring chromosome 6 syndrome + 'Ring chromosome 6 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_1446 Label(s): Ring chromosome 22 syndrome + 'Ring chromosome 22 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_122033 Label(s): GATA binding protein 3 - 'GATA binding protein 3' SubClassOf 'major susceptibility factor in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'GATA binding protein 3' SubClassOf 'major susceptibility factor in' some 'B-lymphoblastic leukemia/lymphoma with hyperdiploidy' Class: http://www.orpha.net/ORDO/Orphanet_1443 Label(s): Ring chromosome 19 syndrome + 'Ring chromosome 19 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_418951 Label(s): Undifferentiated carcinoma of esophagus + 'Undifferentiated carcinoma of esophagus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of esophagus' Class: http://www.orpha.net/ORDO/Orphanet_1441 Label(s): Ring chromosome 17 syndrome + 'Ring chromosome 17 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_438134 Label(s): PCNA-related progressive neurodegenerative photosensitivity syndrome + 'PCNA-related progressive neurodegenerative photosensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'PCNA-related progressive neurodegenerative photosensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'PCNA-related progressive neurodegenerative photosensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'PCNA-related progressive neurodegenerative photosensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'PCNA-related progressive neurodegenerative photosensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'PCNA-related progressive neurodegenerative photosensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'PCNA-related progressive neurodegenerative photosensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'PCNA-related progressive neurodegenerative photosensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'PCNA-related progressive neurodegenerative photosensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171629 Label(s): Autosomal recessive spastic paraplegia type 35 + 'Autosomal recessive spastic paraplegia type 35' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_521406 Label(s): Dystonia-parkinsonism-hypermanganesemia syndrome + 'Dystonia-parkinsonism-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Dystonia-parkinsonism-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' + 'Dystonia-parkinsonism-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of manganese transport' Class: http://www.orpha.net/ORDO/Orphanet_251639 Label(s): Subependymoma + 'Subependymoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ependymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_251636 Label(s): Ependymoma + 'Ependymoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ependymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_371364 Label(s): Hypotonia-speech impairment-severe cognitive delay syndrome + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic sodium channel defect' + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_251633 Label(s): OBSOLETE: Low-grade ependymoma + 'OBSOLETE: Low-grade ependymoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ependymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_93476 Label(s): Hurler-Scheie syndrome + 'Hurler-Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 1' + 'Hurler-Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_251630 Label(s): Anaplastic oligodendroglioma + 'Anaplastic oligodendroglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oligodendroglial tumor' Class: http://www.orpha.net/ORDO/Orphanet_93474 Label(s): Scheie syndrome + 'Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_1439 Label(s): Ring chromosome 12 syndrome + 'Ring chromosome 12 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_93471 Label(s): OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly + 'OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_93470 Label(s): OBSOLETE: Dysharmonic micromelia + 'OBSOLETE: Dysharmonic micromelia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with micromelia' Class: http://www.orpha.net/ORDO/Orphanet_1435 Label(s): Xq21 microdeletion syndrome + 'Xq21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Xq21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic chorioretinal dystrophy' + 'Xq21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_1433 Label(s): Choroidal atrophy-alopecia syndrome + 'Choroidal atrophy-alopecia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic chorioretinal dystrophy' + 'Choroidal atrophy-alopecia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206443 Label(s): Late-infantile/juvenile Krabbe disease + 'Late-infantile/juvenile Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Krabbe disease' Class: http://www.orpha.net/ORDO/Orphanet_922 Label(s): Familial nasal acilia + 'Familial nasal acilia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' + 'Familial nasal acilia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic otorhinolaryngologic disease' Class: http://www.orpha.net/ORDO/Orphanet_238269 Label(s): AApoAII amyloidosis + 'AApoAII amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary amyloidosis with primary renal involvement' Class: http://www.orpha.net/ORDO/Orphanet_93469 Label(s): OBSOLETE: Harmonic micromelia + 'OBSOLETE: Harmonic micromelia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with micromelia' Class: http://www.orpha.net/ORDO/Orphanet_93466 Label(s): OBSOLETE: Limb-girdle bone anomaly + 'OBSOLETE: Limb-girdle bone anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with limb anomaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1706 Label(s): Mosaic trisomy 15 + 'Mosaic trisomy 15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_1429 Label(s): Benign hereditary chorea + 'Benign hereditary chorea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Huntington disease-like syndrome' + 'Benign hereditary chorea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with chorea' Class: http://www.orpha.net/ORDO/Orphanet_1426 Label(s): Greenberg dysplasia + 'Greenberg dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chondrodysplasia punctata' + 'Greenberg dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sterol biosynthesis disorder' Class: http://www.orpha.net/ORDO/Orphanet_1425 Label(s): Desbuquois syndrome + 'Desbuquois syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Desbuquois syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' + 'Desbuquois syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_77299 Label(s): Microphthalmia-brain atrophy syndrome + 'Microphthalmia-brain atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia-brain atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia-brain atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Microphthalmia-brain atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Microphthalmia-brain atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_206436 Label(s): Infantile Krabbe disease + 'Infantile Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Krabbe disease' Class: http://www.orpha.net/ORDO/Orphanet_1422 Label(s): Chondrodysplasia-disorder of sex development syndrome + 'Chondrodysplasia-disorder of sex development syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Chondrodysplasia-disorder of sex development syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'Chondrodysplasia-disorder of sex development syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with micromelia' + 'Chondrodysplasia-disorder of sex development syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'Chondrodysplasia-disorder of sex development syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_1421 Label(s): OBSOLETE: Lethal chondrodysplasia, Seller type + 'OBSOLETE: Lethal chondrodysplasia, Seller type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1420 Label(s): OBSOLETE: Lethal chondrodysplasia, Moerman type + 'OBSOLETE: Lethal chondrodysplasia, Moerman type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_99001 Label(s): Butterfly-shaped pigment dystrophy + 'Butterfly-shaped pigment dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pattern dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_420566 Label(s): Bleeding disorder due to CalDAG-GEFI deficiency + 'Bleeding disorder due to CalDAG-GEFI deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a qualitative platelet defect' Class: http://www.orpha.net/ORDO/Orphanet_99003 Label(s): Multifocal pattern dystrophy simulating fundus flavimaculatus + 'Multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pattern dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_99004 Label(s): Fundus pulverulentus + 'Fundus pulverulentus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pattern dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_438114 Label(s): RARS-related autosomal recessive hypomyelinating leukodystrophy + 'RARS-related autosomal recessive hypomyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'RARS-related autosomal recessive hypomyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_251618 Label(s): Subependymal giant cell astrocytoma + 'Subependymal giant cell astrocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Low-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_251615 Label(s): Pilomyxoid astrocytoma + 'Pilomyxoid astrocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pilocytic astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_251612 Label(s): Pilocytic astrocytoma + 'Pilocytic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Low-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_93456 Label(s): OBSOLETE: Brachydactyly group + 'OBSOLETE: Brachydactyly group' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_411634 Label(s): Juvenile nephropathic cystinosis + 'Juvenile nephropathic cystinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Juvenile nephropathic cystinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cystinosis' + 'Juvenile nephropathic cystinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_93452 Label(s): OBSOLETE: Craniosynostosis syndrome or cranial ossification disease + 'OBSOLETE: Craniosynostosis syndrome or cranial ossification disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_1416 Label(s): Familial calcium pyrophosphate deposition + 'Familial calcium pyrophosphate deposition' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with defective bone mineralization' + 'Familial calcium pyrophosphate deposition' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' + 'Familial calcium pyrophosphate deposition' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_1415 Label(s): Cholestasis-pigmentary retinopathy-cleft palate syndrome + 'Cholestasis-pigmentary retinopathy-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Cholestasis-pigmentary retinopathy-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284426 Label(s): Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to lactate dehydrogenase deficiency' + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' Class: http://www.orpha.net/ORDO/Orphanet_915 Label(s): Aarskog-Scott syndrome + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_1410 Label(s): Uncombable hair syndrome + 'Uncombable hair syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_999 Label(s): Ermine phenotype + 'Ermine phenotype' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_998 Label(s): Albinism-deafness syndrome + 'Albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypopigmentation of the skin' + 'Albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hypopigmentation of the skin' + 'Albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_995 Label(s): X-linked fetal akinesia syndrome + 'X-linked fetal akinesia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Fetal akinesia deformation sequence' Class: http://www.orpha.net/ORDO/Orphanet_251607 Label(s): Pleomorphic xanthoastrocytoma + 'Pleomorphic xanthoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Low-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_251604 Label(s): Gemistocytic astrocytoma + 'Gemistocytic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_251601 Label(s): Fibrillary astrocytoma + 'Fibrillary astrocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_528091 Label(s): Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome + 'Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_261584 Label(s): Familial adenomatous polyposis due to 5q22.2 microdeletion + 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 5' + 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_1406 Label(s): Charlie M syndrome + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oromandibular-limb hypogenesis syndrome' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_53721 Label(s): Spinal arteriovenous metameric syndrome + 'Spinal arteriovenous metameric syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Spinal arteriovenous metameric syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Spinal arteriovenous metameric syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_573278 Label(s): Split cord malformation + 'Split cord malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_2826 Label(s): Spastic paraplegia-precocious puberty syndrome + 'Spastic paraplegia-precocious puberty syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_1401 Label(s): CHAND syndrome + 'CHAND syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'CHAND syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' Class: http://www.orpha.net/ORDO/Orphanet_989 Label(s): Hypoglossia-hypodactyly syndrome + 'Hypoglossia-hypodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Hypoglossia-hypodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Hypoglossia-hypodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oromandibular-limb hypogenesis syndrome' + 'Hypoglossia-hypodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Hypoglossia-hypodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypoglossia-hypodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypoglossia-hypodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99022 Label(s): OBSOLETE: Niemann-Pick disease type E + 'OBSOLETE: Niemann-Pick disease type E' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Chronic visceral acid sphingomyelinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_294986 Label(s): Apodia + 'Apodia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_984 Label(s): Pulmonary agenesis + 'Pulmonary agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Pulmonary agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_981 Label(s): Internal carotid absence + 'Internal carotid absence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Internal carotid absence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular malformation of major vessels' Class: http://www.orpha.net/ORDO/Orphanet_528084 Label(s): Non-specific syndromic intellectual disability + 'Non-specific syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intellectual disability' + 'Non-specific syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_53719 Label(s): Wyburn-Mason syndrome + 'Wyburn-Mason syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebrofacial arteriovenous metameric syndrome' + 'Wyburn-Mason syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_93435 Label(s): OBSOLETE: Moderate spondylodysplastic dysplasia + 'OBSOLETE: Moderate spondylodysplastic dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1738 Label(s): Trisomy 4p + 'Trisomy 4p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 4' Class: http://www.orpha.net/ORDO/Orphanet_261572 Label(s): OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome + 'OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Blepharophimosis-ptosis-epicanthus inversus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_909 Label(s): Cerebrotendinous xanthomatosis + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bile acid synthesis defect with cholestasis and malabsorption' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic dyslipidemia' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sterol metabolism disorder with epilepsy' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive metabolic cerebellar ataxia' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral lipidosis with dementia' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic subcutaneous tissue disorder' + 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_166113 Label(s): Bazex syndrome + 'Bazex syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Bazex syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_1387 Label(s): Cataract-intellectual disability-hypogonadism syndrome + 'Cataract-intellectual disability-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Cataract-intellectual disability-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract-intellectual disability-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract-intellectual disability-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cataract-intellectual disability-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_931 Label(s): Acheiropodia + 'Acheiropodia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_978 Label(s): ADULT syndrome + 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' + 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'EEC syndrome and related disorders' + 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_976 Label(s): Adenine phosphoribosyltransferase deficiency + 'Adenine phosphoribosyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Adenine phosphoribosyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Adenine phosphoribosyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_973 Label(s): Congenital absence/hypoplasia of fingers excluding thumb, unilateral + 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_972 Label(s): Hereditary continuous muscle fiber activity + 'Hereditary continuous muscle fiber activity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-dystrophic myopathy' + 'Hereditary continuous muscle fiber activity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic potassium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_971 Label(s): Acrorenal syndrome + 'Acrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_970 Label(s): Hereditary sensory and autonomic neuropathy type 2 + 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2206 Label(s): Ankylosing vertebral hyperostosis with tylosis + 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_411602 Label(s): Hereditary late-onset Parkinson disease + 'Hereditary late-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease with dementia' + 'Hereditary late-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic primary orthostatic hypotension' + 'Hereditary late-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Hereditary late-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary orthostatic hypotension' + 'Hereditary late-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Hereditary late-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_166100 Label(s): Autosomal dominant otospondylomegaepiphyseal dysplasia + 'Autosomal dominant otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Autosomal dominant otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with collagen disease' + 'Autosomal dominant otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Autosomal dominant otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Autosomal dominant otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 11 collagen-related bone disorder' + 'Autosomal dominant otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Autosomal dominant otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_969 Label(s): Acromicric dysplasia + 'Acromicric dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_573253 Label(s): Split cord malformation type II + 'Split cord malformation type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Split cord malformation' Class: http://www.orpha.net/ORDO/Orphanet_95626 Label(s): Acquired central diabetes insipidus + 'Acquired central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central diabetes insipidus' Class: http://www.orpha.net/ORDO/Orphanet_95625 Label(s): OBSOLETE: Posttraumatic diabetes insipidus + 'OBSOLETE: Posttraumatic diabetes insipidus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired central diabetes insipidus' Class: http://www.orpha.net/ORDO/Orphanet_95623 Label(s): OBSOLETE: Posttraumatic hypopituitarism + 'OBSOLETE: Posttraumatic hypopituitarism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Post-traumatic pituitary deficiency' Class: http://www.orpha.net/ORDO/Orphanet_95622 Label(s): OBSOLETE: Radiation-induced hypopituitarism + 'OBSOLETE: Radiation-induced hypopituitarism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Radiation-induced disorder' Class: http://www.orpha.net/ORDO/Orphanet_95621 Label(s): OBSOLETE: Postsurgical hypopituitarism + 'OBSOLETE: Postsurgical hypopituitarism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Post-traumatic pituitary deficiency' Class: http://www.orpha.net/ORDO/Orphanet_423786 Label(s): Undifferentiated carcinoma of stomach + 'Undifferentiated carcinoma of stomach' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of stomach' Class: http://www.orpha.net/ORDO/Orphanet_423781 Label(s): OBSOLETE: Carcinoma of stomach, salivary gland type + 'OBSOLETE: Carcinoma of stomach, salivary gland type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Carcinoma of esophagus, salivary gland type' Class: http://www.orpha.net/ORDO/Orphanet_920 Label(s): Ablepharon macrostomia syndrome + 'Ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microblepharon-ablephara syndrome' + 'Ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_210576 Label(s): Congenital temporomandibular joint ankylosis + 'Congenital temporomandibular joint ankylosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Temporomandibular joint anomaly' Class: http://www.orpha.net/ORDO/Orphanet_926 Label(s): Acatalasemia + 'Acatalasemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' Class: http://www.orpha.net/ORDO/Orphanet_932 Label(s): Achondrogenesis + 'Achondrogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_261552 Label(s): Mowat-Wilson syndrome due to a ZEB2 point mutation + 'Mowat-Wilson syndrome due to a ZEB2 point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mowat-Wilson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95619 Label(s): Post-traumatic pituitary deficiency + 'Post-traumatic pituitary deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_956 Label(s): Acropectororenal dysplasia + 'Acropectororenal dysplasia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Poland syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95615 Label(s): OBSOLETE: Pituitary deficiency secondary to an anevrysm + 'OBSOLETE: Pituitary deficiency secondary to an anevrysm' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pituitary hormone deficiency of vascular origin' Class: http://www.orpha.net/ORDO/Orphanet_95614 Label(s): OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage + 'OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pituitary hormone deficiency of meningeal origin' Class: http://www.orpha.net/ORDO/Orphanet_95613 Label(s): Pituitary apoplexy + 'Pituitary apoplexy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_952 Label(s): Acrofacial dysostosis, Weyers type + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Weyers type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_950 Label(s): Acrodysostosis + 'Acrodysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mandibulofacial dysostosis' + 'Acrodysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_248305 Label(s): OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency + 'OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hemolytic anemia due to a disorder of glycolytic enzymes' Class: http://www.orpha.net/ORDO/Orphanet_1762 Label(s): Proximal Xq28 duplication syndrome + 'Proximal Xq28 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome X' + 'Proximal Xq28 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Proximal Xq28 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93405 Label(s): Syndactyly type 4 + 'Syndactyly type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_93403 Label(s): Syndactyly type 2 + 'Syndactyly type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_93402 Label(s): Syndactyly type 1 + 'Syndactyly type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_1768 Label(s): Familial caudal dysgenesis + 'Familial caudal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Caudal regression-sirenomelia spectrum' + 'Familial caudal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Familial caudal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_93400 Label(s): Congenital sialidosis type 2 + 'Congenital sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sialidosis type 2' Class: http://www.orpha.net/ORDO/Orphanet_1115 Label(s): OBSOLETE: Recessive aplasia cutis congenita of limbs + 'OBSOLETE: Recessive aplasia cutis congenita of limbs' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Aplasia cutis congenita' Class: http://www.orpha.net/ORDO/Orphanet_453504 Label(s): Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation + 'Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome' Class: http://www.orpha.net/ORDO/Orphanet_443310 Label(s): OBSOLETE: HIV-related hepatocellular carcinoma + 'OBSOLETE: HIV-related hepatocellular carcinoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_945 Label(s): Acalvaria + 'Acalvaria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_99067 Label(s): Complete atrioventricular septal defect with ventricular hypoplasia + 'Complete atrioventricular septal defect with ventricular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complete atrioventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_445110 Label(s): Limb-girdle muscular dystrophy due to POMK deficiency + 'Limb-girdle muscular dystrophy due to POMK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Limb-girdle muscular dystrophy due to POMK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Limb-girdle muscular dystrophy due to POMK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' + 'Limb-girdle muscular dystrophy due to POMK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' Class: http://www.orpha.net/ORDO/Orphanet_850 Label(s): May-Hegglin thrombocytopenia + 'May-Hegglin thrombocytopenia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MYH9-related disease' Class: http://www.orpha.net/ORDO/Orphanet_958 Label(s): Acro-renal-mandibular syndrome + 'Acro-renal-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acro-renal-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1772 Label(s): 45,X/46,XY mixed gonadal dysgenesis + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sex chromosome disorder of sex development' + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gonadal dysgenesis of gynecological interest' + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Y chromosome number anomaly' + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_300305 Label(s): 11p15.4 microduplication syndrome + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 11' + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_261537 Label(s): Mowat-Wilson syndrome due to monosomy 2q22 + 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 2' + 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' + 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mowat-Wilson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99970 Label(s): Dedifferentiated liposarcoma + 'Dedifferentiated liposarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Liposarcoma' Class: http://www.orpha.net/ORDO/Orphanet_314632 Label(s): ATP13A2-related juvenile neuronal ceroid lipofuscinosis + 'ATP13A2-related juvenile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ATP13A2-related parkinsonism' + 'ATP13A2-related juvenile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_946 Label(s): OBSOLETE: Acrocephalosyndactyly + 'OBSOLETE: Acrocephalosyndactyly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_941 Label(s): D-glyceric aciduria + 'D-glyceric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glyoxylate metabolism' Class: http://www.orpha.net/ORDO/Orphanet_99070 Label(s): Aorto-right ventricular tunnel + 'Aorto-right ventricular tunnel' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aorto-ventricular tunnel' Class: http://www.orpha.net/ORDO/Orphanet_939 Label(s): 3-hydroxyisobutyric aciduria + '3-hydroxyisobutyric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic organic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_936 Label(s): Succinic acidemia + 'Succinic acidemia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Isolated complex I deficiency' Class: http://www.orpha.net/ORDO/Orphanet_935 Label(s): Short-limb skeletal dysplasia with severe combined immunodeficiency + 'Short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B- severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_2222 Label(s): Hypertrichosis lanuginosa congenita + 'Hypertrichosis lanuginosa congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hypertrichosis lanuginosa congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' Class: http://www.orpha.net/ORDO/Orphanet_3325 Label(s): Heparin-induced thrombocytopenia + 'Heparin-induced thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to an acquired coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_930 Label(s): Idiopathic achalasia + 'Idiopathic achalasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_438117 Label(s): Steel syndrome + 'Steel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_949 Label(s): Acrocraniofacial dysostosis + 'Acrocraniofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrocraniofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acrocraniofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_3327 Label(s): Thyrocerebrorenal syndrome + 'Thyrocerebrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_1120 Label(s): Lung agenesis-heart defect-thumb anomalies syndrome + 'Lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic respiratory malformation' + 'Lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic respiratory or mediastinal malformation' + 'Lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_300313 Label(s): Congenital cataract-hearing loss-severe developmental delay syndrome + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_261529 Label(s): Ring chromosome Y syndrome + 'Ring chromosome Y syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosome Y structural anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1786 Label(s): Acrofacial dysostosis, Catania type + 'Acrofacial dysostosis, Catania type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Acrofacial dysostosis, Catania type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acrofacial dysostosis, Catania type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acrofacial dysostosis, Catania type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Acrofacial dysostosis, Catania type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_953 Label(s): OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type + 'OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acromesomelic dysplasia, Maroteaux type' Class: http://www.orpha.net/ORDO/Orphanet_943 Label(s): Malonic aciduria + 'Malonic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease due to other fatty acid oxidation disorder' Class: http://www.orpha.net/ORDO/Orphanet_957 Label(s): Acropectorovertebral dysplasia + 'Acropectorovertebral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Acropectorovertebral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_79233 Label(s): Hypoxanthine guanine phosphoribosyltransferase partial deficiency + 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79234 Label(s): Crigler-Najjar syndrome type 1 + 'Crigler-Najjar syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Crigler-Najjar syndrome' Class: http://www.orpha.net/ORDO/Orphanet_929 Label(s): Achalasia-microcephaly syndrome + 'Achalasia-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic esophageal malformation' + 'Achalasia-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndromic esophageal malformation' Class: http://www.orpha.net/ORDO/Orphanet_1129 Label(s): Arachnodactyly-abnormal ossification-intellectual disability syndrome + 'Arachnodactyly-abnormal ossification-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Arachnodactyly-abnormal ossification-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Arachnodactyly-abnormal ossification-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Arachnodactyly-abnormal ossification-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_927 Label(s): Hyperammonemia due to N-acetylglutamate synthase deficiency + 'Hyperammonemia due to N-acetylglutamate synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hyperammonemia due to N-acetylglutamate synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of urea cycle metabolism and ammonia detoxification' Class: http://www.orpha.net/ORDO/Orphanet_183716 Label(s): OBSOLETE: Other complex syndrome of primary immunodeficiency + 'OBSOLETE: Other complex syndrome of primary immunodeficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_98878 Label(s): Hemophilia A + 'Hemophilia A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemophilia' Class: http://www.orpha.net/ORDO/Orphanet_183713 Label(s): Bacterial susceptibility due to TLR signaling pathway deficiency + 'Bacterial susceptibility due to TLR signaling pathway deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_921 Label(s): Abruzzo-Erickson syndrome + 'Abruzzo-Erickson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Abruzzo-Erickson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Abruzzo-Erickson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Abruzzo-Erickson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_104075 Label(s): Adenocarcinoma of the small intestine + 'Adenocarcinoma of the small intestine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of small intestine' Class: http://www.orpha.net/ORDO/Orphanet_543470 Label(s): Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome + 'Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_261519 Label(s): Maternal uniparental disomy of chromosome X + 'Maternal uniparental disomy of chromosome X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Uniparental disomy of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_448010 Label(s): CAD-CDG + 'CAD-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'CAD-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pyrimidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_1795 Label(s): Peripheral dysostosis + 'Peripheral dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_18 Label(s): Distal renal tubular acidosis + 'Distal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary renal tubular acidosis' + 'Distal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_963 Label(s): Acromegaly + 'Acromegaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Acromegaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Somatotropic adenoma' Class: http://www.orpha.net/ORDO/Orphanet_261512 Label(s): OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 + 'OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked intellectual disability-retinitis pigmentosa syndrome' Class: http://www.orpha.net/ORDO/Orphanet_965 Label(s): Acromegaloid facial appearance syndrome + 'Acromegaloid facial appearance syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cantú syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79240 Label(s): Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency + 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to phosphorylase kinase deficiency' + 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' Class: http://www.orpha.net/ORDO/Orphanet_2032 Label(s): Idiopathic pulmonary fibrosis + 'Idiopathic pulmonary fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_968 Label(s): Acromesomelic dysplasia, Hunter-Thompson type + 'Acromesomelic dysplasia, Hunter-Thompson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_918 Label(s): ABCD syndrome + 'ABCD syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Waardenburg-Shah syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183707 Label(s): Neutrophil immunodeficiency syndrome + 'Neutrophil immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional neutrophil defect' Class: http://www.orpha.net/ORDO/Orphanet_916 Label(s): Aase-Smith syndrome + 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a Dandy-Walker malformation as a major feature' + 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a Dandy-Walker malformation as a major feature' + 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_454836 Label(s): Avian influenza + 'Avian influenza' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' + 'Avian influenza' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_913 Label(s): Zollinger-Ellison syndrome + 'Zollinger-Ellison syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning neuroendocrine tumor of pancreas' + 'Zollinger-Ellison syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Duodenal neuroendocrine tumor' Class: http://www.orpha.net/ORDO/Orphanet_912 Label(s): Zellweger syndrome + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental anomaly of metabolic origin' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisome biogenesis disorder' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal disease with epilepsy' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniofacial anomaly with cataract' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_911 Label(s): Combined immunodeficiency due to ZAP70 deficiency + 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_910 Label(s): Xeroderma pigmentosum + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with entropion' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic photodermatosis' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with entropion' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary ectropion' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_959 Label(s): Acro-renal-ocular syndrome + 'Acro-renal-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Acro-renal-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_457378 Label(s): Complex lethal osteochondrodysplasia + 'Complex lethal osteochondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathy' + 'Complex lethal osteochondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_2235 Label(s): Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome + 'Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_22 Label(s): Succinic semialdehyde dehydrogenase deficiency + 'Succinic semialdehyde dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Succinic semialdehyde dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Succinic semialdehyde dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of gamma-aminobutyric acid metabolism' + 'Succinic semialdehyde dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic neurotransmission anomaly with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_300337 Label(s): OBSOLETE: Congenital blindness due to retinal non-attachment + 'OBSOLETE: Congenital blindness due to retinal non-attachment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Persistent hyperplastic primary vitreous' Class: http://www.orpha.net/ORDO/Orphanet_974 Label(s): Adams-Oliver syndrome + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic mixed dermis disorder' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_261501 Label(s): Atypical Norrie disease due to Xp11.3 microdeletion + 'Atypical Norrie disease due to Xp11.3 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_477738 Label(s): Pediatric multiple sclerosis + 'Pediatric multiple sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple sclerosis variant' Class: http://www.orpha.net/ORDO/Orphanet_79255 Label(s): GM1 gangliosidosis type 1 + 'GM1 gangliosidosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'GM1 gangliosidosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'GM1 gangliosidosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'GM1 gangliosidosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'GM1 gangliosidosis' Class: http://www.orpha.net/ORDO/Orphanet_79256 Label(s): GM1 gangliosidosis type 2 + 'GM1 gangliosidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'GM1 gangliosidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'GM1 gangliosidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'GM1 gangliosidosis' Class: http://www.orpha.net/ORDO/Orphanet_908 Label(s): Fragile X syndrome + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Motor stereotypies' Class: http://www.orpha.net/ORDO/Orphanet_906 Label(s): Wiskott-Aldrich syndrome + 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' + 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dense granule disease' + 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_905 Label(s): Wilson disease + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of copper metabolism' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Supranuclear eye movement disorder' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tremor disorder' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with dystonia and other neurologic or systemic manifestation' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic tremor disorder' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metal transport or utilization disorder with epilepsy' + 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_904 Label(s): Williams syndrome + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Motor stereotypies' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cause of hypertension' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic epicanthus' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 7' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_903 Label(s): Von Willebrand disease + 'Von Willebrand disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_902 Label(s): Werner syndrome + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary poikiloderma' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_900 Label(s): Granulomatosis with polyangiitis + 'Granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' + 'Granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory and autoimmune disease with epilepsy' + 'Granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_30 Label(s): Hereditary orotic aciduria + 'Hereditary orotic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hereditary orotic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pyrimidine metabolism' + 'Hereditary orotic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_31 Label(s): Oxoglutaric aciduria + 'Oxoglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tricarboxylic acid cycle disorder' + 'Oxoglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'Oxoglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Oxoglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2278 Label(s): Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome + 'Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_439218 Label(s): KCNQ2-related epileptic encephalopathy + 'KCNQ2-related epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'KCNQ2-related epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'KCNQ2-related epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_983 Label(s): Testicular regression syndrome + 'Testicular regression syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of gonadal development' + 'Testicular regression syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_477742 Label(s): Nodular fasciitis + 'Nodular fasciitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' + 'Nodular fasciitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_79260 Label(s): Glycogen storage disease type 1c + 'Glycogen storage disease type 1c' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib' Class: http://www.orpha.net/ORDO/Orphanet_79261 Label(s): Glycogen storage disease type 1d + 'Glycogen storage disease type 1d' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib' Class: http://www.orpha.net/ORDO/Orphanet_79262 Label(s): Adult neuronal ceroid lipofuscinosis + 'Adult neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral lipidosis with dementia' + 'Adult neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' + 'Adult neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuronal ceroid lipofuscinosis' + 'Adult neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_79263 Label(s): Infantile neuronal ceroid lipofuscinosis + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuronal ceroid lipofuscinosis' + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral lipidosis with dementia' Class: http://www.orpha.net/ORDO/Orphanet_314679 Label(s): Cerebrofacioarticular syndrome + 'Cerebrofacioarticular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebrofacioarticular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_477749 Label(s): Pontine autosomal dominant microangiopathy with leukoencephalopathy + 'Pontine autosomal dominant microangiopathy with leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy' Class: http://www.orpha.net/ORDO/Orphanet_964 Label(s): Acromegaly-cutis verticis gyrata-corneal leukoma syndrome + 'Acromegaly-cutis verticis gyrata-corneal leukoma syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pachydermoperiostosis' Class: http://www.orpha.net/ORDO/Orphanet_3343 Label(s): Toxocariasis + 'Toxocariasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_966 Label(s): Hypertrichosis-acromegaloid facial appearance syndrome + 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cantú syndrome' Class: http://www.orpha.net/ORDO/Orphanet_423717 Label(s): Cutaneous larva migrans + 'Cutaneous larva migrans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_2243 Label(s): Hypopituitarism-micropenis-cleft lip/palate syndrome + 'Hypopituitarism-micropenis-cleft lip/palate syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_369897 Label(s): Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' Class: http://www.orpha.net/ORDO/Orphanet_228340 Label(s): CLN4A disease + 'CLN4A disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adult neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_423712 Label(s): Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy + 'Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Double outlet right ventricle' Class: http://www.orpha.net/ORDO/Orphanet_2246 Label(s): Cerebellar hypoplasia-tapetoretinal degeneration syndrome + 'Cerebellar hypoplasia-tapetoretinal degeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Cerebellar hypoplasia-tapetoretinal degeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_45 Label(s): Adenosine monophosphate deaminase deficiency + 'Adenosine monophosphate deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Adenosine monophosphate deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Adenosine monophosphate deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_280071 Label(s): ALG11-CDG + 'ALG11-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'ALG11-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'ALG11-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_300359 Label(s): PLCG2-associated antibody deficiency and immune dysregulation + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric systemic disease' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed autoinflammatory and autoimmune syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1144 Label(s): Arthrogryposis-like hand anomaly-sensorineural deafness syndrome + 'Arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' + 'Arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_994 Label(s): Fetal akinesia deformation sequence + 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic respiratory or mediastinal malformation' + 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' + 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_75790 Label(s): Pollitt syndrome + 'Pollitt syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_464760 Label(s): Familial cavitary optic disc anomaly + 'Familial cavitary optic disc anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital optic disc excavation' + 'Familial cavitary optic disc anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital optic disc excavation of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_275872 Label(s): Frontotemporal dementia with motor neuron disease + 'Frontotemporal dementia with motor neuron disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal neurodegeneration with movement disorder' + 'Frontotemporal dementia with motor neuron disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic frontotemporal degeneration with dementia' + 'Frontotemporal dementia with motor neuron disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal degeneration with dementia' Class: http://www.orpha.net/ORDO/Orphanet_466794 Label(s): Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome + 'Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' + 'Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive syndromic cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_50 Label(s): Aicardi syndrome + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic chorioretinal dystrophy' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_468666 Label(s): Isolated generalized anhidrosis with normal sweat glands + 'Isolated generalized anhidrosis with normal sweat glands' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' + 'Isolated generalized anhidrosis with normal sweat glands' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic subcutaneous tissue disorder' + 'Isolated generalized anhidrosis with normal sweat glands' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' + 'Isolated generalized anhidrosis with normal sweat glands' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_251909 Label(s): Pineoblastoma + 'Pineoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pineal tumor of neuroepithelial tissue' Class: http://www.orpha.net/ORDO/Orphanet_75789 Label(s): SIBIDS syndrome + 'SIBIDS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_280325 Label(s): Distal monosomy 12p + 'Distal monosomy 12p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 12' Class: http://www.orpha.net/ORDO/Orphanet_1657 Label(s): Dermatoosteolysis, Kirghizian type + 'Dermatoosteolysis, Kirghizian type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_461215 Label(s): sterile alpha motif domain containing 9 like + 'sterile alpha motif domain containing 9 like' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_631106 Class: http://www.orpha.net/ORDO/Orphanet_1659 Label(s): Dermatoleukodystrophy + 'Dermatoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Dermatoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dermis elastic tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_308487 Label(s): Generalized galactose epimerase deficiency + 'Generalized galactose epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Galactose epimerase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79284 Label(s): Methylmalonic acidemia with homocystinuria type cblF + 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Methylmalonic acidemia with homocystinuria' Class: http://www.orpha.net/ORDO/Orphanet_275864 Label(s): Behavioral variant of frontotemporal dementia + 'Behavioral variant of frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal neurodegeneration with movement disorder' + 'Behavioral variant of frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_86904 Label(s): Methotrexate-associated lymphoproliferative disorders + 'Methotrexate-associated lymphoproliferative disorders' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency-associated lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_86909 Label(s): Myoclonic epilepsy of infancy + 'Myoclonic epilepsy of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3355 Label(s): Trichoodontoonychial dysplasia + 'Trichoodontoonychial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Trichoodontoonychial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Trichoodontoonychial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_60 Label(s): Alpha-1-antitrypsin deficiency + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serpinopathy with toxic serpin polymerization' Class: http://www.orpha.net/ORDO/Orphanet_61 Label(s): Alpha-mannosidosis + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oligosaccharidosis' + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_62 Label(s): Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 + 'Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromuscular disease with dilated cardiomyopathy' + 'Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of alpha-sarcoglycan' Class: http://www.orpha.net/ORDO/Orphanet_300373 Label(s): X-linked acrogigantism + 'X-linked acrogigantism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypothalamic or pituitary disease' + 'X-linked acrogigantism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic hypothalamic or pituitary disease' Class: http://www.orpha.net/ORDO/Orphanet_313947 Label(s): 2q23.1 microduplication syndrome + '2q23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '2q23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 2' + '2q23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2257 Label(s): Primary pulmonary hypoplasia + 'Primary pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic respiratory malformation' + 'Primary pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Primary pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_168558 Label(s): 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency + '46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic chronic primary adrenal insufficiency' + '46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' Class: http://www.orpha.net/ORDO/Orphanet_68 Label(s): Amoebiasis due to free-living amoebae + 'Amoebiasis due to free-living amoebae' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_1154 Label(s): Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome + 'Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_477774 Label(s): Combined oxidative phosphorylation defect type 27 + 'Combined oxidative phosphorylation defect type 27' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 27' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Combined oxidative phosphorylation defect type 27' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268184 Label(s): Thiamine-responsive maple syrup urine disease + 'Thiamine-responsive maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maple syrup urine disease' Class: http://www.orpha.net/ORDO/Orphanet_86915 Label(s): Lymphedema-atrial septal defects-facial changes syndrome + 'Lymphedema-atrial septal defects-facial changes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary lymphedema with systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_231720 Label(s): Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome + 'Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_86917 Label(s): OBSOLETE: Lymphedema-cleft palate syndrome + 'OBSOLETE: Lymphedema-cleft palate syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_86918 Label(s): Diffuse palmoplantar keratoderma-acrocyanosis syndrome + 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_86919 Label(s): Keratosis palmaris et plantaris-clinodactyly syndrome + 'Keratosis palmaris et plantaris-clinodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_33314 Label(s): Jessner lymphocytic infiltration of the skin + 'Jessner lymphocytic infiltration of the skin' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_955 Label(s): Hajdu-Cheney syndrome + 'Hajdu-Cheney syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Hajdu-Cheney syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' + 'Hajdu-Cheney syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric rheumatologic disease' + 'Hajdu-Cheney syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_397787 Label(s): Severe combined immunodeficiency due to IKK2 deficiency + 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T+ B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_300382 Label(s): Progeroid and marfanoid aspect-lipodystrophy syndrome + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_28378 Label(s): Tyrosinemia type 2 + 'Tyrosinemia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with corneal involvement as a major feature' + 'Tyrosinemia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of tyrosine metabolism' + 'Tyrosinemia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with corneal involvement as a major feature' + 'Tyrosinemia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Tyrosinemia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_313936 Label(s): PENS syndrome + 'PENS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'PENS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' Class: http://www.orpha.net/ORDO/Orphanet_76 Label(s): Strongyloidiasis + 'Strongyloidiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_163895 Label(s): OBSOLETE: Paraneoplastic limbic encephalitis + 'OBSOLETE: Paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_163892 Label(s): OBSOLETE: Limbic encephalitis + 'OBSOLETE: Limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_620113 Label(s): Non-syndromic unilambdoid craniosynostosis + 'Non-syndromic unilambdoid craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic unisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_453533 Label(s): Polyendocrine-polyneuropathy syndrome + 'Polyendocrine-polyneuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Polyendocrine-polyneuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' + 'Polyendocrine-polyneuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' + 'Polyendocrine-polyneuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' + 'Polyendocrine-polyneuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_81 Label(s): Antisynthetase syndrome + 'Antisynthetase syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic inflammatory myopathy' + 'Antisynthetase syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to adulthood associated with a systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_82 Label(s): Hereditary thrombophilia due to congenital antithrombin deficiency + 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serpinopathy with loss of serpin function' + 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary thrombophilia' Class: http://www.orpha.net/ORDO/Orphanet_477787 Label(s): Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder + 'Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' + 'Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a qualitative platelet defect' + 'Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_86 Label(s): Familial abdominal aortic aneurysm + 'Familial abdominal aortic aneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_2268 Label(s): ICF syndrome + 'ICF syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' + 'ICF syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1163 Label(s): Aspergillosis + 'Aspergillosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_477781 Label(s): Primary condylar hyperplasia + 'Primary condylar hyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Temporomandibular joint anomaly' Class: http://www.orpha.net/ORDO/Orphanet_313920 Label(s): Epstein-Barr virus-associated gastric carcinoma + 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr Virus-associated carcinoma' + 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of stomach' Class: http://www.orpha.net/ORDO/Orphanet_268162 Label(s): Intermediate maple syrup urine disease + 'Intermediate maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maple syrup urine disease' Class: http://www.orpha.net/ORDO/Orphanet_90654 Label(s): Stickler syndrome type 2 + 'Stickler syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Musculoskeletal disease with cataract' + 'Stickler syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 11 collagen-related bone disorder' + 'Stickler syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stickler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_263524 Label(s): Acute necrotizing encephalopathy of childhood + 'Acute necrotizing encephalopathy of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_95 Label(s): Friedreich ataxia + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebellar ataxia with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_96 Label(s): Ataxia with vitamin E deficiency + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive metabolic cerebellar ataxia' + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_97 Label(s): Familial paroxysmal ataxia + 'Familial paroxysmal ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary episodic ataxia' + 'Familial paroxysmal ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic calcium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_990 Label(s): Agnathia-holoprosencephaly-situs inversus syndrome + 'Agnathia-holoprosencephaly-situs inversus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Agnathia-holoprosencephaly-situs inversus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_991 Label(s): PAGOD syndrome + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic uterovaginal malformation' + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XX disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_453510 Label(s): Congenital insensitivity to pain with severe intellectual disability + 'Congenital insensitivity to pain with severe intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Congenital insensitivity to pain with severe intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_488239 Label(s): Acute macular neuroretinopathy + 'Acute macular neuroretinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_308442 Label(s): Vitamin B12-responsive methylmalonic acidemia, type cblDv2 + 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vitamin B12-responsive methylmalonic acidemia' Class: http://www.orpha.net/ORDO/Orphanet_435845 Label(s): Lethal neonatal spasticity-epileptic encephalopathy syndrome + 'Lethal neonatal spasticity-epileptic encephalopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_3374 Label(s): Triopia + 'Triopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Triopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_3376 Label(s): Triploidy + 'Triploidy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Triploidy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Triploidy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polyploidy' + 'Triploidy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_397758 Label(s): Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies + 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_397755 Label(s): Periodic paralysis with transient compartment-like syndrome + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Periodic paralysis' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic periodic paralysis' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic calcium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_313906 Label(s): Congenital pancreatic cyst + 'Congenital pancreatic cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pancreatic disease' + 'Congenital pancreatic cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for bowel transplant' Class: http://www.orpha.net/ORDO/Orphanet_2045 Label(s): FLOTCH syndrome + 'FLOTCH syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_397750 Label(s): Periodic paralysis with later-onset distal motor neuropathy + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Periodic paralysis' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic periodic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_1174 Label(s): Cerebellar ataxia-ectodermal dysplasia syndrome + 'Cerebellar ataxia-ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268145 Label(s): Classic maple syrup urine disease + 'Classic maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maple syrup urine disease' Class: http://www.orpha.net/ORDO/Orphanet_228426 Label(s): Syndromic multisystem autoimmune disease due to Itch deficiency + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic autoimmune enteropathy' Class: http://www.orpha.net/ORDO/Orphanet_485426 Label(s): Isolated congenital hepatic fibrosis + 'Isolated congenital hepatic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Isolated congenital hepatic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_26137 Label(s): Juvenile temporal arteritis + 'Juvenile temporal arteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly large-vessel vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_487814 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_488333 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2W + 'Autosomal dominant Charcot-Marie-Tooth disease type 2W' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_439254 Label(s): ITM2B amyloidosis + 'ITM2B amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amyloidosis' + 'ITM2B amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary amyloidosis' + 'ITM2B amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with dementia' + 'ITM2B amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_1675 Label(s): Dihydropyrimidine dehydrogenase deficiency + 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pyrimidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_397744 Label(s): Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal hereditary motor neuropathy' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_268139 Label(s): Intraocular medulloepithelioma + 'Intraocular medulloepithelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_163976 Label(s): X-linked intellectual disability, Van Esch type + 'X-linked intellectual disability, Van Esch type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Van Esch type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' + 'X-linked intellectual disability, Van Esch type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_69745 Label(s): Warty dyskeratoma + 'Warty dyskeratoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_1679 Label(s): Diphtheria + 'Diphtheria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_209905 Label(s): Brain-lung-thyroid syndrome + 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with chorea' + 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' + 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_3384 Label(s): Truncus arteriosus + 'Truncus arteriosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Conotruncal heart malformations' + 'Truncus arteriosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac malformation' Class: http://www.orpha.net/ORDO/Orphanet_397735 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2U + 'Autosomal dominant Charcot-Marie-Tooth disease type 2U' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_1182 Label(s): Spastic ataxia with congenital miosis + 'Spastic ataxia with congenital miosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Spastic ataxia with congenital miosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant spastic ataxia' + 'Spastic ataxia with congenital miosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_268129 Label(s): Spheroid body myopathy + 'Spheroid body myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myotilinopathy' Class: http://www.orpha.net/ORDO/Orphanet_2934 Label(s): Polysyndactyly-cardiac malformation syndrome + 'Polysyndactyly-cardiac malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Polysyndactyly-cardiac malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_199267 Label(s): Infantile digital fibromatosis + 'Infantile digital fibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial fibromatosis' Class: http://www.orpha.net/ORDO/Orphanet_1185 Label(s): Spinocerebellar ataxia-dysmorphism syndrome + 'Spinocerebellar ataxia-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_228407 Label(s): Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome + 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cerebrofaciothoracic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_435819 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_228402 Label(s): 2q23.1 microdeletion syndrome + '2q23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' + '2q23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 2' + '2q23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '2q23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_158008 Label(s): Papular xanthoma + 'Papular xanthoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_264955 Label(s): OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood + 'OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_308410 Label(s): Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency + 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of branched-chain amino acid metabolism' + 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_263543 Label(s): Generalized peeling skin syndrome + 'Generalized peeling skin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peeling skin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_83484 Label(s): St. Louis encephalitis + 'St. Louis encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' + 'St. Louis encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_521390 Label(s): Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome + 'Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_397725 Label(s): COASY protein-associated neurodegeneration + 'COASY protein-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'COASY protein-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_447997 Label(s): Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome + 'Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disorder due to serine deficiency' Class: http://www.orpha.net/ORDO/Orphanet_268114 Label(s): RAS-associated autoimmune leukoproliferative disease + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoid hemopathy' + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_496751 Label(s): EVEN-plus syndrome + 'EVEN-plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'EVEN-plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'EVEN-plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'EVEN-plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_26106 Label(s): Hereditary diffuse gastric cancer + 'Hereditary diffuse gastric cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary gastric cancer' + 'Hereditary diffuse gastric cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic digestive tract tumor' + 'Hereditary diffuse gastric cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic gastro-esophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_497757 Label(s): MME-related autosomal dominant Charcot Marie Tooth disease type 2 + 'MME-related autosomal dominant Charcot Marie Tooth disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'MME-related autosomal dominant Charcot Marie Tooth disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'MME-related autosomal dominant Charcot Marie Tooth disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_158019 Label(s): Indeterminate cell histiocytosis + 'Indeterminate cell histiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' + 'Indeterminate cell histiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dendritic cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_499103 Label(s): Recurrent idiopathic neuroretinitis + 'Recurrent idiopathic neuroretinitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune/inflammatory optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2292 Label(s): Congenital bowing of long bones + 'Congenital bowing of long bones' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital deformities of limbs' + 'Congenital bowing of long bones' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Campomelic dysplasia and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_83476 Label(s): West-Nile encephalitis + 'West-Nile encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' + 'West-Nile encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_284454 Label(s): Acute zonal occult outer retinopathy + 'Acute zonal occult outer retinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_83473 Label(s): Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome + 'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_83472 Label(s): CAMOS syndrome + 'CAMOS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CAMOS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CAMOS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'CAMOS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_397715 Label(s): Joubert syndrome with Jeune asphyxiating thoracic dystrophy + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joubert syndrome and related disorders' + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Short rib-polydactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1192 Label(s): Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome + 'Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' + 'Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_75563 Label(s): X-linked sideroblastic anemia + 'X-linked sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of porphyrin and heme metabolism' + 'X-linked sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_1194 Label(s): TMEM70-related mitochondrial encephalo-cardio-myopathy + 'TMEM70-related mitochondrial encephalo-cardio-myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'TMEM70-related mitochondrial encephalo-cardio-myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' Class: http://www.orpha.net/ORDO/Orphanet_1195 Label(s): Congenital atransferrinemia + 'Congenital atransferrinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of iron metabolism and transport' + 'Congenital atransferrinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional anemia due to iron metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_209932 Label(s): Cone dystrophy with supernormal rod response + 'Cone dystrophy with supernormal rod response' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_293958 Label(s): Hypertelorism-preauricular sinus-punctual pits-deafness syndrome + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_1198 Label(s): Colonic atresia + 'Colonic atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_447980 Label(s): 19p13.3 microduplication syndrome + '19p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '19p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 19' + '19p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_158029 Label(s): Sea-blue histiocytosis + 'Sea-blue histiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disease' Class: http://www.orpha.net/ORDO/Orphanet_83469 Label(s): Desmoplastic small round cell tumor + 'Desmoplastic small round cell tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary malignant peritoneal tumor' + 'Desmoplastic small round cell tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_83468 Label(s): Solitary bone cyst + 'Solitary bone cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_83463 Label(s): Microtia + 'Microtia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pinnae and external auditory canal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_83461 Label(s): Congenital primary aphakia + 'Congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental defect of the eye' + 'Congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare lens disease' + 'Congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lens and zonula anomaly' + 'Congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_466784 Label(s): Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect + 'Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial substrate carrier disorder' Class: http://www.orpha.net/ORDO/Orphanet_363558 Label(s): New-onset refractory status epilepticus + 'New-onset refractory status epilepticus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'New-onset refractory status epilepticus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adolescent-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_263558 Label(s): Peeling skin syndrome type C + 'Peeling skin syndrome type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Generalized peeling skin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96107 Label(s): Distal trisomy 20q + 'Distal trisomy 20q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy of the long arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_447977 Label(s): Progressive scapulohumeroperoneal distal myopathy + 'Progressive scapulohumeroperoneal distal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_447974 Label(s): Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome + 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' + 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_251595 Label(s): Diffuse astrocytoma + 'Diffuse astrocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Low-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_83452 Label(s): Complex regional pain syndrome + 'Complex regional pain syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_83451 Label(s): Florid cemento-osseous dysplasia + 'Florid cemento-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_363549 Label(s): Acute encephalopathy with biphasic seizures and late reduced diffusion + 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute encephalopathy with inflammation-mediated status epilepticus' Class: http://www.orpha.net/ORDO/Orphanet_1399 Label(s): Richards-Rundle syndrome + 'Richards-Rundle syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Richards-Rundle syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Richards-Rundle syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' + 'Richards-Rundle syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1398 Label(s): Isolated cerebellar agenesis + 'Isolated cerebellar agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Global cerebellar malformation' Class: http://www.orpha.net/ORDO/Orphanet_1397 Label(s): Hydrocephaly-cerebellar agenesis syndrome + 'Hydrocephaly-cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Global cerebellar malformation' + 'Hydrocephaly-cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Hydrocephaly-cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebellar malformation' Class: http://www.orpha.net/ORDO/Orphanet_209951 Label(s): Autosomal recessive spastic paraplegia type 18 + 'Autosomal recessive spastic paraplegia type 18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive spastic paraplegia type 18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_1394 Label(s): Cerebrofaciothoracic dysplasia + 'Cerebrofaciothoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebrofaciothoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebrofaciothoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_363540 Label(s): Leukoencephalopathy with mild cerebellar ataxia and white matter edema + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic chloride channel defect' + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_447964 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2V + 'Autosomal dominant Charcot-Marie-Tooth disease type 2V' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_1390 Label(s): Night blindness-skeletal anomalies-dysmorphism syndrome + 'Night blindness-skeletal anomalies-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Night blindness-skeletal anomalies-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_447961 Label(s): Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome + 'Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pigmentation anomaly of the skin' + 'Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic pigmentation anomaly of the skin' + 'Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontologic disease' Class: http://www.orpha.net/ORDO/Orphanet_988 Label(s): Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome + 'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_441344 Label(s): OBSOLETE: Autosomal recessive optic atrophy, OPA9 type + 'OBSOLETE: Autosomal recessive optic atrophy, OPA9 type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal recessive isolated optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_251589 Label(s): Anaplastic astrocytoma + 'Anaplastic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'High-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_251582 Label(s): Gliomatosis cerebri + 'Gliomatosis cerebri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'High-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_1389 Label(s): Cortical blindness-intellectual disability-polydactyly syndrome + 'Cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cortical involvement' + 'Cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' + 'Cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1698 Label(s): Mosaic trisomy 12 + 'Mosaic trisomy 12' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_363534 Label(s): Mitochondrial DNA depletion syndrome, hepatocerebrorenal form + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_1383 Label(s): Cataract-deafness-hypogonadism syndrome + 'Cataract-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cataract-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Cataract-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_447954 Label(s): Combined oxidative phosphorylation defect type 25 + 'Combined oxidative phosphorylation defect type 25' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Combined oxidative phosphorylation defect type 25' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 25' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_1380 Label(s): Cataract-nephropathy-encephalopathy syndrome + 'Cataract-nephropathy-encephalopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cataract-nephropathy-encephalopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Cataract-nephropathy-encephalopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Cataract-nephropathy-encephalopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Cataract-nephropathy-encephalopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_158057 Label(s): Acquired hemophagocytic lymphohistiocytosis associated with malignant disease + 'Acquired hemophagocytic lymphohistiocytosis associated with malignant disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary hemophagocytic lymphohistiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_438075 Label(s): Ketoacidosis due to monocarboxylate transporter-1 deficiency + 'Ketoacidosis due to monocarboxylate transporter-1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of keton body transport' Class: http://www.orpha.net/ORDO/Orphanet_251579 Label(s): Giant cell glioblastoma + 'Giant cell glioblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glioblastoma' Class: http://www.orpha.net/ORDO/Orphanet_251576 Label(s): Gliosarcoma + 'Gliosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glioblastoma' Class: http://www.orpha.net/ORDO/Orphanet_201163 Label(s): immunoglobulin heavy locus - 'immunoglobulin heavy locus' SubClassOf 'disease-causing somatic mutation(s) in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'immunoglobulin heavy locus' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)' Class: http://www.orpha.net/ORDO/Orphanet_97214 Label(s): Eisenmenger syndrome + 'Eisenmenger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary arterial hypertension associated with congenital heart disease' Class: http://www.orpha.net/ORDO/Orphanet_411593 Label(s): Insulin autoimmune syndrome + 'Insulin autoimmune syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperinsulinemic hypoglycaemia' Class: http://www.orpha.net/ORDO/Orphanet_53696 Label(s): Arthrogryposis-anterior horn cell disease syndrome + 'Arthrogryposis-anterior horn cell disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_411590 Label(s): Wolfram-like syndrome + 'Wolfram-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'Wolfram-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Wolfram-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare diabetes mellitus type 1' + 'Wolfram-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_1377 Label(s): Cataract-microcornea syndrome + 'Cataract-microcornea syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Cataract-microcornea syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_363523 Label(s): Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_53690 Label(s): Congenital lactase deficiency + 'Congenital lactase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital intestinal disease due to an enzymatic defect' + 'Congenital lactase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of carbohydrate absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_171201 Label(s): OBSOLETE: High isolated anorectal malformation + 'OBSOLETE: High isolated anorectal malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_238329 Label(s): Severe X-linked mitochondrial encephalomyopathy + 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_617919 Label(s): F12-associated cold autoinflammatory syndrome + 'F12-associated cold autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cryopyrin-associated periodic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_83420 Label(s): Proximal spinal muscular atrophy type 4 + 'Proximal spinal muscular atrophy type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_53689 Label(s): Congenital chloride diarrhea + 'Congenital chloride diarrhea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital intestinal transport defect' Class: http://www.orpha.net/ORDO/Orphanet_1368 Label(s): Cataract-ataxia-deafness syndrome + 'Cataract-ataxia-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Cataract-ataxia-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cataract-ataxia-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Cataract-ataxia-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_166081 Label(s): Von Willebrand disease type 2 + 'Von Willebrand disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Von Willebrand disease' Class: http://www.orpha.net/ORDO/Orphanet_101151 Label(s): Dystonia 14 + 'Dystonia 14' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant dopa-responsive dystonia' Class: http://www.orpha.net/ORDO/Orphanet_171215 Label(s): OBSOLETE: Low isolated anorectal malformation + 'OBSOLETE: Low isolated anorectal malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_65286 Label(s): 3q29 microdeletion syndrome + '3q29 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 3' Class: http://www.orpha.net/ORDO/Orphanet_C004 Label(s): prevalence - 'prevalence' SubClassOf 'epidemiology' Class: http://www.orpha.net/ORDO/Orphanet_525738 Label(s): Prepubertal anorexia nervosa + 'Prepubertal anorexia nervosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypothalamic or pituitary disease' + 'Prepubertal anorexia nervosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' Class: http://www.orpha.net/ORDO/Orphanet_55881 Label(s): Adamantinoma + 'Adamantinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_55880 Label(s): Chondrosarcoma + 'Chondrosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bone sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_93399 Label(s): Juvenile sialidosis type 2 + 'Juvenile sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sialidosis type 2' Class: http://www.orpha.net/ORDO/Orphanet_93398 Label(s): Genochondromatosis type 2 + 'Genochondromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_525731 Label(s): Pediatric-onset Graves disease + 'Pediatric-onset Graves disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hyperthyroidism' Class: http://www.orpha.net/ORDO/Orphanet_93395 Label(s): Ballard syndrome + 'Ballard syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Brachydactyly type E' Class: http://www.orpha.net/ORDO/Orphanet_93394 Label(s): Brachydactyly type A4 + 'Brachydactyly type A4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_1359 Label(s): Carney complex + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cardiac tumor' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac tumor' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal/paraganglial tumor' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with Cushing syndrome as a major feature' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple polyglandular tumor' Class: http://www.orpha.net/ORDO/Orphanet_309020 Label(s): Familial apolipoprotein C-II deficiency + 'Familial apolipoprotein C-II deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial chylomicronemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206580 Label(s): Autosomal recessive lower motor neuron disease with childhood onset + 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Generalized bulbospinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_1355 Label(s): Congenital heart defect-round face-developmental delay syndrome + 'Congenital heart defect-round face-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital heart defect-round face-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_453499 Label(s): Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome + 'Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' + 'Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1352 Label(s): Atrioventricular defect-blepharophimosis-radial and anal defect syndrome + 'Atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' Class: http://www.orpha.net/ORDO/Orphanet_1350 Label(s): Heart-hand syndrome type 2 + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heart-hand syndrome' + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_238305 Label(s): Infundibulo-neurohypophysitis + 'Infundibulo-neurohypophysitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary hypophysitis' Class: http://www.orpha.net/ORDO/Orphanet_570431 Label(s): Idiopathic multicentric Castleman disease + 'Idiopathic multicentric Castleman disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Castleman disease' Class: http://www.orpha.net/ORDO/Orphanet_423894 Label(s): Microcephaly-complex motor and sensory axonal neuropathy syndrome + 'Microcephaly-complex motor and sensory axonal neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_570438 Label(s): HHV-8-associated multicentric Castleman disease + 'HHV-8-associated multicentric Castleman disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Human herpesvirus 8-related disorder' + 'HHV-8-associated multicentric Castleman disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Castleman disease' Class: http://www.orpha.net/ORDO/Orphanet_93389 Label(s): Brachydactyly type A5 + 'Brachydactyly type A5' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Brachydactyly type B' Class: http://www.orpha.net/ORDO/Orphanet_93388 Label(s): Brachydactyly type A1 + 'Brachydactyly type A1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_93387 Label(s): Brachydactyly type E + 'Brachydactyly type E' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_93384 Label(s): Brachydactyly type C + 'Brachydactyly type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_93383 Label(s): Brachydactyly type B + 'Brachydactyly type B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_93382 Label(s): Brachydactyly type A6 + 'Brachydactyly type A6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromesomelic dysplasia' + 'Brachydactyly type A6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_166063 Label(s): Pontocerebellar hypoplasia type 4 + 'Pontocerebellar hypoplasia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_1344 Label(s): Atrial standstill + 'Atrial standstill' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial restrictive cardiomyopathy' + 'Atrial standstill' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_1342 Label(s): Heart-hand syndrome type 3 + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heart-hand syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293462 Label(s): Pre-Descemet corneal dystrophy + 'Pre-Descemet corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_521308 Label(s): Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome + 'Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_99995 Label(s): Complex regional pain syndrome type 1 + 'Complex regional pain syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex regional pain syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99994 Label(s): Complex regional pain syndrome type 2 + 'Complex regional pain syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex regional pain syndrome' Class: http://www.orpha.net/ORDO/Orphanet_521305 Label(s): Proximal myopathy with focal depletion of mitochondria + 'Proximal myopathy with focal depletion of mitochondria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-dystrophic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_485421 Label(s): MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect + 'MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Encephalopathy due to mitochondrial and peroxisomal fission defect' Class: http://www.orpha.net/ORDO/Orphanet_99990 Label(s): Brill-Zinsser disease + 'Brill-Zinsser disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidemic typhus' Class: http://www.orpha.net/ORDO/Orphanet_529831 Label(s): Letrozole toxicity + 'Letrozole toxicity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_93372 Label(s): Familial hypocalciuric hypercalcemia type 1 + 'Familial hypocalciuric hypercalcemia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial hypocalciuric hypercalcemia' Class: http://www.orpha.net/ORDO/Orphanet_1338 Label(s): Heart defect-tongue hamartoma-polysyndactyly syndrome + 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_228349 Label(s): CLN2 disease + 'CLN2 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN2 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_1334 Label(s): Chronic mucocutaneous candidiasis + 'Chronic mucocutaneous candidiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Chronic mucocutaneous candidiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' + 'Chronic mucocutaneous candidiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_1333 Label(s): Familial pancreatic carcinoma + 'Familial pancreatic carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic pancreatic disease' + 'Familial pancreatic carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare carcinoma of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_603515 Label(s): Isolated female hypospadias + 'Isolated female hypospadias' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of female' Class: http://www.orpha.net/ORDO/Orphanet_1331 Label(s): Familial prostate cancer + 'Familial prostate cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urinary tract tumor' + 'Familial prostate cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic urogenital tumor' + 'Familial prostate cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic urogenital disease' Class: http://www.orpha.net/ORDO/Orphanet_1330 Label(s): Partial atrioventricular septal defect + 'Partial atrioventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atrioventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_485418 Label(s): EMILIN-1-related connective tissue disease + 'EMILIN-1-related connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary systemic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_99987 Label(s): OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome + 'OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anophthalmia/microphthalmia-esophageal atresia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99986 Label(s): OBSOLETE: Familial restrictive cardiomyopathy type 2 + 'OBSOLETE: Familial restrictive cardiomyopathy type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_99985 Label(s): OBSOLETE: Familial restrictive cardiomyopathy type 1 + 'OBSOLETE: Familial restrictive cardiomyopathy type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_401862 Label(s): Lipoyl transferase 1 deficiency + 'Lipoyl transferase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lipoic acid biosynthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_1800 Label(s): OBSOLETE: Craniofaciocervical osteoglyphic dysplasia + 'OBSOLETE: Craniofaciocervical osteoglyphic dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_251523 Label(s): Hyperzincemia and hypercalprotectinemia + 'Hyperzincemia and hypercalprotectinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of zinc metabolism and transport' + 'Hyperzincemia and hypercalprotectinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome of childhood' + 'Hyperzincemia and hypercalprotectinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome' + 'Hyperzincemia and hypercalprotectinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Hyperzincemia and hypercalprotectinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'Hyperzincemia and hypercalprotectinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_401869 Label(s): Multiple mitochondrial dysfunctions syndrome type 1 + 'Multiple mitochondrial dysfunctions syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple mitochondrial dysfunctions syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309246 Label(s): GM2 gangliosidosis, AB variant + 'GM2 gangliosidosis, AB variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'GM2 gangliosidosis' Class: http://www.orpha.net/ORDO/Orphanet_1804 Label(s): Dyssegmental dysplasia-glaucoma syndrome + 'Dyssegmental dysplasia-glaucoma syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Dyssegmental dysplasia, Rolland-Desbuquois type' Class: http://www.orpha.net/ORDO/Orphanet_411543 Label(s): Severe phosphoribosylpyrophosphate synthetase superactivity + 'Severe phosphoribosylpyrophosphate synthetase superactivity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Phosphoribosylpyrophosphate synthetase superactivity' Class: http://www.orpha.net/ORDO/Orphanet_1806 Label(s): Ectodermal dysplasia-blindness syndrome + 'Ectodermal dysplasia-blindness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Ectodermal dysplasia-blindness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1326 Label(s): Camptodactyly syndrome, Guadalajara type 2 + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_1325 Label(s): Camptodactyly-taurinuria syndrome + 'Camptodactyly-taurinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb malformations as a major feature' + 'Camptodactyly-taurinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb malformations as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1323 Label(s): Camptodactyly-joint contractures-facial skeletal defects syndrome + 'Camptodactyly-joint contractures-facial skeletal defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly-joint contractures-facial skeletal defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Camptodactyly-joint contractures-facial skeletal defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with limb anomaly as a major feature' + 'Camptodactyly-joint contractures-facial skeletal defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1321 Label(s): Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome + 'Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with limb anomaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1320 Label(s): Idiopathic camptocormia + 'Idiopathic camptocormia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_99103 Label(s): Atrial septal defect, ostium secundum type + 'Atrial septal defect, ostium secundum type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Interatrial communication' Class: http://www.orpha.net/ORDO/Orphanet_99978 Label(s): Klatskin tumor + 'Klatskin tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of gallbladder and extrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_99976 Label(s): Adenocarcinoma of the esophagus + 'Adenocarcinoma of the esophagus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of esophagus' Class: http://www.orpha.net/ORDO/Orphanet_485405 Label(s): 16p12.1p12.3 triplication syndrome + '16p12.1p12.3 triplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '16p12.1p12.3 triplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '16p12.1p12.3 triplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_99974 Label(s): OBSOLETE: TACI-related selective deficiency of IgA + 'OBSOLETE: TACI-related selective deficiency of IgA' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_99973 Label(s): OBSOLETE: Immunoglobulin A2 deficiency + 'OBSOLETE: Immunoglobulin A2 deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_99971 Label(s): Well-differentiated liposarcoma + 'Well-differentiated liposarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Liposarcoma' Class: http://www.orpha.net/ORDO/Orphanet_93359 Label(s): Spondyloepimetaphyseal dysplasia with joint laxity + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosylglycan synthesis' Class: http://www.orpha.net/ORDO/Orphanet_93358 Label(s): Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome + 'Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_411536 Label(s): Mild phosphoribosylpyrophosphate synthetase superactivity + 'Mild phosphoribosylpyrophosphate synthetase superactivity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Phosphoribosylpyrophosphate synthetase superactivity' Class: http://www.orpha.net/ORDO/Orphanet_93356 Label(s): Spondyloepimetaphyseal dysplasia, Missouri type + 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_251510 Label(s): 46,XY partial gonadal dysgenesis + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gonadal dysgenesis of gynecological interest' + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of gonadal development' + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to gonadal dysgenesis' + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_166038 Label(s): Metaphyseal chondrodysplasia, Kaitila type + 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_261494 Label(s): Kleefstra syndrome + 'Kleefstra syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kleefstra syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93351 Label(s): Spondyloepimetaphyseal dysplasia, Irapa type + 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1819 Label(s): OBSOLETE: Epimetaphyseal skeletal dysplasia + 'OBSOLETE: Epimetaphyseal skeletal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_166032 Label(s): Multiple epiphyseal dysplasia, with miniepiphyses + 'Multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1313 Label(s): Infantile choroidocerebral calcification syndrome + 'Infantile choroidocerebral calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Infantile choroidocerebral calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Infantile choroidocerebral calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_899 Label(s): Walker-Warburg syndrome + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with developmental anomaly' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic vitreoretinopathy' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of fukutin' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'Walker-Warburg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of FKRP' Class: http://www.orpha.net/ORDO/Orphanet_898 Label(s): Wagner disease + 'Wagner disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_896 Label(s): Waardenburg syndrome type 3 + 'Waardenburg syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Waardenburg syndrome' + 'Waardenburg syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic telecanthus' Class: http://www.orpha.net/ORDO/Orphanet_895 Label(s): Waardenburg syndrome type 2 + 'Waardenburg syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Waardenburg syndrome' Class: http://www.orpha.net/ORDO/Orphanet_894 Label(s): Waardenburg syndrome type 1 + 'Waardenburg syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Waardenburg syndrome' + 'Waardenburg syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic telecanthus' Class: http://www.orpha.net/ORDO/Orphanet_893 Label(s): WAGR syndrome + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic aniridia' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 11' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' + 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_99965 Label(s): O'Sullivan-McLeod syndrome + 'O'Sullivan-McLeod syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_891 Label(s): Familial exudative vitreoretinopathy + 'Familial exudative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'Familial exudative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic central nervous system and retinal vascular disease' + 'Familial exudative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' + 'Familial exudative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' + 'Familial exudative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_890 Label(s): Hepatic veno-occlusive disease + 'Hepatic veno-occlusive disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Hepatic veno-occlusive disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular liver disease' Class: http://www.orpha.net/ORDO/Orphanet_569816 Label(s): CELSR1-related late-onset primary lymphedema + 'CELSR1-related late-onset primary lymphedema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late-onset primary lymphedema without systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_411527 Label(s): Central retinal vein occlusion + 'Central retinal vein occlusion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_93347 Label(s): Anauxetic dysplasia + 'Anauxetic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93346 Label(s): Spondyloepimetaphyseal dysplasia congenita, Strudwick type + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_166029 Label(s): Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia + 'Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1826 Label(s): Frontometaphyseal dysplasia + 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' + 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Otopalatodigital syndrome spectrum disorder' + 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_261483 Label(s): Xq27.3q28 duplication syndrome + 'Xq27.3q28 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_1307 Label(s): Distal limb deficiencies-micrognathia syndrome + 'Distal limb deficiencies-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Distal limb deficiencies-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 10' + 'Distal limb deficiencies-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_166024 Label(s): Multiple epiphyseal dysplasia, Al-Gazali type + 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1305 Label(s): Feingold syndrome + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndromic esophageal malformation' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic esophageal malformation' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic gastroduodenal malformation' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_1304 Label(s): Brucellosis + 'Brucellosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_1303 Label(s): Bronchiolitis obliterans with obstructive pulmonary disease + 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for lung transplant' Class: http://www.orpha.net/ORDO/Orphanet_91139 Label(s): Simple cryoglobulinemia + 'Simple cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Simple cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'Simple cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to an acquired coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_91138 Label(s): Cryoglobulinemic vasculitis + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune complex mediated vasculitis' + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric vasculitis' + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_889 Label(s): Cutaneous small vessel vasculitis + 'Cutaneous small vessel vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune complex mediated vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_888 Label(s): Van der Woude syndrome + 'Van der Woude syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Van der Woude syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Van der Woude syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_887 Label(s): VACTERL/VATER association + 'VACTERL/VATER association' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'VACTERL/VATER association' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'VACTERL/VATER association' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic esophageal malformation' + 'VACTERL/VATER association' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_91133 Label(s): OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome + 'OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome' Class: http://www.orpha.net/ORDO/Orphanet_91132 Label(s): Ichthyosis-hypotrichosis syndrome + 'Ichthyosis-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Ichthyosis-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' + 'Ichthyosis-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_884 Label(s): Tetrasomy 12p + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy/tetrasomy of the short arm of chromosome 12' + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal disease with overgrowth' + 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_883 Label(s): Extragonadal teratoma + 'Extragonadal teratoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal non-dysgerminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_183672 Label(s): OBSOLETE: Common variable immunodeficiency due to TNFR deficiency + 'OBSOLETE: Common variable immunodeficiency due to TNFR deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_99954 Label(s): Charcot-Marie-Tooth disease type 4H + 'Charcot-Marie-Tooth disease type 4H' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_99953 Label(s): Charcot-Marie-Tooth disease type 4G + 'Charcot-Marie-Tooth disease type 4G' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_99952 Label(s): Charcot-Marie-Tooth disease type 4F + 'Charcot-Marie-Tooth disease type 4F' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_99951 Label(s): Charcot-Marie-Tooth disease type 4E + 'Charcot-Marie-Tooth disease type 4E' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_99950 Label(s): Charcot-Marie-Tooth disease type 4D + 'Charcot-Marie-Tooth disease type 4D' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_93338 Label(s): Polysyndactyly + 'Polysyndactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_93337 Label(s): Polydactyly of an index finger + 'Polydactyly of an index finger' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_71275 Label(s): Rh deficiency syndrome + 'Rh deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_261476 Label(s): Xp21 deletion syndrome + 'Xp21 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycerol kinase deficiency' + 'Xp21 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal hypoplasia congenita' + 'Xp21 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_411511 Label(s): Angelman syndrome due to a point mutation + 'Angelman syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Angelman syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166016 Label(s): Multiple epiphyseal dysplasia, Lowry type + 'Multiple epiphyseal dysplasia, Lowry type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_453521 Label(s): Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency + 'Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_2563 Label(s): MOMO syndrome + 'MOMO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_166011 Label(s): Multiple epiphyseal dysplasia, Beighton type + 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_91129 Label(s): Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome + 'Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Matthew-Wood syndrome' Class: http://www.orpha.net/ORDO/Orphanet_91128 Label(s): OBSOLETE: Graft rejection after lung transplantation + 'OBSOLETE: Graft rejection after lung transplantation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Complication after organ transplantation' Class: http://www.orpha.net/ORDO/Orphanet_91127 Label(s): Adenovirus infection in immunocompromised patients + 'Adenovirus infection in immunocompromised patients' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_183666 Label(s): Hyper-IgM syndrome without susceptibility to opportunistic infections + 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_875 Label(s): Primary pediatric heart tumor + 'Primary pediatric heart tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_99947 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2A2 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_873 Label(s): Desmoid tumor + 'Desmoid tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_99945 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2L + 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_871 Label(s): Familial progressive cardiac conduction defect + 'Familial progressive cardiac conduction defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_870 Label(s): Down syndrome + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic epicanthus' + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic keratoconus' + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic keratoconus' + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic outer canthal malposition' + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary ectropion' Class: http://www.orpha.net/ORDO/Orphanet_99942 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2I + 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_99941 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2G + 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_423693 Label(s): Double outlet right ventricle with subaortic or doubly committed ventricular septal defect + 'Double outlet right ventricle with subaortic or doubly committed ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Double outlet right ventricle' Class: http://www.orpha.net/ORDO/Orphanet_93329 Label(s): Autosomal recessive omodysplasia + 'Autosomal recessive omodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Omodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_611247 Label(s): Pontocerebellar hypoplasia type 11 + 'Pontocerebellar hypoplasia type 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pontocerebellar hypoplasia type 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93325 Label(s): Autosomal dominant Kenny-Caffey syndrome + 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Kenny-Caffey syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93323 Label(s): Fibular hemimelia + 'Fibular hemimelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_411501 Label(s): Williams-Campbell syndrome + 'Williams-Campbell syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Williams-Campbell syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_93320 Label(s): Ulnar hemimelia + 'Ulnar hemimelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_166002 Label(s): Multiple epiphyseal dysplasia due to collagen 9 anomaly + 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_314709 Label(s): Primary localized amyloidosis + 'Primary localized amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'AL amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_869 Label(s): Triple A syndrome + 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary disease with peripheral neuropathy' + 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic chronic primary adrenal insufficiency' + 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic esophageal malformation' + 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital alacrima' + 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndromic esophageal malformation' Class: http://www.orpha.net/ORDO/Orphanet_868 Label(s): Triose phosphate-isomerase deficiency + 'Triose phosphate-isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Energy metabolism disorder with epilepsy' + 'Triose phosphate-isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Triose phosphate-isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Triose phosphate-isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycolysis' Class: http://www.orpha.net/ORDO/Orphanet_867 Label(s): Familial multiple trichoepithelioma + 'Familial multiple trichoepithelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brooke-Spiegler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99939 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2E + 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_864 Label(s): Trichofolliculoma + 'Trichofolliculoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_99936 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2B + 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_99934 Label(s): Pleuropulmonary blastoma type 2 + 'Pleuropulmonary blastoma type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pleuropulmonary blastoma' Class: http://www.orpha.net/ORDO/Orphanet_99933 Label(s): Pleuropulmonary blastoma type 1 + 'Pleuropulmonary blastoma type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pleuropulmonary blastoma' Class: http://www.orpha.net/ORDO/Orphanet_99931 Label(s): Idiopathic pulmonary hemosiderosis + 'Idiopathic pulmonary hemosiderosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease in childhood and adulthood' Class: http://www.orpha.net/ORDO/Orphanet_99930 Label(s): Secondary pulmonary hemosiderosis + 'Secondary pulmonary hemosiderosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease in childhood and adulthood' Class: http://www.orpha.net/ORDO/Orphanet_93317 Label(s): Spondylometaphyseal dysplasia, Sedaghatian type + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93315 Label(s): Spondylometaphyseal dysplasia, 'corner fracture' type + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93314 Label(s): Spondylometaphyseal dysplasia, Kozlowski type + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'TRPV4-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_93313 Label(s): OBSOLETE: Multiple epiphyseal dysplasia, unclassified type + 'OBSOLETE: Multiple epiphyseal dysplasia, unclassified type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_529864 Label(s): Secondary erythromelalgia + 'Secondary erythromelalgia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_488280 Label(s): 14q32 duplication syndrome + '14q32 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloproliferative neoplasm' + '14q32 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_79301 Label(s): Congenital bile acid synthesis defect type 1 + 'Congenital bile acid synthesis defect type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital bile acid synthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_858 Label(s): Congenital toxoplasmosis + 'Congenital toxoplasmosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' + 'Congenital toxoplasmosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' + 'Congenital toxoplasmosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_857 Label(s): Townes-Brocks syndrome + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Otomandibular dysplasia associated with monogenic syndromes' + 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_99928 Label(s): Placental site trophoblastic tumor + 'Placental site trophoblastic tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gestational trophoblastic neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_854 Label(s): Primitive portal vein thrombosis + 'Primitive portal vein thrombosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular liver disease' Class: http://www.orpha.net/ORDO/Orphanet_95513 Label(s): Panhypophysitis + 'Panhypophysitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary hypophysitis' Class: http://www.orpha.net/ORDO/Orphanet_852 Label(s): X-linked thrombocytopenia with normal platelets + 'X-linked thrombocytopenia with normal platelets' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary thrombocytopenia with normal platelets' Class: http://www.orpha.net/ORDO/Orphanet_851 Label(s): Paris-Trousseau thrombocytopenia + 'Paris-Trousseau thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 11' + 'Paris-Trousseau thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha granule disease' Class: http://www.orpha.net/ORDO/Orphanet_99922 Label(s): Ocular cicatricial pemphigoid + 'Ocular cicatricial pemphigoid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_99921 Label(s): Chronic graft versus host disease + 'Chronic graft versus host disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Graft versus host disease' Class: http://www.orpha.net/ORDO/Orphanet_99920 Label(s): Acute graft versus host disease + 'Acute graft versus host disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Graft versus host disease' Class: http://www.orpha.net/ORDO/Orphanet_1860 Label(s): Thanatophoric dysplasia type 1 + 'Thanatophoric dysplasia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thanatophoric dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93308 Label(s): Multiple epiphyseal dysplasia type 1 + 'Multiple epiphyseal dysplasia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93307 Label(s): Multiple epiphyseal dysplasia type 4 + 'Multiple epiphyseal dysplasia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sulfation-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_93304 Label(s): Autosomal dominant brachyolmia + 'Autosomal dominant brachyolmia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'TRPV4-related bone disorder' + 'Autosomal dominant brachyolmia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brachyolmia' Class: http://www.orpha.net/ORDO/Orphanet_93303 Label(s): Brachyolmia type 1, Toledo type + 'Brachyolmia type 1, Toledo type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive brachyolmia' Class: http://www.orpha.net/ORDO/Orphanet_314721 Label(s): Atypical dentin dysplasia due to SMOC2 deficiency + 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dentin dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93301 Label(s): Brachyolmia type 1, Hobaek type + 'Brachyolmia type 1, Hobaek type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal recessive brachyolmia' Class: http://www.orpha.net/ORDO/Orphanet_138451 Label(s): telomerase reverse transcriptase + 'telomerase reverse transcriptase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Adrenocortical carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_79310 Label(s): Vitamin B12-responsive methylmalonic acidemia type cblA + 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vitamin B12-responsive methylmalonic acidemia' Class: http://www.orpha.net/ORDO/Orphanet_977 Label(s): Adrenomyodystrophy + 'Adrenomyodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_849 Label(s): Glanzmann thrombasthenia + 'Glanzmann thrombasthenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a qualitative platelet defect' Class: http://www.orpha.net/ORDO/Orphanet_848 Label(s): Beta-thalassemia + 'Beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beta-thalassemia and related diseases' + 'Beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hematological disorder with renal involvement' + 'Beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency secondary to storage disease' Class: http://www.orpha.net/ORDO/Orphanet_95507 Label(s): Congenital anomaly of hepatic vein + 'Congenital anomaly of hepatic vein' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Congenital anomaly of hepatic vein' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular liver disease' + 'Congenital anomaly of hepatic vein' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital systemic veins anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99919 Label(s): Staphylococcal toxic-shock syndrome + 'Staphylococcal toxic-shock syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bacterial toxic-shock syndrome' + 'Staphylococcal toxic-shock syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Staphylococcal toxemia' Class: http://www.orpha.net/ORDO/Orphanet_99918 Label(s): Streptococcal toxic-shock syndrome + 'Streptococcal toxic-shock syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bacterial toxic-shock syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95504 Label(s): OBSOLETE: Metastatic pituitary hormone deficiency + 'OBSOLETE: Metastatic pituitary hormone deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pituitary hormone deficiency of tumoral origin' Class: http://www.orpha.net/ORDO/Orphanet_842 Label(s): Testicular seminomatous germ cell tumor + 'Testicular seminomatous germ cell tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Germ cell tumor of testis' Class: http://www.orpha.net/ORDO/Orphanet_99912 Label(s): Malignant dysgerminomatous germ cell tumor of the ovary + 'Malignant dysgerminomatous germ cell tumor of the ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant germ cell tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_436003 Label(s): Contractures-developmental delay-Pierre Robin syndrome + 'Contractures-developmental delay-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 5' + 'Contractures-developmental delay-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with a chromosomal anomaly' + 'Contractures-developmental delay-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Contractures-developmental delay-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_181425 Label(s): OBSOLETE: Rare major hypertriglyceridemia + 'OBSOLETE: Rare major hypertriglyceridemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hyperlipidemia' Class: http://www.orpha.net/ORDO/Orphanet_1878 Label(s): TRIM32-related limb-girdle muscular dystrophy R8 + 'TRIM32-related limb-girdle muscular dystrophy R8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'TRIM32-related limb-girdle muscular dystrophy R8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of TRIM32' Class: http://www.orpha.net/ORDO/Orphanet_1879 Label(s): Melorheostosis with osteopoikilosis + 'Melorheostosis with osteopoikilosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_79320 Label(s): ALG6-CDG + 'ALG6-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with intestinal involvement' + 'ALG6-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'ALG6-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'ALG6-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85193 Label(s): Idiopathic juvenile osteoporosis + 'Idiopathic juvenile osteoporosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'Idiopathic juvenile osteoporosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric rheumatologic disease' + 'Idiopathic juvenile osteoporosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_99170 Label(s): Tarsal kink syndrome + 'Tarsal kink syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with entropion' + 'Tarsal kink syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with entropion' Class: http://www.orpha.net/ORDO/Orphanet_839 Label(s): Congenital nephrotic syndrome, Finnish type + 'Congenital nephrotic syndrome, Finnish type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231692 Label(s): Isolated growth hormone deficiency type III + 'Isolated growth hormone deficiency type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired isolated growth hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_48104 Label(s): Pyoderma gangrenosum + 'Pyoderma gangrenosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Pyoderma gangrenosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_834 Label(s): Free sialic acid storage disease + 'Free sialic acid storage disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with epilepsy' + 'Free sialic acid storage disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lysosomal amino acid transport' + 'Free sialic acid storage disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_438213 Label(s): PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome + 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_831 Label(s): Congenital cervical spinal stenosis + 'Congenital cervical spinal stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_99903 Label(s): Spirillary rat-bite fever + 'Spirillary rat-bite fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rat-bite fever' Class: http://www.orpha.net/ORDO/Orphanet_99901 Label(s): Acyl-CoA dehydrogenase 9 deficiency + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Exercise intolerance with lactic acidosis' + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_155884 Label(s): Coloboma of superior eyelid + 'Coloboma of superior eyelid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oblique facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_1882 Label(s): Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome + 'Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' + 'Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_102284 Label(s): OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome + 'OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_611201 Label(s): Oculogastrointestinal-neurodevelopmental syndrome + 'Oculogastrointestinal-neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Oculogastrointestinal-neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculogastrointestinal-neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculogastrointestinal-neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Oculogastrointestinal-neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_477814 Label(s): Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome + 'Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' + 'Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cortical involvement' Class: http://www.orpha.net/ORDO/Orphanet_123916 Label(s): nuclear receptor subfamily 3 group C member 1 + 'nuclear receptor subfamily 3 group C member 1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Cushing disease' Class: http://www.orpha.net/ORDO/Orphanet_829 Label(s): Adult-onset Still disease + 'Adult-onset Still disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' + 'Adult-onset Still disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_828 Label(s): Stickler syndrome + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with collagen disease' + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic vitreoretinopathy' + 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_827 Label(s): Stargardt disease + 'Stargardt disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' + 'Stargardt disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_824 Label(s): Primary myelofibrosis + 'Primary myelofibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare acquired aplastic anemia' + 'Primary myelofibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloproliferative neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_822 Label(s): Hereditary spherocytosis + 'Hereditary spherocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' Class: http://www.orpha.net/ORDO/Orphanet_821 Label(s): Sotos syndrome + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 5' + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_820 Label(s): Sneddon syndrome + 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' + 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-inflammatory vasculopathy' + 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular disease' + 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_99361 Label(s): Familial medullary thyroid carcinoma + 'Familial medullary thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thyroid carcinoma' + 'Familial medullary thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited digestive cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_65748 Label(s): Multiple self-healing squamous epithelioma + 'Multiple self-healing squamous epithelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Multiple self-healing squamous epithelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_289290 Label(s): Hypermethioninemia encephalopathy due to adenosine kinase deficiency + 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_178148 Label(s): Antenatal multiminicore disease with arthrogryposis multiplex congenita + 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiminicore myopathy' Class: http://www.orpha.net/ORDO/Orphanet_1891 Label(s): Intellectual disability-spasticity-ectrodactyly syndrome + 'Intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_178145 Label(s): Moderate multiminicore disease with hand involvement + 'Moderate multiminicore disease with hand involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiminicore myopathy' + 'Moderate multiminicore disease with hand involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic ryanodine receptor defect' Class: http://www.orpha.net/ORDO/Orphanet_1894 Label(s): Ectrodactyly-spina bifida-cardiopathy syndrome + 'Ectrodactyly-spina bifida-cardiopathy syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Acrocardiofacial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_313892 Label(s): Developmental and speech delay due to SOX5 deficiency + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lamb-Shaffer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_980 Label(s): Absence of the pulmonary artery + 'Absence of the pulmonary artery' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary artery or pulmonary branch anomaly' Class: http://www.orpha.net/ORDO/Orphanet_218432 Label(s): OBSOLETE: Familial restrictive cardiomyopathy type 3 + 'OBSOLETE: Familial restrictive cardiomyopathy type 3' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_231679 Label(s): Isolated growth hormone deficiency type II + 'Isolated growth hormone deficiency type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired isolated growth hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_819 Label(s): Smith-Magenis syndrome + 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_818 Label(s): Smith-Lemli-Opitz syndrome + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development due to a cholesterol synthesis defect' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniofacial anomaly with cataract' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic epicanthus' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sterol biosynthesis disorder' Class: http://www.orpha.net/ORDO/Orphanet_816 Label(s): Sjögren-Larsson syndrome + 'Sjögren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Sjögren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with prominent neurologic signs' + 'Sjögren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Sjögren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Sjögren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' Class: http://www.orpha.net/ORDO/Orphanet_183604 Label(s): OBSOLETE: Rare genetic glaucoma + 'OBSOLETE: Rare genetic glaucoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pediatric-onset glaucoma of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_813 Label(s): Silver-Russell syndrome + 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_812 Label(s): Sialidosis type 1 + 'Sialidosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Sialidosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sialidosis' + 'Sialidosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_183601 Label(s): OBSOLETE: Rare genetic refraction anomaly + 'OBSOLETE: Rare genetic refraction anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare refraction anomaly' Class: http://www.orpha.net/ORDO/Orphanet_810 Label(s): Shigellosis + 'Shigellosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_96063 Label(s): Mosaic trisomy 10 + 'Mosaic trisomy 10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_313884 Label(s): 12p12.1 microdeletion syndrome + '12p12.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lamb-Shaffer syndrome' + '12p12.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 12' Class: http://www.orpha.net/ORDO/Orphanet_79350 Label(s): 3-phosphoserine phosphatase deficiency, infantile/juvenile form + '3-phosphoserine phosphatase deficiency, infantile/juvenile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serine biosynthesis pathway deficiency, infantile/juvenile form' Class: http://www.orpha.net/ORDO/Orphanet_79351 Label(s): 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form + '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serine biosynthesis pathway deficiency, infantile/juvenile form' Class: http://www.orpha.net/ORDO/Orphanet_809 Label(s): Mixed connective tissue disease + 'Mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'Mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease' + 'Mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overlapping connective tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_808 Label(s): Seckel syndrome + 'Seckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + 'Seckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_807 Label(s): Sebastian syndrome + 'Sebastian syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MYH9-related disease' Class: http://www.orpha.net/ORDO/Orphanet_806 Label(s): Scott syndrome + 'Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a qualitative platelet defect' Class: http://www.orpha.net/ORDO/Orphanet_805 Label(s): Tuberous sclerosis complex + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed dermis disorder' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurocutaneous syndrome with epilepsy' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic mixed dermis disorder' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' + 'Tuberous sclerosis complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_803 Label(s): Amyotrophic lateral sclerosis + 'Amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Motor neuron disease' + 'Amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_255138 Label(s): Pyruvate dehydrogenase E1-beta deficiency + 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_800 Label(s): Schwartz-Jampel syndrome + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of perlecan' + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myotonia' + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Perlecan-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_457252 Label(s): Squamous cell carcinoma of the oral tongue + 'Squamous cell carcinoma of the oral tongue' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Squamous cell carcinoma of the oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_280403 Label(s): Familial omphalocele syndrome with facial dysmorphism + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_65720 Label(s): Arthrogryposis-severe scoliosis syndrome + 'Arthrogryposis-severe scoliosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_71291 Label(s): Hereditary vascular retinopathy + 'Hereditary vascular retinopathy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_71290 Label(s): Familial platelet disorder with associated myeloid malignancy + 'Familial platelet disorder with associated myeloid malignancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated constitutional thrombocytopenia' + 'Familial platelet disorder with associated myeloid malignancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dense granule disease' + 'Familial platelet disorder with associated myeloid malignancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited hematologic cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228399 Label(s): 8q12 microduplication syndrome + '8q12 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + '8q12 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 8' + '8q12 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_228396 Label(s): Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome + 'Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic lacrimal system disorder' Class: http://www.orpha.net/ORDO/Orphanet_96072 Label(s): 4p16.3 microduplication syndrome + '4p16.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 4' + '4p16.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal disease with overgrowth' Class: http://www.orpha.net/ORDO/Orphanet_58040 Label(s): Osteoblastoma + 'Osteoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_101980 Label(s): OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells + 'OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_96078 Label(s): 16p13.3 microduplication syndrome + '16p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_79500 Label(s): DOORS syndrome + 'DOORS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Deafness-onychodystrophy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_275777 Label(s): Heritable pulmonary arterial hypertension + 'Heritable pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic/heritable pulmonary arterial hypertension' Class: http://www.orpha.net/ORDO/Orphanet_228384 Label(s): 5q14.3 microdeletion syndrome + '5q14.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 5' + '5q14.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '5q14.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' + '5q14.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_477857 Label(s): Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1777 Label(s): Temtamy syndrome + 'Temtamy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Temtamy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Temtamy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Temtamy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_306189 Label(s): E74 like ETS transcription factor 4 + 'E74 like ETS transcription factor 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Hereditary pediatric Behçet-like disease' Class: http://www.orpha.net/ORDO/Orphanet_502318 Label(s): Cochlear nerve deficiency + 'Cochlear nerve deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Middle ear anomaly' Class: http://www.orpha.net/ORDO/Orphanet_77303 Label(s): OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect + 'OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_71278 Label(s): Congenital brain dysgenesis due to glutamine synthetase deficiency + 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glutamine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_71277 Label(s): Classic glucose transporter type 1 deficiency syndrome + 'Classic glucose transporter type 1 deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glucose transport disorder' + 'Classic glucose transporter type 1 deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Classic glucose transporter type 1 deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_71276 Label(s): Silent sinus syndrome + 'Silent sinus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' Class: http://www.orpha.net/ORDO/Orphanet_313855 Label(s): FGFR2-related bent bone dysplasia + 'FGFR2-related bent bone dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Campomelic dysplasia and related disorders' + 'FGFR2-related bent bone dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_71273 Label(s): Renal nutcracker syndrome + 'Renal nutcracker syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' + 'Renal nutcracker syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_71272 Label(s): Sandifer syndrome + 'Sandifer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' + 'Sandifer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare paroxysmal movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_71271 Label(s): Split hand-split foot-deafness syndrome + 'Split hand-split foot-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Split hand-split foot-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Split hand-split foot-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Split hand-split foot-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Split hand-split foot-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Split hand-split foot-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_313850 Label(s): Infantile cerebellar-retinal degeneration + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tricarboxylic acid cycle disorder' + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_228379 Label(s): Virus-associated trichodysplasia spinulosa + 'Virus-associated trichodysplasia spinulosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' + 'Virus-associated trichodysplasia spinulosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_228371 Label(s): Foodborne botulism + 'Foodborne botulism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Botulism' Class: http://www.orpha.net/ORDO/Orphanet_231632 Label(s): Ectopic aldosterone-producing tumor + 'Ectopic aldosterone-producing tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare non surgically correctable form of primary aldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_275761 Label(s): Lysosomal acid lipase deficiency + 'Lysosomal acid lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic dyslipidemia' + 'Lysosomal acid lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lipid storage disease' Class: http://www.orpha.net/ORDO/Orphanet_308380 Label(s): Methylcobalamin deficiency type cblDv1 + 'Methylcobalamin deficiency type cblDv1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Homocystinuria without methylmalonic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_90354 Label(s): Brittle cornea syndrome + 'Brittle cornea syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' + 'Brittle cornea syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397695 Label(s): 3q27.3 microdeletion syndrome + '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 3' Class: http://www.orpha.net/ORDO/Orphanet_71267 Label(s): Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome + 'Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformative syndrome with dentinogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_313846 Label(s): Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome + 'Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397692 Label(s): Hereditary isolated aplastic anemia + 'Hereditary isolated aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_457265 Label(s): Progressive myoclonic epilepsy type 9 + 'Progressive myoclonic epilepsy type 9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_228366 Label(s): CLN7 disease + 'CLN7 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_228363 Label(s): CLN6 disease + 'CLN6 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adult neuronal ceroid lipofuscinosis' + 'CLN6 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_431361 Label(s): Progressive encephalopathy with leukodystrophy due to DECR deficiency + 'Progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_3346 Label(s): Tracheal agenesis + 'Tracheal agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Tracheal agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Tracheal agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tracheal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_97261 Label(s): GRFoma + 'GRFoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning neuroendocrine tumor of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_58017 Label(s): Classic hairy cell leukemia + 'Classic hairy cell leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Indolent B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_90339 Label(s): OBSOLETE: Rosselli-Gulienetti syndrome + 'OBSOLETE: Rosselli-Gulienetti syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_313838 Label(s): Coats plus syndrome + 'Coats plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebral small vessel disease' + 'Coats plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' + 'Coats plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic vitreoretinopathy' + 'Coats plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_217385 Label(s): 17p13.3 microduplication syndrome + '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_465508 Label(s): Symptomatic form of hemochromatosis type 1 + 'Symptomatic form of hemochromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_228354 Label(s): CLN8 disease + 'CLN8 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN8 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_255182 Label(s): Pyruvate dehydrogenase E3-binding protein deficiency + 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_238557 Label(s): Chuvash erythrocytosis + 'Chuvash erythrocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital secondary polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_90348 Label(s): Autosomal dominant cutis laxa + 'Autosomal dominant cutis laxa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutis laxa' Class: http://www.orpha.net/ORDO/Orphanet_165991 Label(s): Exercise-induced hyperinsulinism + 'Exercise-induced hyperinsulinism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of carbohydrate absorption and transport' + 'Exercise-induced hyperinsulinism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-sensitive diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_238624 Label(s): Idiopathic intracranial hypertension + 'Idiopathic intracranial hypertension' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_96096 Label(s): Distal trisomy 4q + 'Distal trisomy 4q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 4' Class: http://www.orpha.net/ORDO/Orphanet_477684 Label(s): Combined oxidative phosphorylation defect type 26 + 'Combined oxidative phosphorylation defect type 26' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_314769 Label(s): Somatomammotropinoma + 'Somatomammotropinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_228346 Label(s): CLN3 disease + 'CLN3 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_431344 Label(s): Urachal sinus + 'Urachal sinus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital urachal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_508093 Label(s): MEPAN syndrome + 'MEPAN syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lipoic acid biosynthesis defect' + 'MEPAN syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'MEPAN syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'MEPAN syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'MEPAN syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' + 'MEPAN syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_431341 Label(s): Patent urachus + 'Patent urachus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital urachal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_255199 Label(s): OBSOLETE: Sporadic Leigh syndrome + 'OBSOLETE: Sporadic Leigh syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mitochondrial DNA-associated Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_477673 Label(s): Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome + 'Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' + 'Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228337 Label(s): CLN10 disease + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adult neuronal ceroid lipofuscinosis' + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_90362 Label(s): Primary intestinal lymphangiectasia + 'Primary intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' + 'Primary intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal lymphangiectasia' Class: http://www.orpha.net/ORDO/Orphanet_477668 Label(s): OBSOLETE: AymÚ-Gripp syndrome + 'OBSOLETE: AymÚ-Gripp syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Aymé-Gripp syndrome' Class: http://www.orpha.net/ORDO/Orphanet_313808 Label(s): Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia + 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease with dementia' + 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_268049 Label(s): mucin 5B, oligomeric mucus/gel-forming + 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'major susceptibility factor in' some 'Hypersensitivity pneumonitis' Class: http://www.orpha.net/ORDO/Orphanet_2406 Label(s): Locked-in syndrome + 'Locked-in syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_313800 Label(s): Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome + 'Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' + 'Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudopapilledema' + 'Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_228329 Label(s): CLN1 disease + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adult neuronal ceroid lipofuscinosis' + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_431329 Label(s): Autosomal recessive spastic paraplegia type 57 + 'Autosomal recessive spastic paraplegia type 57' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' Class: http://www.orpha.net/ORDO/Orphanet_2409 Label(s): Lowry-MacLean syndrome + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_165961 Label(s): OBSOLETE: Subcutaneous myiasis + 'OBSOLETE: Subcutaneous myiasis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Cutaneous myiasis' Class: http://www.orpha.net/ORDO/Orphanet_410091 Label(s): Hungary - 'Hungary' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_35909 Label(s): Combined deficiency of factor V and factor VIII + 'Combined deficiency of factor V and factor VIII' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_71212 Label(s): Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Energy metabolism disorder with epilepsy' + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '3-hydroxyacyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_71211 Label(s): Neuromyelitis optica spectrum disorder + 'Neuromyelitis optica spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple sclerosis variant' + 'Neuromyelitis optica spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune/inflammatory optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_363494 Label(s): Non-seminomatous germ cell tumor of testis + 'Non-seminomatous germ cell tumor of testis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Germ cell tumor of testis' Class: http://www.orpha.net/ORDO/Orphanet_228318 Label(s): OBSOLETE: Idiopathic hypersomnia without long sleep time + 'OBSOLETE: Idiopathic hypersomnia without long sleep time' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic hypersomnia' Class: http://www.orpha.net/ORDO/Orphanet_228315 Label(s): OBSOLETE: Idiopathic hypersomnia with long sleep time + 'OBSOLETE: Idiopathic hypersomnia with long sleep time' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic hypersomnia' Class: http://www.orpha.net/ORDO/Orphanet_165955 Label(s): Wound myiasis + 'Wound myiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutaneous myiasis' Class: http://www.orpha.net/ORDO/Orphanet_90389 Label(s): Telangiectasia macularis eruptiva perstans + 'Telangiectasia macularis eruptiva perstans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maculopapular cutaneous mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_480907 Label(s): X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome + 'X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_163746 Label(s): Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease + 'Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with Hirschsprung disease as a major feature' + 'Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic peripheral neuropathy' + 'Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' + 'Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypopigmentation of the skin' + 'Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hypopigmentation of the skin' + 'Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_363483 Label(s): Testicular teratoma + 'Testicular teratoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of testis and paratestis' Class: http://www.orpha.net/ORDO/Orphanet_228308 Label(s): Carnitine palmitoyl transferase II deficiency, neonatal form + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carnitine palmitoyltransferase II deficiency' Class: http://www.orpha.net/ORDO/Orphanet_101982 Label(s): OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells + 'OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_228305 Label(s): Carnitine palmitoyl transferase II deficiency, severe infantile form + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carnitine palmitoyltransferase II deficiency' Class: http://www.orpha.net/ORDO/Orphanet_599579 Label(s): Factor V Amsterdam bleeding disorder + 'Factor V Amsterdam bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Factor V short isoforms-related bleeding disorder' Class: http://www.orpha.net/ORDO/Orphanet_90390 Label(s): Anonychia-onychodystrophy syndrome + 'Anonychia-onychodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated congenital anonychia' Class: http://www.orpha.net/ORDO/Orphanet_90398 Label(s): Localized lichen myxedematosus with mixed features of different subtypes + 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atypical lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_90399 Label(s): Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms + 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atypical lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_100985 Label(s): Autosomal dominant spastic paraplegia type 4 + 'Autosomal dominant spastic paraplegia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal dominant spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_397623 Label(s): 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/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pinnae and external auditory canal anomaly' + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_363478 Label(s): Paratesticular adenocarcinoma + 'Paratesticular adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of testis and paratestis' Class: http://www.orpha.net/ORDO/Orphanet_363444 Label(s): THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome + 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_363472 Label(s): Tumor of testis and paratestis + 'Tumor of testis and paratestis' SubClassOf http://www.orpha.net/ORDO/Orphanet_626609 Class: http://www.orpha.net/ORDO/Orphanet_447896 Label(s): Tremor-ataxia-central hypomyelination syndrome + 'Tremor-ataxia-central hypomyelination syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '4H leukodystrophy' + 'Tremor-ataxia-central hypomyelination syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' + 'Tremor-ataxia-central hypomyelination syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_370088 Label(s): Acute infantile liver failure-multisystemic involvement syndrome + 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_397618 Label(s): Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome + 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cranial nerve involvement' + 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cranial nerve involvement' Class: http://www.orpha.net/ORDO/Orphanet_397615 Label(s): Obesity due to CEP19 deficiency + 'Obesity due to CEP19 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_397612 Label(s): Macrocephaly-developmental delay syndrome + 'Macrocephaly-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_163727 Label(s): Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome + 'Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163721 Label(s): Rolandic epilepsy-speech dyspraxia syndrome + 'Rolandic epilepsy-speech dyspraxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' + 'Rolandic epilepsy-speech dyspraxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_603494 Label(s): Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome + 'Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' + 'Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic optic nerve hypoplasia' + 'Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic oculocutaneous albinism' + 'Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_447881 Label(s): Idiopathic dropped head syndrome + 'Idiopathic dropped head syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_79643 Label(s): Autosomal recessive hyperinsulinism due to SUR1 deficiency + 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-resistant diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_364055 Label(s): Severe early-childhood-onset retinal dystrophy + 'Severe early-childhood-onset retinal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_97282 Label(s): VIPoma + 'VIPoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning neuroendocrine tumor of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_397606 Label(s): PrP systemic amyloidosis + 'PrP systemic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited human prion disease' + 'PrP systemic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'PrP systemic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_163717 Label(s): Benign familial mesial temporal lobe epilepsy + 'Benign familial mesial temporal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_363454 Label(s): BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy + 'BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_447877 Label(s): Polymerase proofreading-related adenomatous polyposis + 'Polymerase proofreading-related adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Attenuated familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_70573 Label(s): Small cell lung cancer + 'Small cell lung cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bronchopulmonary tumor' Class: http://www.orpha.net/ORDO/Orphanet_595133 Label(s): Perivascular epithelioid cell neoplasm + 'Perivascular epithelioid cell neoplasm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_281234 Label(s): OBSOLETE: Congenital ichthyosis with trichothiodystrophy + 'OBSOLETE: Congenital ichthyosis with trichothiodystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_521268 Label(s): OBSOLETE: SLC5A6-CDG + 'OBSOLETE: SLC5A6-CDG' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Disorder of other vitamins and cofactors metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_409983 Label(s): Africa - 'Africa' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_163708 Label(s): Cryptogenic late-onset epileptic spasms + 'Cryptogenic late-onset epileptic spasms' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_96186 Label(s): Maternal uniparental disomy of chromosome 20 + 'Maternal uniparental disomy of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_363447 Label(s): Autosomal dominant childhood-onset proximal spinal muscular atrophy + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_1299 Label(s): Branchioskeletogenital syndrome + 'Branchioskeletogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Branchioskeletogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Branchioskeletogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_163703 Label(s): Febrile infection-related epilepsy syndrome + 'Febrile infection-related epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute encephalopathy with inflammation-mediated status epilepticus' Class: http://www.orpha.net/ORDO/Orphanet_352403 Label(s): Spectrin-associated autosomal recessive cerebellar ataxia + 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia' + 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1295 Label(s): Brachytelephalangy-dysmorphism-Kallmann syndrome + 'Brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' + 'Brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_555407 Label(s): NAD(P)HX epimerase deficiency + 'NAD(P)HX epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease' + 'NAD(P)HX epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'NAD(P)HX epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'NAD(P)HX epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_70587 Label(s): Infant acute respiratory distress syndrome + 'Infant acute respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' Class: http://www.orpha.net/ORDO/Orphanet_521258 Label(s): Xq25 microduplication syndrome + 'Xq25 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Xq25 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Xq25 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_363432 Label(s): Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_401911 Label(s): AXIN2-related attenuated familial adenomatous polyposis + 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Attenuated familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_276598 Label(s): Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency + 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-resistant focal hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_2090 Label(s): GMS syndrome + 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_620198 Label(s): Non-syndromic bicoronal and metopic craniosynostosis + 'Non-syndromic bicoronal and metopic craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_411493 Label(s): Pontocerebellar hypoplasia type 10 + 'Pontocerebellar hypoplasia type 10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pontocerebellar hypoplasia type 10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_206489 Label(s): Malignant germ cell tumor of the vagina + 'Malignant germ cell tumor of the vagina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vulvovaginal tumor' Class: http://www.orpha.net/ORDO/Orphanet_1278 Label(s): Brachydactyly-preaxial hallux varus syndrome + 'Brachydactyly-preaxial hallux varus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_363424 Label(s): Multiple mitochondrial dysfunctions syndrome type 3 + 'Multiple mitochondrial dysfunctions syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple mitochondrial dysfunctions syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1276 Label(s): Brachydactyly-arterial hypertension syndrome + 'Brachydactyly-arterial hypertension syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cause of hypertension' + 'Brachydactyly-arterial hypertension syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Brachydactyly-arterial hypertension syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_1275 Label(s): Brachydactyly-elbow wrist dysplasia syndrome + 'Brachydactyly-elbow wrist dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' + 'Brachydactyly-elbow wrist dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_595109 Label(s): Atypical Timothy syndrome + 'Atypical Timothy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Timothy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1272 Label(s): Aymé-Gripp syndrome + 'Aymé-Gripp syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Aymé-Gripp syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aymé-Gripp syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Aymé-Gripp syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_599519 Label(s): Factor V short isoforms-related bleeding disorder + 'Factor V short isoforms-related bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_319223 Label(s): Argentine hemorrhagic fever + 'Argentine hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_401920 Label(s): Fibrolamellar hepatocellular carcinoma + 'Fibrolamellar hepatocellular carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_3472 Label(s): Yunis-Varon syndrome + 'Yunis-Varon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Yunis-Varon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Yunis-Varon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_363417 Label(s): Temtamy preaxial brachydactyly syndrome + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with deafness as a major feature' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosylglycan synthesis' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_53583 Label(s): Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity + 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paroxysmal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_1266 Label(s): Dermato-cardio-skeletal syndrome, Borrone type + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Frank-Ter Haar syndrome' Class: http://www.orpha.net/ORDO/Orphanet_603448 Label(s): Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome + 'Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_89938 Label(s): Bartter syndrome type 4 + 'Bartter syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bartter syndrome' + 'Bartter syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Bartter syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_89937 Label(s): Autosomal dominant hypophosphatemic rickets + 'Autosomal dominant hypophosphatemic rickets' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatemic rickets' Class: http://www.orpha.net/ORDO/Orphanet_89936 Label(s): X-linked hypophosphatemia + 'X-linked hypophosphatemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatemic rickets' Class: http://www.orpha.net/ORDO/Orphanet_599501 Label(s): Acquired factor X deficiency + 'Acquired factor X deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_83316 Label(s): Pseudotyphus of California + 'Pseudotyphus of California' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spotted fever rickettsiosis' Class: http://www.orpha.net/ORDO/Orphanet_83315 Label(s): Murine typhus + 'Murine typhus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Typhus-group rickettsiosis' Class: http://www.orpha.net/ORDO/Orphanet_83314 Label(s): Epidemic typhus + 'Epidemic typhus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Typhus-group rickettsiosis' Class: http://www.orpha.net/ORDO/Orphanet_83313 Label(s): Boutonneuse fever + 'Boutonneuse fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spotted fever rickettsiosis' Class: http://www.orpha.net/ORDO/Orphanet_93299 Label(s): Achondrogenesis type 1A + 'Achondrogenesis type 1A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Achondrogenesis' Class: http://www.orpha.net/ORDO/Orphanet_3460 Label(s): Torg-Winchester syndrome + 'Torg-Winchester syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' Class: http://www.orpha.net/ORDO/Orphanet_93296 Label(s): Achondrogenesis type 2 + 'Achondrogenesis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Achondrogenesis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Achondrogenesis' Class: http://www.orpha.net/ORDO/Orphanet_363409 Label(s): Fetal akinesia-cerebral and retinal hemorrhage syndrome + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_93292 Label(s): Adenoma of pancreas + 'Adenoma of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare epithelial tumor of pancreas' + 'Adenoma of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_1252 Label(s): Blepharonasofacial malformation syndrome + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1250 Label(s): OBSOLETE: Blaichman syndrome + 'OBSOLETE: Blaichman syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98871 Label(s): Transient erythroblastopenia of childhood + 'Transient erythroblastopenia of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary acquired red cell aplasia' Class: http://www.orpha.net/ORDO/Orphanet_3459 Label(s): Wilson-Turner syndrome + 'Wilson-Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Wilson-Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Wilson-Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_95491 Label(s): Congenital coronary artery aneurysm + 'Congenital coronary artery aneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Coronary artery congenital malformation' Class: http://www.orpha.net/ORDO/Orphanet_3456 Label(s): Wildervanck syndrome + 'Wildervanck syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Wildervanck syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Wildervanck syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_3453 Label(s): Autoimmune polyendocrinopathy type 1 + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hypoparathyroidism' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic chronic primary adrenal insufficiency' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypoparathyroidism' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic autoimmune enteropathy' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired premature ovarian failure' Class: http://www.orpha.net/ORDO/Orphanet_3452 Label(s): Whipple disease + 'Whipple disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' + 'Whipple disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' + 'Whipple disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with myoclonus as a major feature' + 'Whipple disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_3451 Label(s): Infantile spasms syndrome + 'Infantile spasms syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' + 'Infantile spasms syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Infantile spasms syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' + 'Infantile spasms syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ARX-related epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_3450 Label(s): Weissenbacher-Zweymuller syndrome + 'Weissenbacher-Zweymuller syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant otospondylomegaepiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93284 Label(s): Spondyloepiphyseal dysplasia tarda + 'Spondyloepiphyseal dysplasia tarda' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93283 Label(s): Spondyloepiphyseal dysplasia, Kimberley type + 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggrecan-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_93282 Label(s): Spondyloepimetaphyseal dysplasia, PAPSS2 type + 'Spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sulfation-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_567548 Label(s): Idiopathic steroid-resistant nephrotic syndrome + 'Idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_329178 Label(s): Congenital muscular dystrophy with intellectual disability and severe epilepsy + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_567546 Label(s): Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance + 'Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_567544 Label(s): Idiopathic non-lupus full-house nephropathy + 'Idiopathic non-lupus full-house nephropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_319251 Label(s): Rift valley fever + 'Rift valley fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_95486 Label(s): Premature closure of the arterial duct + 'Premature closure of the arterial duct' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arterial duct anomaly' Class: http://www.orpha.net/ORDO/Orphanet_95484 Label(s): OBSOLETE: Aneurysm or dilatation of ascending aorta + 'OBSOLETE: Aneurysm or dilatation of ascending aorta' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_3449 Label(s): Weill-Marchesani syndrome + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microspherophakia' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_3448 Label(s): Weaver-Williams syndrome + 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_240897 Label(s): OBSOLETE: Phenprocoumon toxicity + 'OBSOLETE: Phenprocoumon toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_3444 Label(s): Watson syndrome + 'Watson syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Neurofibromatosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_93279 Label(s): Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis + 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93277 Label(s): Monostotic fibrous dysplasia + 'Monostotic fibrous dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fibrous dysplasia of bone' Class: http://www.orpha.net/ORDO/Orphanet_93276 Label(s): Polyostotic fibrous dysplasia + 'Polyostotic fibrous dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fibrous dysplasia of bone' Class: http://www.orpha.net/ORDO/Orphanet_93275 Label(s): Thanatophoric dysplasia, Glasgow variant + 'Thanatophoric dysplasia, Glasgow variant' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cartilage-hair hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_93274 Label(s): Thanatophoric dysplasia type 2 + 'Thanatophoric dysplasia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thanatophoric dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_97685 Label(s): 17q11 microdeletion syndrome + '17q11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurofibromatosis type 1' + '17q11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_93271 Label(s): Short rib-polydactyly syndrome, Verma-Naumoff type + 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Short rib-polydactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93270 Label(s): Short rib-polydactyly syndrome, Saldino-Noonan type + 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Short rib-polydactyly syndrome' + 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_1236 Label(s): Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome + 'Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_1235 Label(s): OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome + 'OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Absence of fingerprints-congenital milia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_574957 Label(s): Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' Class: http://www.orpha.net/ORDO/Orphanet_99889 Label(s): Cushing syndrome due to ectopic ACTH secretion + 'Cushing syndrome due to ectopic ACTH secretion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning neuroendocrine tumor of pancreas' + 'Cushing syndrome due to ectopic ACTH secretion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ACTH-dependent Cushing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95474 Label(s): Double-orifice mitral valve + 'Double-orifice mitral valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleft mitral valve' Class: http://www.orpha.net/ORDO/Orphanet_99886 Label(s): Transient neonatal diabetes mellitus + 'Transient neonatal diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_99885 Label(s): Isolated permanent neonatal diabetes mellitus + 'Isolated permanent neonatal diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_3438 Label(s): Biliary tract malformation-renal failure syndrome + 'Biliary tract malformation-renal failure syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Arthrogryposis-renal dysfunction-cholestasis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99880 Label(s): Hyperparathyroidism-jaw tumor syndrome + 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial primary hyperparathyroidism' + 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3433 Label(s): Microcephaly-brachydactyly-kyphoscoliosis syndrome + 'Microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_93269 Label(s): Short rib-polydactyly syndrome, Majewski type + 'Short rib-polydactyly syndrome, Majewski type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Short rib-polydactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93268 Label(s): Short rib-polydactyly syndrome, Beemer-Langer type + 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Short rib-polydactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93267 Label(s): Cloverleaf skull-multiple congenital anomalies syndrome + 'Cloverleaf skull-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Cloverleaf skull-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cloverleaf skull-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_97678 Label(s): Maternal uniparental disomy of chromosome 13 + 'Maternal uniparental disomy of chromosome 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_289307 Label(s): Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency + 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of branched-chain amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_93262 Label(s): Crouzon syndrome-acanthosis nigricans syndrome + 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniostenosis with strabismus' + 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_93260 Label(s): Pfeiffer syndrome type 3 + 'Pfeiffer syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pfeiffer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_53540 Label(s): Goldmann-Favre syndrome + 'Goldmann-Favre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated vitreoretinopathy' + 'Goldmann-Favre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_183598 Label(s): OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease + 'OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare genetic disorder of the ocular adnexa' Class: http://www.orpha.net/ORDO/Orphanet_99879 Label(s): Familial isolated hyperparathyroidism + 'Familial isolated hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial primary hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_99877 Label(s): OBSOLETE: Familial parathyroid adenoma + 'OBSOLETE: Familial parathyroid adenoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_95462 Label(s): Accessory tricuspid valve tissue + 'Accessory tricuspid valve tissue' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_95461 Label(s): Straddling or overriding tricuspid valve + 'Straddling or overriding tricuspid valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_3427 Label(s): Double outlet left ventricle + 'Double outlet left ventricle' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Conotruncal heart malformations' Class: http://www.orpha.net/ORDO/Orphanet_99872 Label(s): OBSOLETE: Hashimoto-Pritzker syndrome + 'OBSOLETE: Hashimoto-Pritzker syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_99871 Label(s): OBSOLETE: Eosinophilic granuloma + 'OBSOLETE: Eosinophilic granuloma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_99870 Label(s): OBSOLETE: Letterer-Siwe disease + 'OBSOLETE: Letterer-Siwe disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_3423 Label(s): Vasquez-Hurst-Sotos syndrome + 'Vasquez-Hurst-Sotos syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Xq27.3q28 duplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93259 Label(s): Pfeiffer syndrome type 2 + 'Pfeiffer syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pfeiffer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93256 Label(s): Fragile X-associated tremor/ataxia syndrome + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tremor disorder' + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked cerebellar ataxia' + 'Fragile X-associated tremor/ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic tremor disorder' Class: http://www.orpha.net/ORDO/Orphanet_97668 Label(s): OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency + 'OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization' Class: http://www.orpha.net/ORDO/Orphanet_519930 Label(s): Fungal keratitis + 'Fungal keratitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infective keratitis' Class: http://www.orpha.net/ORDO/Orphanet_1917 Label(s): Fetal methylmercury syndrome + 'Fetal methylmercury syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' + 'Fetal methylmercury syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1918 Label(s): Fetal minoxidil syndrome + 'Fetal minoxidil syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' + 'Fetal minoxidil syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1919 Label(s): Phenobarbital embryopathy + 'Phenobarbital embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fetal anticonvulsant syndrome' + 'Phenobarbital embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_91352 Label(s): Germinoma of the central nervous system + 'Germinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal germinoma' + 'Germinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency of tumoral origin' + 'Germinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary germ cell tumor of central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_799 Label(s): Schizencephaly + 'Schizencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Schizencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Encephaloclastic disorder' + 'Schizencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_798 Label(s): Schinzel-Giedion syndrome + 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_95457 Label(s): Tricuspid valve agenesis + 'Tricuspid valve agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_796 Label(s): Sandhoff disease + 'Sandhoff disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral lipidosis with dementia' + 'Sandhoff disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Sandhoff disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'GM2 gangliosidosis' + 'Sandhoff disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_794 Label(s): Saethre-Chotzen syndrome + 'Saethre-Chotzen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Saethre-Chotzen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Saethre-Chotzen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Saethre-Chotzen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniostenosis with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_793 Label(s): SAPHO syndrome + 'SAPHO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome' + 'SAPHO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_3419 Label(s): OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome + 'OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_791 Label(s): Retinitis pigmentosa + 'Retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene' + 'Retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in the RPGR gene' + 'Retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_790 Label(s): Retinoblastoma + 'Retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_3416 Label(s): Hyperostosis corticalis generalisata + 'Hyperostosis corticalis generalisata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_99861 Label(s): Precursor T-cell acute lymphoblastic leukemia + 'Precursor T-cell acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_3412 Label(s): VACTERL with hydrocephalus + 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_495274 Label(s): Charcot-Marie-Tooth disease type 2T + 'Charcot-Marie-Tooth disease type 2T' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_178533 Label(s): Primary cutaneous gamma/delta-positive T-cell lymphoma + 'Primary cutaneous gamma/delta-positive T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive primary cutaneous T-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_566243 Label(s): Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta + 'Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome of reduced sensitivity to thyroid hormone' Class: http://www.orpha.net/ORDO/Orphanet_531151 Label(s): 9q21.13 microdeletion syndrome + '9q21.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the long arm of chromosome 9' + '9q21.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101932 Label(s): Anomaly of the mitral subvalvular apparatus + 'Anomaly of the mitral subvalvular apparatus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital mitral valve insufficiency and/or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_1202 Label(s): Larynx atresia + 'Larynx atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' + 'Larynx atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_567502 Label(s): B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome + 'B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic agammaglobulinemia' + 'B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1200 Label(s): Burn-McKeown syndrome + 'Burn-McKeown syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' + 'Burn-McKeown syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Burn-McKeown syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nose and cavum anomaly' + 'Burn-McKeown syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Burn-McKeown syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_95449 Label(s): OBSOLETE: Congenital aortic valve insufficiency + 'OBSOLETE: Congenital aortic valve insufficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_788 Label(s): OBSOLETE: Hereditary resistance to anti-vitamin K + 'OBSOLETE: Hereditary resistance to anti-vitamin K' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_785 Label(s): Estrogen resistance syndrome + 'Estrogen resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic endocrine disease' + 'Estrogen resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Estrogen resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Estrogen resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomaly of puberty or/and menstrual cycle of genetic origin' + 'Estrogen resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare endocrine disease' + 'Estrogen resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomaly of puberty or/and menstrual cycle' Class: http://www.orpha.net/ORDO/Orphanet_99857 Label(s): Secondary syringomyelia + 'Secondary syringomyelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_783 Label(s): Rubinstein-Taybi syndrome + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lens shape anomaly' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_782 Label(s): Axenfeld-Rieger syndrome + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' + 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_781 Label(s): Q fever + 'Q fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_99852 Label(s): Ravine syndrome + 'Ravine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_3405 Label(s): Umbilical cord ulceration-intestinal atresia syndrome + 'Umbilical cord ulceration-intestinal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_3403 Label(s): Uhl anomaly + 'Uhl anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_3402 Label(s): Transient tyrosinemia of the newborn + 'Transient tyrosinemia of the newborn' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of tyrosine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_1931 Label(s): Frontal encephalocele + 'Frontal encephalocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated encephalocele' Class: http://www.orpha.net/ORDO/Orphanet_3400 Label(s): Aorto-ventricular tunnel + 'Aorto-ventricular tunnel' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ascending aorta anomaly' Class: http://www.orpha.net/ORDO/Orphanet_569700 Label(s): microRNA 140 - 'microRNA 140' SubClassOf 'disease-causing germline mutation(s) in' some 'Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome' + 'microRNA 140' SubClassOf 'disease-causing germline mutation(s) in' some 'MIR140-related spondyloepiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_619979 Label(s): Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome + 'Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_25980 Label(s): X-linked myopathy with excessive autophagy + 'X-linked myopathy with excessive autophagy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inclusion myopathy' + 'X-linked myopathy with excessive autophagy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1939 Label(s): OBSOLETE: Envenomization by Bothrops lanceolatus + 'OBSOLETE: Envenomization by Bothrops lanceolatus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Snakebite envenomation' Class: http://www.orpha.net/ORDO/Orphanet_619972 Label(s): CADINS disease + 'CADINS disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' + 'CADINS disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1934 Label(s): Early infantile epileptic encephalopathy + 'Early infantile epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' + 'Early infantile epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal epilepsy syndrome' + 'Early infantile epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Channelopathy with epilepsy' + 'Early infantile epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' + 'Early infantile epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ARX-related epileptic encephalopathy' + 'Early infantile epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_779 Label(s): Reynolds syndrome + 'Reynolds syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Reynolds syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' + 'Reynolds syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic disease with skin involvement' + 'Reynolds syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_778 Label(s): Rett syndrome + 'Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Motor stereotypies' + 'Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pervasive developmental disorder' + 'Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_776 Label(s): Lujan-Fryns syndrome + 'Lujan-Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lujan-Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_775 Label(s): OBSOLETE: X-linked intellectual disability, Martinez type + 'OBSOLETE: X-linked intellectual disability, Martinez type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_774 Label(s): Hereditary hemorrhagic telangiectasia + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular liver disease' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurovascular malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with conjunctival involvement as a major feature' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic capillary malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare capillary malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic respiratory malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' Class: http://www.orpha.net/ORDO/Orphanet_99846 Label(s): Autosomal dominant myoglobinuria + 'Autosomal dominant myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease' + 'Autosomal dominant myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular lipidosis' Class: http://www.orpha.net/ORDO/Orphanet_772 Label(s): Infantile Refsum disease + 'Infantile Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisome biogenesis disorder' + 'Infantile Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal disease with epilepsy' + 'Infantile Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive metabolic cerebellar ataxia' + 'Infantile Refsum disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental anomaly of metabolic origin' Class: http://www.orpha.net/ORDO/Orphanet_95431 Label(s): Twin to twin transfusion syndrome + 'Twin to twin transfusion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to unbalanced inter-twin blood transfusion' + 'Twin to twin transfusion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare immune disease' Class: http://www.orpha.net/ORDO/Orphanet_770 Label(s): Rabies + 'Rabies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' + 'Rabies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease of the nervous system' Class: http://www.orpha.net/ORDO/Orphanet_99842 Label(s): Leukocyte adhesion deficiency type I + 'Leukocyte adhesion deficiency type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukocyte adhesion deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2305 Label(s): Isotretinoin syndrome + 'Isotretinoin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' + 'Isotretinoin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_1940 Label(s): Shoulder and thorax deformity-congenital heart disease syndrome + 'Shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Holt-Oram syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2306 Label(s): Isotretinoin-like syndrome + 'Isotretinoin-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Isotretinoin-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3409 Label(s): Urban-Rogers-Meyer syndrome + 'Urban-Rogers-Meyer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Urban-Rogers-Meyer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2307 Label(s): IVIC syndrome + 'IVIC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'IVIC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'IVIC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'IVIC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_289347 Label(s): Infective dermatitis associated with HTLV-1 + 'Infective dermatitis associated with HTLV-1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' + 'Infective dermatitis associated with HTLV-1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_93222 Label(s): OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation + 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93221 Label(s): OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes + 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93220 Label(s): OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis + 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1205 Label(s): Mitral atresia + 'Mitral atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital mitral valve insufficiency and/or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_1208 Label(s): Pulmonary atresia-intact ventricular septum syndrome + 'Pulmonary atresia-intact ventricular septum syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypoplastic right heart syndrome' + 'Pulmonary atresia-intact ventricular septum syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary artery or pulmonary branch anomaly' Class: http://www.orpha.net/ORDO/Orphanet_769 Label(s): Rabson-Mendenhall syndrome + 'Rabson-Mendenhall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' + 'Rabson-Mendenhall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' Class: http://www.orpha.net/ORDO/Orphanet_767 Label(s): Polyarteritis nodosa + 'Polyarteritis nodosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' + 'Polyarteritis nodosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly medium-vessel vasculitis' + 'Polyarteritis nodosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_766 Label(s): Hemolytic anemia due to red cell pyruvate kinase deficiency + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_765 Label(s): Pyruvate dehydrogenase deficiency + 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with peripheral neuropathy' + 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate metabolism disorder' + 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_764 Label(s): Pyomyositis + 'Pyomyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' + 'Pyomyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_763 Label(s): Pycnodysostosis + 'Pycnodysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Pycnodysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' + 'Pycnodysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease' Class: http://www.orpha.net/ORDO/Orphanet_761 Label(s): Immunoglobulin A vasculitis + 'Immunoglobulin A vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis' + 'Immunoglobulin A vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' + 'Immunoglobulin A vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune complex mediated vasculitis' + 'Immunoglobulin A vasculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_760 Label(s): Purine nucleoside phosphorylase deficiency + 'Purine nucleoside phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' + 'Purine nucleoside phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Purine nucleoside phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_99832 Label(s): Resistance to thyrotropin-releasing hormone syndrome + 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central congenital hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_99831 Label(s): OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect + 'OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_25968 Label(s): Benign occipital epilepsy + 'Benign occipital epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_248111 Label(s): Juvenile Huntington disease + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with dementia' + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with chorea' + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_65683 Label(s): Isolated focal cortical dysplasia + 'Isolated focal cortical dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral cortical dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93216 Label(s): OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes + 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_138366 Label(s): fms related receptor tyrosine kinase 3 - 'fms related receptor tyrosine kinase 3' SubClassOf 'disease-causing somatic mutation(s) in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'fms related receptor tyrosine kinase 3' SubClassOf 'disease-causing somatic mutation(s) in' some 'B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)' Class: http://www.orpha.net/ORDO/Orphanet_93214 Label(s): OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation + 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93213 Label(s): OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis + 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314811 Label(s): Short stature due to GHSR deficiency + 'Short stature due to GHSR deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79400 Label(s): Localized epidermolysis bullosa simplex + 'Localized epidermolysis bullosa simplex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex without extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_619953 Label(s): Familial hyperinflammatory lymphoproliferative immunodeficiency + 'Familial hyperinflammatory lymphoproliferative immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'Familial hyperinflammatory lymphoproliferative immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79404 Label(s): Severe generalized junctional epidermolysis bullosa + 'Severe generalized junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with corneal involvement as a major feature' + 'Severe generalized junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Severe generalized junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with corneal involvement as a major feature' + 'Severe generalized junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Junctional epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_3411 Label(s): Double uterus-hemivagina-renal agenesis syndrome + 'Double uterus-hemivagina-renal agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Double uterus-hemivagina-renal agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic uterovaginal malformation' + 'Double uterus-hemivagina-renal agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_758 Label(s): Pseudoxanthoma elasticum + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cause of hypertension' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic central nervous system and retinal vascular disease' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial restrictive cardiomyopathy' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' + 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dermis elastic tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_757 Label(s): Pseudohypoaldosteronism type 2 + 'Pseudohypoaldosteronism type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cause of hypertension' + 'Pseudohypoaldosteronism type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Pseudohypoaldosteronism type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_756 Label(s): Pseudohypoaldosteronism type 1 + 'Pseudohypoaldosteronism type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoaldosteronism' + 'Pseudohypoaldosteronism type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_753 Label(s): 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to testicular endocrine disorder' Class: http://www.orpha.net/ORDO/Orphanet_752 Label(s): 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an adrenal disorder' + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to testicular endocrine disorder' + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to adrenal disorder of genetic origin' + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development due to testicular steroidogenesis defect' Class: http://www.orpha.net/ORDO/Orphanet_750 Label(s): Pseudoachondroplasia + 'Pseudoachondroplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' Class: http://www.orpha.net/ORDO/Orphanet_2315 Label(s): Johanson-Blizzard syndrome + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93209 Label(s): OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation + 'OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261349 Label(s): 2p15p16.1 microdeletion syndrome + '2p15p16.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 2' Class: http://www.orpha.net/ORDO/Orphanet_93206 Label(s): OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis + 'OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2318 Label(s): Joubert syndrome with oculorenal defect + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joubert syndrome and related disorders' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_65282 Label(s): Carvajal syndrome + 'Carvajal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with woolly hair' + 'Carvajal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Carvajal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' + 'Carvajal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Carvajal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_261344 Label(s): Trisomy 1q + 'Trisomy 1q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 1' Class: http://www.orpha.net/ORDO/Orphanet_1214 Label(s): Progressive hemifacial atrophy + 'Progressive hemifacial atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory and autoimmune disease with epilepsy' + 'Progressive hemifacial atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brain inflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_1969 Label(s): Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome + 'Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1215 Label(s): Autosomal dominant optic atrophy plus syndrome + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant optic atrophy' + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple mitochondrial DNA deletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_435988 Label(s): Chronic atrial and intestinal dysrhythmia syndrome + 'Chronic atrial and intestinal dysrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' + 'Chronic atrial and intestinal dysrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' + 'Chronic atrial and intestinal dysrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_79411 Label(s): Self-improving dystrophic epidermolysis bullosa + 'Self-improving dystrophic epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_619941 Label(s): Immune deficiency due to impaired neutrophil phagocytosis and migration + 'Immune deficiency due to impaired neutrophil phagocytosis and migration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional neutrophil defect' Class: http://www.orpha.net/ORDO/Orphanet_592894 Label(s): Acute disseminated encephalomyelitis with anti-MOG antibodies + 'Acute disseminated encephalomyelitis with anti-MOG antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute disseminated encephalomyelitis' Class: http://www.orpha.net/ORDO/Orphanet_65287 Label(s): Beta-ureidopropionase deficiency + 'Beta-ureidopropionase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic neurotransmission anomaly with epilepsy' + 'Beta-ureidopropionase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Beta-ureidopropionase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pyrimidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_747 Label(s): Autoimmune pulmonary alveolar proteinosis + 'Autoimmune pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to adulthood' Class: http://www.orpha.net/ORDO/Orphanet_263548 Label(s): Peeling skin syndrome type A + 'Peeling skin syndrome type A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Generalized peeling skin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_744 Label(s): Proteus syndrome + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurocutaneous syndrome with epilepsy' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic complex vascular malformation with associated anomalies' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex vascular malformation with associated anomalies' + 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' Class: http://www.orpha.net/ORDO/Orphanet_742 Label(s): Prolidase deficiency + 'Prolidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with skin involvement' + 'Prolidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Prolidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Prolidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' + 'Prolidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of peptide metabolism' Class: http://www.orpha.net/ORDO/Orphanet_741 Label(s): Familial mitral valve prolapse + 'Familial mitral valve prolapse' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital mitral valve insufficiency and/or stenosis' + 'Familial mitral valve prolapse' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' Class: http://www.orpha.net/ORDO/Orphanet_740 Label(s): Hutchinson-Gilford progeria syndrome + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with premature aging' + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99812 Label(s): LIG4 syndrome + 'LIG4 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'LIG4 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'LIG4 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'LIG4 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_99811 Label(s): Neuronal intestinal pseudoobstruction + 'Neuronal intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic intestinal pseudoobstruction' Class: http://www.orpha.net/ORDO/Orphanet_99810 Label(s): Familial porencephaly + 'Familial porencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Porencephaly' + 'Familial porencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy' Class: http://www.orpha.net/ORDO/Orphanet_1972 Label(s): Lethal faciocardiomelic dysplasia + 'Lethal faciocardiomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Lethal faciocardiomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Lethal faciocardiomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal faciocardiomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_487825 Label(s): Pierpont syndrome + 'Pierpont syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pierpont syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_261337 Label(s): Distal 22q11.2 microduplication syndrome + 'Distal 22q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 22' Class: http://www.orpha.net/ORDO/Orphanet_320355 Label(s): Autosomal dominant spastic paraplegia type 41 + 'Autosomal dominant spastic paraplegia type 41' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_163924 Label(s): OBSOLETE: Non-herpetic acute limbic encephalitis + 'OBSOLETE: Non-herpetic acute limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_261330 Label(s): Distal 22q11.2 microdeletion syndrome + 'Distal 22q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 22' Class: http://www.orpha.net/ORDO/Orphanet_63455 Label(s): Paraneoplastic pemphigus + 'Paraneoplastic pemphigus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune bullous skin disease' Class: http://www.orpha.net/ORDO/Orphanet_739 Label(s): Prader-Willi syndrome + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_737 Label(s): Porokeratosis plantaris palmaris et disseminata + 'Porokeratosis plantaris palmaris et disseminata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated punctate palmoplantar keratoderma' + 'Porokeratosis plantaris palmaris et disseminata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Porokeratosis' + 'Porokeratosis plantaris palmaris et disseminata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic porokeratosis' Class: http://www.orpha.net/ORDO/Orphanet_736 Label(s): Palmoplantar porokeratosis of Mantoux + 'Palmoplantar porokeratosis of Mantoux' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Punctate palmoplantar keratoderma type 2' Class: http://www.orpha.net/ORDO/Orphanet_733 Label(s): Familial adenomatous polyposis + 'Familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic digestive tract tumor' + 'Familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal polyposis' + 'Familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal polyposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_730 Label(s): Autosomal dominant polycystic kidney disease + 'Autosomal dominant polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Autosomal dominant polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with obstructive azoospermia' + 'Autosomal dominant polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with obstructive azoospermia' + 'Autosomal dominant polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Autosomal dominant polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' Class: http://www.orpha.net/ORDO/Orphanet_3426 Label(s): Double outlet right ventricle + 'Double outlet right ventricle' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' + 'Double outlet right ventricle' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Conotruncal heart malformations' Class: http://www.orpha.net/ORDO/Orphanet_1980 Label(s): Bilateral striopallidodentate calcinosis + 'Bilateral striopallidodentate calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Bilateral striopallidodentate calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare dementia' + 'Bilateral striopallidodentate calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Bilateral striopallidodentate calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Bilateral striopallidodentate calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dementia' Class: http://www.orpha.net/ORDO/Orphanet_2326 Label(s): Kallmann syndrome-heart disease syndrome + 'Kallmann syndrome-heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kallmann syndrome-heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' + 'Kallmann syndrome-heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3429 Label(s): Verloove Vanhorick-Brubakk syndrome + 'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_320360 Label(s): MT-ATP6-related mitochondrial spastic paraplegia + 'MT-ATP6-related mitochondrial spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex hereditary spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_1223 Label(s): Balantidiasis + 'Balantidiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_166421 Label(s): Orgasm-induced seizures + 'Orgasm-induced seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Reflex epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_261323 Label(s): 21q22.11q22.12 microdeletion syndrome + '21q22.11q22.12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '21q22.11q22.12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 21' + '21q22.11q22.12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '21q22.11q22.12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with a chromosomal anomaly' + '21q22.11q22.12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_448242 Label(s): Autosomal recessive brachyolmia + 'Autosomal recessive brachyolmia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brachyolmia' Class: http://www.orpha.net/ORDO/Orphanet_83639 Label(s): Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_63446 Label(s): Acrocapitofemoral dysplasia + 'Acrocapitofemoral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1227 Label(s): Bangstad syndrome + 'Bangstad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polyendocrinopathy' + 'Bangstad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic polyendocrinopathy' Class: http://www.orpha.net/ORDO/Orphanet_79434 Label(s): Oculocutaneous albinism type 1B + 'Oculocutaneous albinism type 1B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Oculocutaneous albinism type 1B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism type 1' + 'Oculocutaneous albinism type 1B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_729 Label(s): Polycythemia vera + 'Polycythemia vera' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloproliferative neoplasm' + 'Polycythemia vera' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_727 Label(s): Microscopic polyangiitis + 'Microscopic polyangiitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' + 'Microscopic polyangiitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Microscopic polyangiitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_497764 Label(s): Spinocerebellar ataxia type 43 + 'Spinocerebellar ataxia type 43' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_725 Label(s): Continuous spikes and waves during sleep + 'Continuous spikes and waves during sleep' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_724 Label(s): Idiopathic acute eosinophilic pneumonia + 'Idiopathic acute eosinophilic pneumonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic eosinophilic pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_723 Label(s): Pneumocystosis + 'Pneumocystosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_721 Label(s): Gray platelet syndrome + 'Gray platelet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha granule disease' Class: http://www.orpha.net/ORDO/Orphanet_720 Label(s): Pili bifurcati + 'Pili bifurcati' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_261318 Label(s): Trisomy 20p + 'Trisomy 20p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_313795 Label(s): Jawad syndrome + 'Jawad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Jawad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Jawad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_592869 Label(s): Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies + 'Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromyelitis optica spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_79443 Label(s): Pseudohypoparathyroidism type 1A + 'Pseudohypoparathyroidism type 1A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Pseudohypoparathyroidism type 1A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_438207 Label(s): Severe autosomal recessive macrothrombocytopenia + 'Severe autosomal recessive macrothrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hereditary giant platelet disorder' Class: http://www.orpha.net/ORDO/Orphanet_231573 Label(s): Congenital erosive and vesicular dermatosis + 'Congenital erosive and vesicular dermatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_717 Label(s): OBSOLETE: Catecholamine-producing tumor + 'OBSOLETE: Catecholamine-producing tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Adrenal/paraganglial tumor' Class: http://www.orpha.net/ORDO/Orphanet_715 Label(s): Glycogen storage disease due to muscle phosphorylase kinase deficiency + 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to phosphorylase kinase deficiency' + 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' Class: http://www.orpha.net/ORDO/Orphanet_714 Label(s): Hemolytic anemia due to diphosphoglycerate mutase deficiency + 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_712 Label(s): Hemolytic anemia due to glucophosphate isomerase deficiency + 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycolysis' Class: http://www.orpha.net/ORDO/Orphanet_711 Label(s): Glycogen storage disease due to phosphoglucomutase deficiency + 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf http://www.orpha.net/ORDO/moved_to some 'PGM1-CDG' Class: http://www.orpha.net/ORDO/Orphanet_3439 Label(s): Von Voss-Cherstvoy syndrome + 'Von Voss-Cherstvoy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Von Voss-Cherstvoy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_300536 Label(s): DDOST-CDG + 'DDOST-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' + 'DDOST-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'DDOST-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'DDOST-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_261304 Label(s): Paternal 20q13.2q13.3 microdeletion syndrome + 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_313781 Label(s): 20p13 microdeletion syndrome + '20p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '20p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '20p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_589595 Label(s): Mixed phenotype acute leukemia with t(v;11q23.3) + 'Mixed phenotype acute leukemia with t(v;11q23.3)' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed phenotype acute leukemia' Class: http://www.orpha.net/ORDO/Orphanet_592856 Label(s): Neuromyelitis optica spectrum disorder with anti-MOG antibodies + 'Neuromyelitis optica spectrum disorder with anti-MOG antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromyelitis optica spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_1237 Label(s): Beemer-Ertbruggen syndrome + 'Beemer-Ertbruggen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Beemer-Ertbruggen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_79456 Label(s): Diffuse cutaneous mastocytosis + 'Diffuse cutaneous mastocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutaneous mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_79457 Label(s): Maculopapular cutaneous mastocytosis + 'Maculopapular cutaneous mastocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutaneous mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_707 Label(s): Plague + 'Plague' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_705 Label(s): Pendred syndrome + 'Pendred syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' + 'Pendred syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_704 Label(s): Pemphigus vulgaris + 'Pemphigus vulgaris' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune bullous skin disease' Class: http://www.orpha.net/ORDO/Orphanet_703 Label(s): Bullous pemphigoid + 'Bullous pemphigoid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune bullous skin disease' Class: http://www.orpha.net/ORDO/Orphanet_702 Label(s): Pelizaeus-Merzbacher disease + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_77259 Label(s): Gaucher disease type 1 + 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary disease with avascular necrosis' + 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gaucher disease' + 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' + 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral lipidosis with dementia' + 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_700 Label(s): Alopecia totalis + 'Alopecia totalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_263501 Label(s): COG4-CDG + 'COG4-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'COG4-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Defect in conserved oligomeric Golgi complex' + 'COG4-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' + 'COG4-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163931 Label(s): Acrodermatitis continua of Hallopeau + 'Acrodermatitis continua of Hallopeau' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Acrodermatitis continua of Hallopeau' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' Class: http://www.orpha.net/ORDO/Orphanet_178029 Label(s): Central diabetes insipidus + 'Central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary deficiency' Class: http://www.orpha.net/ORDO/Orphanet_300547 Label(s): Autosomal recessive infantile hypercalcemia + 'Autosomal recessive infantile hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' + 'Autosomal recessive infantile hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' + 'Autosomal recessive infantile hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Autosomal recessive infantile hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_35889 Label(s): Acute opioid poisoning + 'Acute opioid poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_313772 Label(s): Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome + 'Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive spastic ataxia' + 'Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA depletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2486 Label(s): Transverse limb deficiency-hemangioma syndrome + 'Transverse limb deficiency-hemangioma syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Familial cerebral cavernous malformation' Class: http://www.orpha.net/ORDO/Orphanet_320396 Label(s): Autosomal recessive spastic paraplegia type 45 + 'Autosomal recessive spastic paraplegia type 45' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive spastic paraplegia type 45' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal recessive spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_228299 Label(s): Mid-dermal elastolysis + 'Mid-dermal elastolysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_90396 Label(s): Acral persistent papular mucinosis + 'Acral persistent papular mucinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_438216 Label(s): PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation + 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231556 Label(s): Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome + 'Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Junctional epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_228293 Label(s): Pseudoxanthoma elasticum-like papillary dermal elastolysis + 'Pseudoxanthoma elasticum-like papillary dermal elastolysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_79466 Label(s): Inflammatory linear verrucous epidermal nevus + 'Inflammatory linear verrucous epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Linear verrucous nevus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228290 Label(s): White fibrous papulosis of the neck + 'White fibrous papulosis of the neck' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_2343 Label(s): OBSOLETE: Isolated cloverleaf skull syndrome + 'OBSOLETE: Isolated cloverleaf skull syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic non-specific multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_3446 Label(s): Weaver-like syndrome + 'Weaver-like syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Weaver syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3447 Label(s): Weaver syndrome + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2345 Label(s): Isolated Klippel-Feil syndrome + 'Isolated Klippel-Feil syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Isolated Klippel-Feil syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_1240 Label(s): Metaphyseal acroscyphodysplasia + 'Metaphyseal acroscyphodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' + 'Metaphyseal acroscyphodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Metaphyseal acroscyphodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_465824 Label(s): Fetal encasement syndrome + 'Fetal encasement syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb malformations as a major feature' + 'Fetal encasement syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb malformations as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_436159 Label(s): Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency + 'Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic autoimmune enteropathy' + 'Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2348 Label(s): Familial partial lipodystrophy, Dunnigan type + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with lipodystrophy' + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1243 Label(s): Best vitelliform macular dystrophy + 'Best vitelliform macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_35878 Label(s): Hyperinsulinism-hyperammonemia syndrome + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of urea cycle metabolism and ammonia detoxification' Class: http://www.orpha.net/ORDO/Orphanet_1245 Label(s): BIDS syndrome + 'BIDS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1246 Label(s): Brachydactyly-nystagmus-cerebellar ataxia syndrome + 'Brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_228285 Label(s): Acquired cutis laxa + 'Acquired cutis laxa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_1248 Label(s): Maxillonasal dysplasia + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_436166 Label(s): Periodic fever-infantile enterocolitis-autoinflammatory syndrome + 'Periodic fever-infantile enterocolitis-autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'Periodic fever-infantile enterocolitis-autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' + 'Periodic fever-infantile enterocolitis-autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary periodic fever syndrome' + 'Periodic fever-infantile enterocolitis-autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_300564 Label(s): Combined pulmonary fibrosis-emphysema syndrome + 'Combined pulmonary fibrosis-emphysema syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_436169 Label(s): Thrombomodulin-related bleeding disorder + 'Thrombomodulin-related bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_79481 Label(s): Pemphigus foliaceus + 'Pemphigus foliaceus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial pemphigus' Class: http://www.orpha.net/ORDO/Orphanet_79485 Label(s): Phakomatosis spilorosea + 'Phakomatosis spilorosea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Phakomatosis pigmentovascularis' Class: http://www.orpha.net/ORDO/Orphanet_79486 Label(s): Cystic hygroma + 'Cystic hygroma' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Macrocystic lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_431272 Label(s): X-linked scapuloperoneal muscular dystrophy + 'X-linked scapuloperoneal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late-onset scapuloperoneal muscular dystrophy with hyaline bodies' Class: http://www.orpha.net/ORDO/Orphanet_2351 Label(s): Kousseff syndrome + 'Kousseff syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_611216 Label(s): Aplastic anemia-intellectual disability-dwarfism syndrome + 'Aplastic anemia-intellectual disability-dwarfism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Aplastic anemia-intellectual disability-dwarfism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Aplastic anemia-intellectual disability-dwarfism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Aplastic anemia-intellectual disability-dwarfism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_2353 Label(s): Schilbach-Rott syndrome + 'Schilbach-Rott syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Schilbach-Rott syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Schilbach-Rott syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_300570 Label(s): Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation + 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' + 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2355 Label(s): Kumar-Levick syndrome + 'Kumar-Levick syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cooks syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397596 Label(s): Activated PI3K-delta syndrome + 'Activated PI3K-delta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Agammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_300573 Label(s): Polymicrogyria due to TUBB2B mutation + 'Polymicrogyria due to TUBB2B mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Polymicrogyria due to TUBB2B mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Polymicrogyria due to TUBB2B mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Polymicrogyria due to TUBB2B mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Polymicrogyria due to TUBB2B mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_45448 Label(s): Miyoshi myopathy + 'Miyoshi myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal myopathy' + 'Miyoshi myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of dysferlin' Class: http://www.orpha.net/ORDO/Orphanet_397593 Label(s): Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency + 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' Class: http://www.orpha.net/ORDO/Orphanet_300576 Label(s): Oligodontia-cancer predisposition syndrome + 'Oligodontia-cancer predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Oligodontia-cancer predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_397590 Label(s): Silver-Russell syndrome due to a point mutation + 'Silver-Russell syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Silver-Russell syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35858 Label(s): Imerslund-Gräsbeck syndrome + 'Imerslund-Gräsbeck syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Imerslund-Gräsbeck syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal disease due to vitamin absorption anomaly' + 'Imerslund-Gräsbeck syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Imerslund-Gräsbeck syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of cobalamin metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_43117 Label(s): Acute tricyclic antidepressant poisoning + 'Acute tricyclic antidepressant poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_2497 Label(s): Upper limb mesomelic dysplasia + 'Upper limb mesomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1256 Label(s): OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome + 'OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_228264 Label(s): Papular elastorrhexis + 'Papular elastorrhexis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_79495 Label(s): X-linked congenital generalized hypertrichosis + 'X-linked congenital generalized hypertrichosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypertrichosis lanuginosa congenita' Class: http://www.orpha.net/ORDO/Orphanet_77297 Label(s): Majeed syndrome + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional dyserythropoietic anemia' + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome of childhood' + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome' + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic inflammatory or rheumatoid-like osteoarthropathy' Class: http://www.orpha.net/ORDO/Orphanet_77298 Label(s): Anophthalmia/microphthalmia-esophageal atresia syndrome + 'Anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic esophageal malformation' + 'Anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndromic esophageal malformation' Class: http://www.orpha.net/ORDO/Orphanet_436182 Label(s): Microcephalic primordial dwarfism-insulin resistance syndrome + 'Microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + 'Microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397587 Label(s): Deep dermatophytosis + 'Deep dermatophytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_163699 Label(s): Alveolar soft tissue sarcoma + 'Alveolar soft tissue sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_75567 Label(s): Primary progressive freezing gait + 'Primary progressive freezing gait' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_163696 Label(s): Action myoclonus-renal failure syndrome + 'Action myoclonus-renal failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Action myoclonus-renal failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75564 Label(s): Acquired idiopathic sideroblastic anemia + 'Acquired idiopathic sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sideroblastic anemia' + 'Acquired idiopathic sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163693 Label(s): 2p21 microdeletion syndrome + '2p21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypotonia-cystinuria type 1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_589547 Label(s): GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder + 'GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' Class: http://www.orpha.net/ORDO/Orphanet_163690 Label(s): Hypotonia-cystinuria syndrome + 'Hypotonia-cystinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypotonia-cystinuria type 1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_589542 Label(s): Myeloid/lymphoid neoplasm associated with JAK2 rearrangement + 'Myeloid/lymphoid neoplasm associated with JAK2 rearrangement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' Class: http://www.orpha.net/ORDO/Orphanet_1221 Label(s): Cheilitis glandularis + 'Cheilitis glandularis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_33208 Label(s): Idiopathic hypersomnia + 'Idiopathic hypersomnia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare sleep disorder' Class: http://www.orpha.net/ORDO/Orphanet_435660 Label(s): LIPE-related familial partial lipodystrophy + 'LIPE-related familial partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1260 Label(s): OBSOLETE: Sino-auricular heart block + 'OBSOLETE: Sino-auricular heart block' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial sick sinus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1263 Label(s): Boomerang dysplasia + 'Boomerang dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' + 'Boomerang dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filamin-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_163684 Label(s): Leukoencephalopathy-dystonia-motor neuropathy syndrome + 'Leukoencephalopathy-dystonia-motor neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal beta-oxidation disorder' + 'Leukoencephalopathy-dystonia-motor neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_163681 Label(s): CNTNAP2-related developmental and epileptic encephalopathy + 'CNTNAP2-related developmental and epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228247 Label(s): Acquired pseudoxanthoma elasticum + 'Acquired pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_589534 Label(s): Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) + 'Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed phenotype acute leukemia' Class: http://www.orpha.net/ORDO/Orphanet_93939 Label(s): Laryngotracheoesophageal cleft type 2 + 'Laryngotracheoesophageal cleft type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laryngotracheoesophageal cleft' Class: http://www.orpha.net/ORDO/Orphanet_402026 Label(s): Acute myeloid leukemia with NPM1 somatic mutations + 'Acute myeloid leukemia with NPM1 somatic mutations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_228240 Label(s): Elastoderma + 'Elastoderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_231500 Label(s): Hermansky-Pudlak syndrome due to BLOC-3 deficiency + 'Hermansky-Pudlak syndrome due to BLOC-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' + 'Hermansky-Pudlak syndrome due to BLOC-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hermansky-Pudlak syndrome' Class: http://www.orpha.net/ORDO/Orphanet_435651 Label(s): CIDEC-related familial partial lipodystrophy + 'CIDEC-related familial partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_275766 Label(s): Idiopathic pulmonary arterial hypertension + 'Idiopathic pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic/heritable pulmonary arterial hypertension' Class: http://www.orpha.net/ORDO/Orphanet_293948 Label(s): 1p21.3 microdeletion syndrome + '1p21.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + '1p21.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 1' + '1p21.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163678 Label(s): OBSOLETE: Unclassified spondylometaphyseal dysplasia + 'OBSOLETE: Unclassified spondylometaphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_163673 Label(s): Spondyloepiphyseal dysplasia, Byers type + 'Spondyloepiphyseal dysplasia, Byers type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Spondyloepiphyseal dysplasia tarda' Class: http://www.orpha.net/ORDO/Orphanet_589527 Label(s): Spinocerebellar ataxia type 45 + 'Spinocerebellar ataxia type 45' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type III' Class: http://www.orpha.net/ORDO/Orphanet_595098 Label(s): Timothy syndrome type 1 + 'Timothy syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Timothy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_589522 Label(s): Spinocerebellar ataxia type 46 + 'Spinocerebellar ataxia type 46' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebellar ataxia with peripheral neuropathy' + 'Spinocerebellar ataxia type 46' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_284411 Label(s): Glycerol kinase deficiency, juvenile form + 'Glycerol kinase deficiency, juvenile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated glycerol kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_3471 Label(s): Young syndrome + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with obstructive azoospermia' + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with obstructive azoospermia' + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_2371 Label(s): Lethal Larsen-like syndrome + 'Lethal Larsen-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' + 'Lethal Larsen-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' Class: http://www.orpha.net/ORDO/Orphanet_284973 Label(s): Marfan syndrome type 2 + 'Marfan syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2372 Label(s): Laryngocele + 'Laryngocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_281190 Label(s): Congenital reticular ichthyosiform erythroderma + 'Congenital reticular ichthyosiform erythroderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Keratinopathic ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_2374 Label(s): Congenital laryngeal web + 'Congenital laryngeal web' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic larynx anomaly' + 'Congenital laryngeal web' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2377 Label(s): Laurence-Moon syndrome + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in Bardet-Biedl gene' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_163668 Label(s): Spondyloepiphyseal dysplasia, MacDermot type + 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_280576 Label(s): Nestor-Guillermo progeria syndrome + 'Nestor-Guillermo progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Nestor-Guillermo progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lipodystrophy' + 'Nestor-Guillermo progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' + 'Nestor-Guillermo progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Nestor-Guillermo progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163665 Label(s): Spondyloepiphyseal dysplasia tarda, Kohn type + 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_163662 Label(s): Spondyloepiphyseal dysplasia, Reardon type + 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_589515 Label(s): PUM1-associated developmental disability-ataxia-seizure syndrome + 'PUM1-associated developmental disability-ataxia-seizure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'PUM1-associated developmental disability-ataxia-seizure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' + 'PUM1-associated developmental disability-ataxia-seizure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_435638 Label(s): 3p25.3 microdeletion syndrome + '3p25.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 3' + '3p25.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_599495 Label(s): Acquired factor VII deficiency + 'Acquired factor VII deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_118476 Label(s): SBDS ribosome maturation factor + 'SBDS ribosome maturation factor' SubClassOf 'disease-causing germline mutation(s) in' some 'SBDS-related severe neonatal spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_431220 Label(s): mechanistic target of rapamycin kinase + 'mechanistic target of rapamycin kinase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Hemimegalencephaly' Class: http://www.orpha.net/ORDO/Orphanet_599490 Label(s): Acquired factor V deficiency + 'Acquired factor V deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_1329 Label(s): Complete atrioventricular septal defect + 'Complete atrioventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atrioventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_513436 Label(s): Autosomal recessive spastic paraplegia type 78 + 'Autosomal recessive spastic paraplegia type 78' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_280586 Label(s): Chondrodysplasia with joint dislocations, gPAPP type + 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_163654 Label(s): Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome + 'Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2380 Label(s): Legg-Calvé-Perthes disease + 'Legg-Calvé-Perthes disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Legg-Calvé-Perthes disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_435623 Label(s): OBSOLETE: Adactyly of foot + 'OBSOLETE: Adactyly of foot' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic limb reduction defect' Class: http://www.orpha.net/ORDO/Orphanet_599480 Label(s): Acquired hemophilia A + 'Acquired hemophilia A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_163649 Label(s): Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome + 'Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2388 Label(s): Choreoacanthocytosis + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroacanthocytosis' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with epilepsy' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2389 Label(s): Lewis-Pashayan syndrome + 'Lewis-Pashayan syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'EEC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2003 Label(s): Cleft lip/palate-deafness-sacral lipoma syndrome + 'Cleft lip/palate-deafness-sacral lipoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Cleft lip/palate-deafness-sacral lipoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2006 Label(s): Median cleft lip/mandibule + 'Median cleft lip/mandibule' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Median facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_369992 Label(s): Severe dermatitis-multiple allergies-metabolic wasting syndrome + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyper-IgE syndrome' + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare allergic disease' Class: http://www.orpha.net/ORDO/Orphanet_75508 Label(s): Angioosteohypotrophic syndrome + 'Angioosteohypotrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital vascular bone syndrome' + 'Angioosteohypotrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex vascular malformation with associated anomalies' Class: http://www.orpha.net/ORDO/Orphanet_163634 Label(s): Maffucci syndrome + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic complex vascular malformation with associated anomalies' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex vascular malformation with associated anomalies' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_447795 Label(s): Lipoyl transferase 2 deficiency + 'Lipoyl transferase 2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Biological anomaly without phenotypic characterization' Class: http://www.orpha.net/ORDO/Orphanet_141107 Label(s): Nasopharyngeal teratoma + 'Nasopharyngeal teratoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' + 'Nasopharyngeal teratoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal teratoma' Class: http://www.orpha.net/ORDO/Orphanet_50809 Label(s): Talo-patello-scaphoid osteolysis + 'Talo-patello-scaphoid osteolysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_2391 Label(s): Congenitally short costocoracoid ligament + 'Congenitally short costocoracoid ligament' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_240913 Label(s): OBSOLETE: Simvastatin toxicity + 'OBSOLETE: Simvastatin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_2016 Label(s): Cleft palate-lateral synechia syndrome + 'Cleft palate-lateral synechia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft palate-lateral synechia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft palate-lateral synechia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2017 Label(s): Sternal cleft + 'Sternal cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' + 'Sternal cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic diaphragmatic or thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_2394 Label(s): Pyruvate dehydrogenase E3 deficiency + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lipoic acid biosynthesis defect' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2396 Label(s): Encephalocraniocutaneous lipomatosis + 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic subcutaneous tissue disorder' + 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' + 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_1292 Label(s): Brachymorphism-onychodysplasia-dysphalangism syndrome + 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_50918 Label(s): Kikuchi-Fujimoto disease + 'Kikuchi-Fujimoto disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_50810 Label(s): Microlissencephaly-micromelia syndrome + 'Microlissencephaly-micromelia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microlissencephaly-micromelia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microlissencephaly-micromelia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_50811 Label(s): Lipodystrophy-intellectual disability-deafness syndrome + 'Lipodystrophy-intellectual disability-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lipodystrophy' + 'Lipodystrophy-intellectual disability-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lipodystrophy-intellectual disability-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lipodystrophy-intellectual disability-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Lipodystrophy-intellectual disability-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + 'Lipodystrophy-intellectual disability-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with defective bone mineralization' + 'Lipodystrophy-intellectual disability-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Lipodystrophy-intellectual disability-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_447788 Label(s): Cerebral visual impairment + 'Cerebral visual impairment' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' + 'Cerebral visual impairment' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_1296 Label(s): Lambert syndrome + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Otomandibular dysplasia associated with monogenic syndromes' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1297 Label(s): Branchio-oculo-facial syndrome + 'Branchio-oculo-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Branchio-oculo-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Branchio-oculo-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_238593 Label(s): IgG4-related mesenteritis + 'IgG4-related mesenteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' + 'IgG4-related mesenteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_240923 Label(s): OBSOLETE: Warfarine toxicity + 'OBSOLETE: Warfarine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_369979 Label(s): Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome + 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_227786 Label(s): OBSOLETE: Familial flecked retinopathy + 'OBSOLETE: Familial flecked retinopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_500163 Label(s): Witteveen-Kolk syndrome + 'Witteveen-Kolk syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Witteveen-Kolk syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2029 Label(s): Multiple non-ossifying fibromatosis + 'Multiple non-ossifying fibromatosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Neurofibromatosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_180086 Label(s): Didelphys uterus + 'Didelphys uterus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bicornuate uterus' Class: http://www.orpha.net/ORDO/Orphanet_502499 Label(s): Erythema multiforme major + 'Erythema multiforme major' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic dermatosis' Class: http://www.orpha.net/ORDO/Orphanet_369970 Label(s): Microcornea-myopic chorioretinal atrophy-telecanthus syndrome + 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic chorioretinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_251515 Label(s): Distal arthrogryposis type 10 + 'Distal arthrogryposis type 10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_505652 Label(s): CDKL5-deficiency disorder + 'CDKL5-deficiency disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pervasive developmental disorder' + 'CDKL5-deficiency disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Motor stereotypies' + 'CDKL5-deficiency disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'CDKL5-deficiency disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_447777 Label(s): Keratocystic odontogenic tumor + 'Keratocystic odontogenic tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontogenic tumor' Class: http://www.orpha.net/ORDO/Orphanet_506124 Label(s): OBSOLETE: Neuroendocrine tumor of small intestine + 'OBSOLETE: Neuroendocrine tumor of small intestine' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuroendocrine tumor of the small intestine' Class: http://www.orpha.net/ORDO/Orphanet_447774 Label(s): Secondary sclerosing cholangitis + 'Secondary sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sclerosing cholangitis' Class: http://www.orpha.net/ORDO/Orphanet_281139 Label(s): Annular epidermolytic ichthyosis + 'Annular epidermolytic ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Keratinopathic ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_570762 Label(s): Infective endocarditis + 'Infective endocarditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' + 'Infective endocarditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_508410 Label(s): Familial intestinal malrotation + 'Familial intestinal malrotation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2031 Label(s): Hepatic fibrosis-renal cysts-intellectual disability syndrome + 'Hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_535458 Label(s): Familial GPIHBP1 deficiency + 'Familial GPIHBP1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial chylomicronemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118423 Label(s): RUNX family transcription factor 1 - 'RUNX family transcription factor 1' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' Class: http://www.orpha.net/ORDO/Orphanet_240937 Label(s): OBSOLETE: Resistance to fluindione in venous thrombosis and atrial fibrillation + 'OBSOLETE: Resistance to fluindione in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_284435 Label(s): Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to lactate dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_369962 Label(s): Methylmalonic acidemia with homocystinuria, type cblX + 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Methylmalonic acidemia with homocystinuria' Class: http://www.orpha.net/ORDO/Orphanet_251393 Label(s): Localized junctional epidermolysis bullosa + 'Localized junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Localized junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Junctional epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_529980 Label(s): Inflammatory bowel disease-recurrent sinopulmonary infections syndrome + 'Inflammatory bowel disease-recurrent sinopulmonary infections syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune dysregulation with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_609991 Label(s): 4-hydroxyphenylpyruvate dioxygenase like + '4-hydroxyphenylpyruvate dioxygenase like' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_631076 Class: http://www.orpha.net/ORDO/Orphanet_228418 Label(s): OBSOLETE: Microcephaly-seizures-developmental delay syndrome + 'OBSOLETE: Microcephaly-seizures-developmental delay syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_227796 Label(s): Fundus albipunctatus + 'Fundus albipunctatus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_85458 Label(s): Hereditary cerebral hemorrhage with amyloidosis + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebral small vessel disease' + 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cerebrovascular dementia' Class: http://www.orpha.net/ORDO/Orphanet_1193 Label(s): Atkin-Flaitz syndrome + 'Atkin-Flaitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atkin-Flaitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_447764 Label(s): IgG4-related sclerosing cholangitis + 'IgG4-related sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' + 'IgG4-related sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sclerosing cholangitis' Class: http://www.orpha.net/ORDO/Orphanet_85453 Label(s): X-linked reticulate pigmentary disorder + 'X-linked reticulate pigmentary disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'X-linked reticulate pigmentary disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune dysregulation disease with immunodeficiency' + 'X-linked reticulate pigmentary disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' + 'X-linked reticulate pigmentary disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'X-linked reticulate pigmentary disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'X-linked reticulate pigmentary disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_85451 Label(s): ATTRV122I amyloidosis + 'ATTRV122I amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for heart transplant' + 'ATTRV122I amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary ATTR amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_85450 Label(s): Hereditary amyloidosis with primary renal involvement + 'Hereditary amyloidosis with primary renal involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic systemic disease with glomerulopathy as a major feature' + 'Hereditary amyloidosis with primary renal involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary amyloidosis' + 'Hereditary amyloidosis with primary renal involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_2042 Label(s): OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome + 'OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Esophageal atresia' Class: http://www.orpha.net/ORDO/Orphanet_281122 Label(s): Self-improving collodion baby + 'Self-improving collodion baby' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_485275 Label(s): Acquired schizencephaly + 'Acquired schizencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Schizencephaly' Class: http://www.orpha.net/ORDO/Orphanet_2047 Label(s): Flynn-Aird syndrome + 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neurological disorder' + 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' + 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_369955 Label(s): Methylmalonic acidemia with homocystinuria, type cblJ + 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Methylmalonic acidemia with homocystinuria' Class: http://www.orpha.net/ORDO/Orphanet_3392 Label(s): Tularemia + 'Tularemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_251383 Label(s): CK syndrome + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sterol biosynthesis disorder' + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_3390 Label(s): Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome + 'Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Kearns-Sayre syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251380 Label(s): Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome + 'Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sickle cell disease associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_529970 Label(s): Male infertility due to acephalic spermatozoa + 'Male infertility due to acephalic spermatozoa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility with teratozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_1188 Label(s): Ataxia-deafness-intellectual disability syndrome + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked cerebellar ataxia' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_1187 Label(s): Lethal ataxia with deafness and optic atrophy + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked cerebellar ataxia' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_1186 Label(s): Infantile-onset spinocerebellar ataxia + 'Infantile-onset spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Infantile-onset spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' Class: http://www.orpha.net/ORDO/Orphanet_85448 Label(s): AGel amyloidosis + 'AGel amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary amyloidosis' + 'AGel amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' + 'AGel amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary systemic disease with peripheral neuropathy' + 'AGel amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_85447 Label(s): ATTRV30M amyloidosis + 'ATTRV30M amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary ATTR amyloidosis' + 'ATTRV30M amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary systemic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_85446 Label(s): Wild type ABeta2M amyloidosis + 'Wild type ABeta2M amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ABeta2M amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_85445 Label(s): AA amyloidosis + 'AA amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial restrictive cardiomyopathy' + 'AA amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amyloidosis' + 'AA amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired amyloid peripheral neuropathy' + 'AA amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_447753 Label(s): Autosomal dominant spastic paraplegia type 9A + 'Autosomal dominant spastic paraplegia type 9A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Autosomal dominant spastic paraplegia type 9A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 9A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_85443 Label(s): AL amyloidosis + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Plasma cell tumor' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired amyloid peripheral neuropathy' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial hypertrophic cardiomyopathy' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial restrictive cardiomyopathy' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_85442 Label(s): Short stature-pituitary and cerebellar defects-small sella turcica syndrome + 'Short stature-pituitary and cerebellar defects-small sella turcica syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disease associated with non-acquired combined pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2050 Label(s): Cole-Carpenter syndrome + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2052 Label(s): Fraser syndrome + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cryptophthalmia' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3389 Label(s): Tuberculosis + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency secondary to a granulomatous disease' + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with obstructive azoospermia' + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_3386 Label(s): American trypanosomiasis + 'American trypanosomiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_3385 Label(s): African trypanosomiasis + 'African trypanosomiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_240959 Label(s): OBSOLETE: Susceptibility to adverse reaction due to antipsychotics treatment + 'OBSOLETE: Susceptibility to adverse reaction due to antipsychotics treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_251375 Label(s): Sickle cell-hemoglobin E disease syndrome + 'Sickle cell-hemoglobin E disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sickle cell disease associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_369942 Label(s): CADDS + 'CADDS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'CADDS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental anomaly of metabolic origin' + 'CADDS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'CADDS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'CADDS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal disease' Class: http://www.orpha.net/ORDO/Orphanet_3380 Label(s): Trisomy 18 + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_1179 Label(s): Benign paroxysmal tonic upgaze of childhood with ataxia + 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare paroxysmal movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_1178 Label(s): Ataxia-tapetoretinal degeneration syndrome + 'Ataxia-tapetoretinal degeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_1177 Label(s): Early-onset cerebellar ataxia with retained tendon reflexes + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive degenerative and progressive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_85438 Label(s): Enthesitis-related juvenile idiopathic arthritis + 'Enthesitis-related juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with anterior uveitis' + 'Enthesitis-related juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_85436 Label(s): Psoriasis-related juvenile idiopathic arthritis + 'Psoriasis-related juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_85435 Label(s): Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis + 'Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polyarticular juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_599418 Label(s): Hereditary angioedema with normal C1Inh not related to F12 or PLG variant + 'Hereditary angioedema with normal C1Inh not related to F12 or PLG variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary angioedema with normal C1Inh' Class: http://www.orpha.net/ORDO/Orphanet_89845 Label(s): OBSOLETE: Idiopathic hydrops fetalis + 'OBSOLETE: Idiopathic hydrops fetalis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-immune hydrops fetalis' Class: http://www.orpha.net/ORDO/Orphanet_89844 Label(s): Lissencephaly syndrome, Norman-Roberts type + 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microlissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_89843 Label(s): Dystrophic epidermolysis bullosa pruriginosa + 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_89842 Label(s): Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form + 'Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dystrophic epidermolysis bullosa' + 'Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with corneal involvement as a major feature' + 'Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with corneal involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_89841 Label(s): OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa + 'OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form' Class: http://www.orpha.net/ORDO/Orphanet_89840 Label(s): OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type + 'OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Intermediate generalized junctional epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_369939 Label(s): Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with dystonia and other neurologic or systemic manifestation' Class: http://www.orpha.net/ORDO/Orphanet_3377 Label(s): Trismus-pseudocamptodactyly syndrome + 'Trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_240967 Label(s): OBSOLETE: Susceptibility to adverse reaction due to codeine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to codeine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_263463 Label(s): CHST3-related skeletal dysplasia + 'CHST3-related skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosylglycan synthesis' + 'CHST3-related skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'CHST3-related skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_263676 Label(s): OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features + 'OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Inherited epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_597201 Label(s): TRIM22-related inflammatory bowel disease + 'TRIM22-related inflammatory bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory bowel disease' + 'TRIM22-related inflammatory bowel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_443328 Label(s): OBSOLETE: HIV-related Kaposi sarcoma + 'OBSOLETE: HIV-related Kaposi sarcoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_1168 Label(s): Ataxia-oculomotor apraxia type 1 + 'Ataxia-oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Ataxia-oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Coenzyme Q10 deficiency' + 'Ataxia-oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Ataxia-oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' Class: http://www.orpha.net/ORDO/Orphanet_443325 Label(s): OBSOLETE: HIV-related Non-Hodgkin lymphoma + 'OBSOLETE: HIV-related Non-Hodgkin lymphoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_447737 Label(s): DOCK2 deficiency + 'DOCK2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_1164 Label(s): Allergic bronchopulmonary aspergillosis + 'Allergic bronchopulmonary aspergillosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare allergic respiratory disease' + 'Allergic bronchopulmonary aspergillosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_443322 Label(s): OBSOLETE: HIV-related cervical cancer + 'OBSOLETE: HIV-related cervical cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_89838 Label(s): Autosomal recessive generalized epidermolysis bullosa simplex + 'Autosomal recessive generalized epidermolysis bullosa simplex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex without extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_241960 Label(s): cytochrome P450 family 2 subfamily C member 19 - 'cytochrome P450 family 2 subfamily C member 19' SubClassOf 'candidate gene tested in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'cytochrome P450 family 2 subfamily C member 19' SubClassOf 'candidate gene tested in' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_447731 Label(s): NIK deficiency + 'NIK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_89833 Label(s): Palmoplantar keratoderma with tonotubular keratin + 'Palmoplantar keratoderma with tonotubular keratin' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Epidermolytic palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_2073 Label(s): Narcolepsy type 1 + 'Narcolepsy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Narcolepsy' Class: http://www.orpha.net/ORDO/Orphanet_521127 Label(s): Osteoradionecrosis of the mandible + 'Osteoradionecrosis of the mandible' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteonecrosis' + 'Osteoradionecrosis of the mandible' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Radiation-induced disorder' Class: http://www.orpha.net/ORDO/Orphanet_240975 Label(s): OBSOLETE: Susceptibility to adverse reaction due to isoniazide treatment + 'OBSOLETE: Susceptibility to adverse reaction due to isoniazide treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of isoniazid toxicity' Class: http://www.orpha.net/ORDO/Orphanet_251359 Label(s): Sickle cell-beta-thalassemia disease syndrome + 'Sickle cell-beta-thalassemia disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sickle cell disease associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_352328 Label(s): MEGDEL syndrome + 'MEGDEL syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '3-methylglutaconic aciduria' + 'MEGDEL syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'MEGDEL syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'MEGDEL syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'MEGDEL syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' Class: http://www.orpha.net/ORDO/Orphanet_3362 Label(s): OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome + 'OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated trichomegaly' Class: http://www.orpha.net/ORDO/Orphanet_443319 Label(s): OBSOLETE: HIV-related vulvovaginal cancer + 'OBSOLETE: HIV-related vulvovaginal cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_443316 Label(s): OBSOLETE: HIV-related Hodgkin lymphoma + 'OBSOLETE: HIV-related Hodgkin lymphoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_1155 Label(s): OBSOLETE: Arthrogryposis due to muscular dystrophy + 'OBSOLETE: Arthrogryposis due to muscular dystrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_443313 Label(s): OBSOLETE: HIV-related penile cancer + 'OBSOLETE: HIV-related penile cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_85414 Label(s): Systemic-onset juvenile idiopathic arthritis + 'Systemic-onset juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_213837 Label(s): Malignant germ cell tumor of the cervix uteri + 'Malignant germ cell tumor of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_85410 Label(s): Oligoarticular juvenile idiopathic arthritis + 'Oligoarticular juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with anterior uveitis' + 'Oligoarticular juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_213833 Label(s): Glassy cell carcinoma of the cervix uteri + 'Glassy cell carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_521123 Label(s): Radiation-induced plexopathy + 'Radiation-induced plexopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Radiation-induced disorder' + 'Radiation-induced plexopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2086 Label(s): Optic pathway glioma + 'Optic pathway glioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of cranial and spinal nerves' + 'Optic pathway glioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency of tumoral origin' Class: http://www.orpha.net/ORDO/Orphanet_251347 Label(s): Ataxia-telangiectasia-like disorder + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_3353 Label(s): Trichodermodysplasia-dental alterations syndrome + 'Trichodermodysplasia-dental alterations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Trichodermodysplasia-dental alterations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Trichodermodysplasia-dental alterations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_3352 Label(s): Tricho-dento-osseous syndrome + 'Tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hair shaft abnormality' + 'Tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' + 'Tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3350 Label(s): Tremor-nystagmus-duodenal ulcer syndrome + 'Tremor-nystagmus-duodenal ulcer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tremor disorder' Class: http://www.orpha.net/ORDO/Orphanet_97599 Label(s): OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis + 'OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cause of hypertension' Class: http://www.orpha.net/ORDO/Orphanet_97598 Label(s): Congenital renal artery stenosis + 'Congenital renal artery stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Congenital renal artery stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cause of hypertension' Class: http://www.orpha.net/ORDO/Orphanet_1149 Label(s): Kuskokwim syndrome + 'Kuskokwim syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_443307 Label(s): OBSOLETE: HIV-related anal cancer + 'OBSOLETE: HIV-related anal cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_1147 Label(s): Sheldon-Hall syndrome + 'Sheldon-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic sodium channel defect' + 'Sheldon-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_1146 Label(s): Distal arthrogryposis type 1 + 'Distal arthrogryposis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Distal arthrogryposis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' + 'Distal arthrogryposis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Distal arthrogryposis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic sodium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_85408 Label(s): Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis + 'Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polyarticular juvenile idiopathic arthritis' + 'Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with anterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_171430 Label(s): Severe congenital nemaline myopathy + 'Severe congenital nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nemaline myopathy' + 'Severe congenital nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital nemaline myopathy' + 'Severe congenital nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of nebulin' + 'Severe congenital nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of alpha-actin' Class: http://www.orpha.net/ORDO/Orphanet_443301 Label(s): OBSOLETE: HIV-related lung cancer + 'OBSOLETE: HIV-related lung cancer' SubClassOf http://www.orpha.net/ORDO/referred_to some 'HIV-associated cancer' Class: http://www.orpha.net/ORDO/Orphanet_171433 Label(s): Intermediate nemaline myopathy + 'Intermediate nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of tropomyosin' + 'Intermediate nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of nebulin' + 'Intermediate nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of alpha-actin' + 'Intermediate nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nemaline myopathy' + 'Intermediate nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital nemaline myopathy' Class: http://www.orpha.net/ORDO/Orphanet_213828 Label(s): Adenoid basal carcinoma of the cervix uteri + 'Adenoid basal carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_3454 Label(s): Intellectual disability-developmental delay-contractures syndrome + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skeletal muscle disease' + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_171436 Label(s): Typical nemaline myopathy + 'Typical nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nemaline myopathy' + 'Typical nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of tropomyosin' + 'Typical nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of nebulin' + 'Typical nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of alpha-actin' + 'Typical nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital nemaline myopathy' Class: http://www.orpha.net/ORDO/Orphanet_99797 Label(s): Anodontia + 'Anodontia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontal or periodontal disorder' + 'Anodontia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_99796 Label(s): Subcortical band heterotopia + 'Subcortical band heterotopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' Class: http://www.orpha.net/ORDO/Orphanet_3349 Label(s): Treft-Sanborn-Carey syndrome + 'Treft-Sanborn-Carey syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant optic atrophy plus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3348 Label(s): Tracheobronchopathia osteochondroplastica + 'Tracheobronchopathia osteochondroplastica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_3347 Label(s): Mounier-Kühn syndrome + 'Mounier-Kühn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_99792 Label(s): Dentin dysplasia-sclerotic bones syndrome + 'Dentin dysplasia-sclerotic bones syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontologic disease' + 'Dentin dysplasia-sclerotic bones syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_99791 Label(s): Dentin dysplasia type II + 'Dentin dysplasia type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dentin dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_3344 Label(s): Weismann-Netter syndrome + 'Weismann-Netter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Campomelic dysplasia and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_371064 Label(s): OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature + 'OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_369902 Label(s): OBSOLETE: DDX59-related orofaciodigital syndrome + 'OBSOLETE: DDX59-related orofaciodigital syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Orofaciodigital syndrome type 5' Class: http://www.orpha.net/ORDO/Orphanet_93178 Label(s): OBSOLETE: Partial prune belly syndrome + 'OBSOLETE: Partial prune belly syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prune belly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251332 Label(s): Unexplained long-lasting fever/inflammatory syndrome + 'Unexplained long-lasting fever/inflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'Unexplained long-lasting fever/inflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_93176 Label(s): Unilateral congenital megacalycosis + 'Unilateral congenital megacalycosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital megacalycosis' Class: http://www.orpha.net/ORDO/Orphanet_329284 Label(s): Beta-propeller protein-associated neurodegeneration + 'Beta-propeller protein-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegeneration with brain iron accumulation' + 'Beta-propeller protein-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93172 Label(s): Renal dysplasia, unilateral + 'Renal dysplasia, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_478029 Label(s): Combined oxidative phosphorylation defect type 29 + 'Combined oxidative phosphorylation defect type 29' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 29' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Combined oxidative phosphorylation defect type 29' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_98312 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility due to testicular endocrine disorder' Class: http://www.orpha.net/ORDO/Orphanet_1135 Label(s): Arrhinia-choanal atresia-microphthalmia syndrome + 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' + 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1134 Label(s): Isolated arrhinia + 'Isolated arrhinia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_171442 Label(s): Adult-onset nemaline myopathy + 'Adult-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of nebulin' + 'Adult-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of alpha-actin' + 'Adult-onset nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nemaline myopathy' Class: http://www.orpha.net/ORDO/Orphanet_1131 Label(s): X-linked mandibulofacial dysostosis + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_213817 Label(s): Papillary carcinoma of the cervix uteri + 'Papillary carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_2112 Label(s): OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome + 'OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_99789 Label(s): Dentin dysplasia type I + 'Dentin dysplasia type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dentin dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_213812 Label(s): Primitive neuroectodermal tumor of the cervix uteri + 'Primitive neuroectodermal tumor of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sarcoma of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_3339 Label(s): Toriello-Lacassie-Droste syndrome + 'Toriello-Lacassie-Droste syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_55654 Label(s): Hypotrichosis simplex + 'Hypotrichosis simplex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Hypotrichosis simplex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_3337 Label(s): Primary Fanconi renotubular syndrome + 'Primary Fanconi renotubular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Primary Fanconi renotubular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Primary Fanconi renotubular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_99782 Label(s): OBSOLETE: Familial articular chondrocalcinosis type 2 + 'OBSOLETE: Familial articular chondrocalcinosis type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial calcium pyrophosphate deposition' Class: http://www.orpha.net/ORDO/Orphanet_3332 Label(s): Hypoplastic tibiae-postaxial polydactyly syndrome + 'Hypoplastic tibiae-postaxial polydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3331 Label(s): OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome + 'OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_225147 Label(s): Sporadic infantile bilateral striatal necrosis + 'Sporadic infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile bilateral striatal necrosis' Class: http://www.orpha.net/ORDO/Orphanet_93164 Label(s): Transient pseudohypoaldosteronism + 'Transient pseudohypoaldosteronism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_364043 Label(s): ALK-positive large B-cell lymphoma + 'ALK-positive large B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_93160 Label(s): Hypocalcemic vitamin D-resistant rickets + 'Hypocalcemic vitamin D-resistant rickets' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypocalcemic rickets' Class: http://www.orpha.net/ORDO/Orphanet_1126 Label(s): Aprosencephaly cerebellar dysgenesis + 'Aprosencephaly cerebellar dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Midline cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_1125 Label(s): Ocular motor apraxia, Cogan type + 'Ocular motor apraxia, Cogan type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculomotor apraxia' Class: http://www.orpha.net/ORDO/Orphanet_177929 Label(s): Bleeding disorder in hemophilia B carriers + 'Bleeding disorder in hemophilia B carriers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemophilia B' Class: http://www.orpha.net/ORDO/Orphanet_1121 Label(s): Radial deficiency-tibial hypoplasia syndrome + 'Radial deficiency-tibial hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with combined reduction defects of upper and lower limbs' Class: http://www.orpha.net/ORDO/Orphanet_177926 Label(s): Bleeding disorder in hemophilia A carriers + 'Bleeding disorder in hemophilia A carriers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemophilia A' Class: http://www.orpha.net/ORDO/Orphanet_213807 Label(s): Leiomyosarcoma of the cervix uteri + 'Leiomyosarcoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sarcoma of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_213802 Label(s): Rhabdomyosarcoma of the cervix uteri + 'Rhabdomyosarcoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sarcoma of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_99776 Label(s): Mosaic trisomy 9 + 'Mosaic trisomy 9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_3329 Label(s): Tibial aplasia-ectrodactyly syndrome + 'Tibial aplasia-ectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' + 'Tibial aplasia-ectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Tibial aplasia-ectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Tibial aplasia-ectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Tibial aplasia-ectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_251316 Label(s): OBSOLETE: Unclassified overlapping connective tissue disease + 'OBSOLETE: Unclassified overlapping connective tissue disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Undifferentiated connective tissue syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3323 Label(s): Braddock-Carey syndrome + 'Braddock-Carey syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '21q22.11q22.12 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97567 Label(s): Immunotactoid glomerulopathy + 'Immunotactoid glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunotactoid or fibrillary glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_261295 Label(s): 20p12.3 microdeletion syndrome + '20p12.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_537891 Label(s): OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh + 'OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary angioedema with normal C1Inh not related to F12 or PLG variant' Class: http://www.orpha.net/ORDO/Orphanet_97563 Label(s): Pauci-immune glomerulonephritis with ANCA + 'Pauci-immune glomerulonephritis with ANCA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pauci-immune glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_261290 Label(s): Trisomy 17p + 'Trisomy 17p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_99429 Label(s): Complete androgen insensitivity syndrome + 'Complete androgen insensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Androgen insensitivity syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1113 Label(s): Aphalangy-syndactyly-microcephaly syndrome + 'Aphalangy-syndactyly-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Aphalangy-syndactyly-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Aphalangy-syndactyly-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_1110 Label(s): Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome + 'Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_699 Label(s): Pearson syndrome + 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' + 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with hypoparathyroidism' + 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional sideroblastic anemia' + 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' + 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with intestinal involvement' Class: http://www.orpha.net/ORDO/Orphanet_263494 Label(s): DPM3-CDG + 'DPM3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'DPM3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'DPM3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'DPM3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'DPM3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_99763 Label(s): OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 + 'OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial hypoaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_251307 Label(s): Idiopathic recurrent pericarditis + 'Idiopathic recurrent pericarditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome of childhood' + 'Idiopathic recurrent pericarditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3314 Label(s): Thiemann disease, familial form + 'Thiemann disease, familial form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteochondrosis' + 'Thiemann disease, familial form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteochondrosis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_251304 Label(s): Infantile onset panniculitis with uveitis and systemic granulomatosis + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Granulomatous autoinflammatory syndrome' + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Granulomatous autoinflammatory syndrome of childhood' Class: http://www.orpha.net/ORDO/Orphanet_3311 Label(s): OBSOLETE: Infantile symmetrical thalamic degeneration + 'OBSOLETE: Infantile symmetrical thalamic degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Symmetrical thalamic calcifications' Class: http://www.orpha.net/ORDO/Orphanet_3310 Label(s): Tetrasomy 9p + 'Tetrasomy 9p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy/tetrasomy of the short arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_320401 Label(s): Autosomal recessive spastic paraplegia type 44 + 'Autosomal recessive spastic paraplegia type 44' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_97555 Label(s): OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy + 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_320406 Label(s): Spastic paraplegia-optic atrophy-neuropathy syndrome + 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' Class: http://www.orpha.net/ORDO/Orphanet_1106 Label(s): Microphthalmia with limb anomalies + 'Microphthalmia with limb anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Microphthalmia with limb anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia with limb anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1104 Label(s): Anophthalmia plus syndrome + 'Anophthalmia plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anophthalmia plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_404499 Label(s): Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1102 Label(s): Anophthalmia-hypothalamo-pituitary insufficiency syndrome + 'Anophthalmia-hypothalamo-pituitary insufficiency syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_177907 Label(s): Prader-Willi syndrome due to translocation + 'Prader-Willi syndrome due to translocation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Prader-Willi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_613267 Label(s): Pontocerebellar hypoplasia type 13 + 'Pontocerebellar hypoplasia type 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pontocerebellar hypoplasia type 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pontocerebellar hypoplasia type 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_99324 Label(s): Paternal uniparental disomy of chromosome 13 + 'Paternal uniparental disomy of chromosome 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_684 Label(s): Paramyotonia congenita of Von Eulenburg + 'Paramyotonia congenita of Von Eulenburg' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic sodium channel defect' + 'Paramyotonia congenita of Von Eulenburg' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myotonic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99756 Label(s): Alveolar rhabdomyosarcoma + 'Alveolar rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rhabdomyosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_3309 Label(s): Tetrasomy 5p + 'Tetrasomy 5p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Tetrasomy 5p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy/tetrasomy of the short arm of chromosome 5' Class: http://www.orpha.net/ORDO/Orphanet_681 Label(s): Hypokalemic periodic paralysis + 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic calcium channel defect' + 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Periodic paralysis' + 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic potassium channel defect' + 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic periodic paralysis' + 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' + 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic sodium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_680 Label(s): Normokalemic periodic paralysis + 'Normokalemic periodic paralysis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hyperkalemic periodic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_3306 Label(s): Inverted duplicated chromosome 15 syndrome + 'Inverted duplicated chromosome 15 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + 'Inverted duplicated chromosome 15 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex chromosomal rearrangement' + 'Inverted duplicated chromosome 15 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_3305 Label(s): Tetraploidy + 'Tetraploidy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polyploidy' Class: http://www.orpha.net/ORDO/Orphanet_3304 Label(s): Fallot complex-intellectual disability-growth delay syndrome + 'Fallot complex-intellectual disability-growth delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fallot complex-intellectual disability-growth delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3303 Label(s): Tetralogy of Fallot + 'Tetralogy of Fallot' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Conotruncal heart malformations' Class: http://www.orpha.net/ORDO/Orphanet_457375 Label(s): ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement + 'ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' + 'ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with epilepsy' + 'ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_261279 Label(s): 17q23.1q23.2 microdeletion syndrome + '17q23.1q23.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_529977 Label(s): Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune dysregulation with inflammatory bowel disease' + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_535453 Label(s): Familial lipase maturation factor 1 deficiency + 'Familial lipase maturation factor 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial chylomicronemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99330 Label(s): 49,XYYYY syndrome + '49,XYYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '49,XYYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Y chromosome number anomaly' + '49,XYYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_51208 Label(s): Formiminoglutamic aciduria + 'Formiminoglutamic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional megaloblastic anemia due to folate metabolism disorder' + 'Formiminoglutamic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of folate metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_263479 Label(s): Fuchs heterochromic iridocyclitis + 'Fuchs heterochromic iridocyclitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-infectious anterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_542306 Label(s): GNB5-related intellectual disability-cardiac arrhythmia syndrome + 'GNB5-related intellectual disability-cardiac arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' + 'GNB5-related intellectual disability-cardiac arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99748 Label(s): Pontiac fever + 'Pontiac fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Legionellosis' Class: http://www.orpha.net/ORDO/Orphanet_672 Label(s): Pallister-Hall syndrome + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' Class: http://www.orpha.net/ORDO/Orphanet_99742 Label(s): Amish lethal microcephaly + 'Amish lethal microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of thiamine metabolism and transport' + 'Amish lethal microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_99741 Label(s): King-Denborough syndrome + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with malignant hyperthermia' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic ryanodine receptor defect' + 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_513456 Label(s): Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome + 'Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3467 Label(s): Hereditary xanthinuria + 'Hereditary xanthinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Hereditary xanthinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_96136 Label(s): OBSOLETE: Non-distal monosomy 7p + 'OBSOLETE: Non-distal monosomy 7p' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Partial deletion of the short arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_93126 Label(s): Pauci-immune glomerulonephritis + 'Pauci-immune glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_1727 Label(s): 22q11.2 duplication syndrome + '22q11.2 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 22' Class: http://www.orpha.net/ORDO/Orphanet_261265 Label(s): 17q12 microdeletion syndrome + '17q12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_293208 Label(s): Celiac artery compression syndrome + 'Celiac artery compression syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_669 Label(s): OBSOLETE: Otopalatodigital syndrome + 'OBSOLETE: Otopalatodigital syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Otopalatodigital syndrome spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_668 Label(s): Osteosarcoma + 'Osteosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Osteosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bone sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_667 Label(s): Autosomal recessive malignant osteopetrosis + 'Autosomal recessive malignant osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' + 'Autosomal recessive malignant osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with optic nerve compression' Class: http://www.orpha.net/ORDO/Orphanet_665 Label(s): Albright hereditary osteodystrophy + 'Albright hereditary osteodystrophy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_663 Label(s): Mitochondrial DNA-related progressive external ophthalmoplegia + 'Mitochondrial DNA-related progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Mitochondrial DNA-related progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Mitochondrial DNA-related progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' + 'Mitochondrial DNA-related progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive external ophthalmoplegia' + 'Mitochondrial DNA-related progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_99735 Label(s): Myotonia permanens + 'Myotonia permanens' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Potassium-aggravated myotonia' Class: http://www.orpha.net/ORDO/Orphanet_660 Label(s): Omphalocele + 'Omphalocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_371007 Label(s): Congenital muscular dystrophy with hyperlaxity + 'Congenital muscular dystrophy with hyperlaxity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_99731 Label(s): Isolated sulfite oxidase deficiency + 'Isolated sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Encephalopathy due to sulfite oxidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_261257 Label(s): Distal 17p13.3 microdeletion syndrome + 'Distal 17p13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_93114 Label(s): Autosomal dominant intermediate Charcot-Marie-Tooth disease type E + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_314911 Label(s): Severe Canavan disease + 'Severe Canavan disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Canavan disease' Class: http://www.orpha.net/ORDO/Orphanet_93111 Label(s): HNF1B-related autosomal dominant tubulointerstitial kidney disease + 'HNF1B-related autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare diabetes mellitus type 2' + 'HNF1B-related autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'HNF1B-related autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'HNF1B-related autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant tubulointerstitial kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_93110 Label(s): Posterior urethral valve + 'Posterior urethral valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fetal lower urinary tract obstruction' Class: http://www.orpha.net/ORDO/Orphanet_261250 Label(s): 16q24.3 microdeletion syndrome + '16q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_79501 Label(s): Punctate palmoplantar keratoderma type 1 + 'Punctate palmoplantar keratoderma type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated punctate palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_79502 Label(s): Punctate palmoplantar keratoderma type 2 + 'Punctate palmoplantar keratoderma type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated punctate palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_79504 Label(s): Ichthyosis hystrix gravior + 'Ichthyosis hystrix gravior' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Ichthyosis hystrix of Curth-Macklin' Class: http://www.orpha.net/ORDO/Orphanet_77301 Label(s): Monosomy 9q22.3 + 'Monosomy 9q22.3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Monosomy 9q22.3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Monosomy 9q22.3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the long arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_77302 Label(s): Oculo-oto-facial dysplasia + 'Oculo-oto-facial dysplasia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Burn-McKeown syndrome' Class: http://www.orpha.net/ORDO/Orphanet_656 Label(s): Genetic steroid-resistant nephrotic syndrome + 'Genetic steroid-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_655 Label(s): Nephronophthisis + 'Nephronophthisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Nephronophthisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in nephronophthisis gene' + 'Nephronophthisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Nephronophthisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' Class: http://www.orpha.net/ORDO/Orphanet_423479 Label(s): X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome + 'X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' + 'X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_652 Label(s): Multiple endocrine neoplasia type 1 + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal/paraganglial tumor' + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited digestive cancer-predisposing syndrome' + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with Cushing syndrome as a major feature' + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial primary hyperparathyroidism' + 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple endocrine neoplasia' Class: http://www.orpha.net/ORDO/Orphanet_99722 Label(s): OBSOLETE: Sporadic achalasia + 'OBSOLETE: Sporadic achalasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic achalasia' Class: http://www.orpha.net/ORDO/Orphanet_93109 Label(s): Congenital megacalycosis + 'Congenital megacalycosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_423470 Label(s): Mucolipidosis type III gamma + 'Mucolipidosis type III gamma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucolipidosis type III' Class: http://www.orpha.net/ORDO/Orphanet_261243 Label(s): 16p13.11 microduplication syndrome + '16p13.11 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_93100 Label(s): Renal agenesis, unilateral + 'Renal agenesis, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal agenesis' Class: http://www.orpha.net/ORDO/Orphanet_79106 Label(s): Eiken syndrome + 'Eiken syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' + 'Eiken syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with defective bone mineralization' Class: http://www.orpha.net/ORDO/Orphanet_649 Label(s): Norrie disease + 'Norrie disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic vitreoretinopathy' + 'Norrie disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Norrie disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Norrie disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Norrie disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_648 Label(s): Noonan syndrome + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Noonan syndrome and Noonan-related syndrome' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic outer canthal malposition' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited hematologic cancer-predisposing syndrome' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' + 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_647 Label(s): Nijmegen breakage syndrome + 'Nijmegen breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Nijmegen breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nijmegen breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Nijmegen breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' + 'Nijmegen breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nijmegen breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_646 Label(s): Niemann-Pick disease type C + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral lipidosis with dementia' + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis with epilepsy' + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lipid storage disease' + 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Supranuclear eye movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_644 Label(s): NARP syndrome + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with peripheral neuropathy' + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_643 Label(s): Giant axonal neuropathy + 'Giant axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Giant axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_641 Label(s): Multifocal motor neuropathy + 'Multifocal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic acquired demyelinating polyneuropathy' Class: http://www.orpha.net/ORDO/Orphanet_640 Label(s): Hereditary neuropathy with liability to pressure palsies + 'Hereditary neuropathy with liability to pressure palsies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome 17' + 'Hereditary neuropathy with liability to pressure palsies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_555874 Label(s): Congenital tricuspid valve dysplasia + 'Congenital tricuspid valve dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_1519 Label(s): SPECC1L-related hypertelorism syndrome + 'SPECC1L-related hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'SPECC1L-related hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'SPECC1L-related hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_423461 Label(s): Mucolipidosis type III alpha/beta + 'Mucolipidosis type III alpha/beta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucolipidosis type III' Class: http://www.orpha.net/ORDO/Orphanet_158000 Label(s): Juvenile xanthogranuloma + 'Juvenile xanthogranuloma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_558411 Label(s): Idiopathic gastroparesis + 'Idiopathic gastroparesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_261236 Label(s): 16p13.11 microdeletion syndrome + '16p13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_639 Label(s): Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG + 'Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic acquired demyelinating polyneuropathy' + 'Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuroinflammatory or neuroimmunological disease' Class: http://www.orpha.net/ORDO/Orphanet_638 Label(s): Neurofibromatosis-Noonan syndrome + 'Neurofibromatosis-Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Neurofibromatosis-Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' + 'Neurofibromatosis-Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Noonan syndrome and Noonan-related syndrome' + 'Neurofibromatosis-Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Neurofibromatosis-Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Neurofibromatosis-Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_637 Label(s): Neurofibromatosis type 2 + 'Neurofibromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Neurofibromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Neurofibromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some http://www.orpha.net/ORDO/Orphanet_634518 + 'Neurofibromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Neurofibromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_635 Label(s): Neuroblastoma + 'Neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central nervous system embryonal tumor' Class: http://www.orpha.net/ORDO/Orphanet_634 Label(s): Netherton syndrome + 'Netherton syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' + 'Netherton syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_633 Label(s): Laron syndrome + 'Laron syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Growth hormone insensitivity syndrome' Class: http://www.orpha.net/ORDO/Orphanet_631 Label(s): Non-acquired isolated growth hormone deficiency + 'Non-acquired isolated growth hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_263432 Label(s): Nevus of Ito + 'Nevus of Ito' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_423454 Label(s): Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome + 'Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_261229 Label(s): 14q11.2 microduplication syndrome + '14q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_2347 Label(s): Lethal Kniest-like dysplasia + 'Lethal Kniest-like dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_206619 Label(s): OBSOLETE: Toxic or/and iatrogenic neuropathy + 'OBSOLETE: Toxic or/and iatrogenic neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_261222 Label(s): Distal 16p11.2 microdeletion syndrome + 'Distal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Distal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_32960 Label(s): Tumor necrosis factor receptor 1 associated periodic syndrome + 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary periodic fever syndrome' Class: http://www.orpha.net/ORDO/Orphanet_155889 Label(s): Coloboma of inferior eyelid + 'Coloboma of inferior eyelid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oblique facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_2201 Label(s): Palmoplantar keratoderma-spastic paralysis syndrome + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_629 Label(s): Short stature due to growth hormone qualitative anomaly + 'Short stature due to growth hormone qualitative anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired isolated growth hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_628 Label(s): Diastrophic dysplasia + 'Diastrophic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sulfation-related bone disorder' + 'Diastrophic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with micromelia' Class: http://www.orpha.net/ORDO/Orphanet_627 Label(s): Nance-Horan syndrome + 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dentocutaneous disease with cataract' + 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_626 Label(s): Large congenital melanocytic nevus + 'Large congenital melanocytic nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'Large congenital melanocytic nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_624 Label(s): Familial multiple nevi flammei + 'Familial multiple nevi flammei' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare capillary malformation' + 'Familial multiple nevi flammei' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Familial multiple nevi flammei' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Familial multiple nevi flammei' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic capillary malformation' Class: http://www.orpha.net/ORDO/Orphanet_623 Label(s): NAME syndrome + 'NAME syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Carney complex' Class: http://www.orpha.net/ORDO/Orphanet_622 Label(s): Homocystinuria without methylmalonic aciduria + 'Homocystinuria without methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Homocystinuria without methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of cobalamin metabolism and transport' + 'Homocystinuria without methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Homocystinuria without methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of methionine cycle and sulfur amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_621 Label(s): Hereditary methemoglobinemia + 'Hereditary methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemoglobinopathy' + 'Hereditary methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hemoglobinopathy' + 'Hereditary methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_529965 Label(s): Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome + 'Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_140905 Label(s): Hyperlipidemia due to hepatic triacylglycerol lipase deficiency + 'Hyperlipidemia due to hepatic triacylglycerol lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperalphalipoproteinemia' Class: http://www.orpha.net/ORDO/Orphanet_261211 Label(s): 16p11.2p12.2 microdeletion syndrome + '16p11.2p12.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_104076 Label(s): Leiomyosarcoma of small intestine + 'Leiomyosarcoma of small intestine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesenchymal tumor of small intestine' Class: http://www.orpha.net/ORDO/Orphanet_2131 Label(s): Alternating hemiplegia of childhood + 'Alternating hemiplegia of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alternating hemiplegia' Class: http://www.orpha.net/ORDO/Orphanet_562538 Label(s): Autosomal recessive extra-oral halitosis + 'Autosomal recessive extra-oral halitosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of methionine cycle and sulfur amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_563676 Label(s): Seromucinous cystadenoma of childhood + 'Seromucinous cystadenoma of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cystadenoma of childhood' Class: http://www.orpha.net/ORDO/Orphanet_617 Label(s): Congenital primary megaureter + 'Congenital primary megaureter' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' + 'Congenital primary megaureter' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of male and female' + 'Congenital primary megaureter' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_616 Label(s): Medulloblastoma + 'Medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Embryonal tumor of neuroepithelial tissue' Class: http://www.orpha.net/ORDO/Orphanet_615 Label(s): Familial atrial myxoma + 'Familial atrial myxoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cardiac tumor' + 'Familial atrial myxoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_614 Label(s): Thomsen and Becker disease + 'Thomsen and Becker disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myotonia' + 'Thomsen and Becker disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic chloride channel defect' Class: http://www.orpha.net/ORDO/Orphanet_90649 Label(s): Orofaciodigital syndrome type 7 + 'Orofaciodigital syndrome type 7' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Orofaciodigital syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_611 Label(s): Inclusion body myositis + 'Inclusion body myositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_566049 Label(s): solute carrier family 12 member 2 - 'solute carrier family 12 member 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' - 'solute carrier family 12 member 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'solute carrier family 12 member 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_633024 + 'solute carrier family 12 member 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_633021 Class: http://www.orpha.net/ORDO/Orphanet_263410 Label(s): Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome + 'Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of thiamine metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_96164 Label(s): OBSOLETE: Non-distal monosomy 20q + 'OBSOLETE: Non-distal monosomy 20q' SubClassOf http://www.orpha.net/ORDO/referred_to some '20q11.2 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_567983 Label(s): Parenteral nutrition-associated cholestasis + 'Parenteral nutrition-associated cholestasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_568065 Label(s): EPHB4-related lymphatic-related hydrops fetalis + 'EPHB4-related lymphatic-related hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare atrial defect and interatrial communication' + 'EPHB4-related lymphatic-related hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary lymphedema with systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_261204 Label(s): 16p11.2p12.2 microduplication syndrome + '16p11.2p12.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_314962 Label(s): Secondary hypereosinophilic syndrome + 'Secondary hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypereosinophilic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1249 Label(s): OBSOLETE: Binswanger disease + 'OBSOLETE: Binswanger disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cerebrovascular dementia' Class: http://www.orpha.net/ORDO/Orphanet_420611 Label(s): Transient myeloproliferative syndrome + 'Transient myeloproliferative syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloproliferative neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_241005 Label(s): OBSOLETE: Susceptibility to hypersensitivity syndrome due to abacavir treatment + 'OBSOLETE: Susceptibility to hypersensitivity syndrome due to abacavir treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of abacavir toxicity' Class: http://www.orpha.net/ORDO/Orphanet_294929 Label(s): OBSOLETE: Terminal limb defects + 'OBSOLETE: Terminal limb defects' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic limb reduction defect' Class: http://www.orpha.net/ORDO/Orphanet_609 Label(s): Tibial muscular dystrophy + 'Tibial muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' + 'Tibial muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of titin' Class: http://www.orpha.net/ORDO/Orphanet_331190 Label(s): Immunodeficiency due to ficolin3 deficiency + 'Immunodeficiency due to ficolin3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to a complement cascade component deficiency' Class: http://www.orpha.net/ORDO/Orphanet_606 Label(s): Proximal myotonic myopathy + 'Proximal myotonic myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' + 'Proximal myotonic myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Proximal myotonic myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myotonic dystrophy' + 'Proximal myotonic myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Proximal myotonic myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_603 Label(s): Distal myopathy, Welander type + 'Distal myopathy, Welander type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_602 Label(s): GNE myopathy + 'GNE myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inclusion myopathy' + 'GNE myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' + 'GNE myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal myopathy' + 'GNE myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'GNE myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'GNE myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_600 Label(s): Vocal cord and pharyngeal distal myopathy + 'Vocal cord and pharyngeal distal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_436242 Label(s): Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease + 'Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_315311 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_3219 Label(s): Fountain syndrome + 'Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_409948 Label(s): adult - 'adult' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409949 Label(s): elderly - 'elderly' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_314970 Label(s): Lymphocytic hypereosinophilic syndrome + 'Lymphocytic hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary hypereosinophilic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_294931 Label(s): OBSOLETE: Adactyly of hand + 'OBSOLETE: Adactyly of hand' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic limb reduction defect' Class: http://www.orpha.net/ORDO/Orphanet_294935 Label(s): OBSOLETE: Split hand or/and split foot malformation + 'OBSOLETE: Split hand or/and split foot malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_228190 Label(s): Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome + 'Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heart-hand syndrome' Class: http://www.orpha.net/ORDO/Orphanet_33577 Label(s): Nodular non-suppurative panniculitis + 'Nodular non-suppurative panniculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_590539 Label(s): Isolated melanotic schwannoma + 'Isolated melanotic schwannoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign peripheral nerve sheath tumor' + 'Isolated melanotic schwannoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_33574 Label(s): Glutamate-cysteine ligase deficiency + 'Glutamate-cysteine ligase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of the gamma-glutamyl cycle' + 'Glutamate-cysteine ligase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' Class: http://www.orpha.net/ORDO/Orphanet_86788 Label(s): X-linked severe congenital neutropenia + 'X-linked severe congenital neutropenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_619363 Label(s): Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 + 'Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' + 'Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome' + 'Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary hemophagocytic lymphohistiocytosis' + 'Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_570371 Label(s): Bartter syndrome type 5 + 'Bartter syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bartter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75496 Label(s): B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome + 'B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosylglycan synthesis' + 'B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' + 'B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_529962 Label(s): 17q24.2 microdeletion syndrome + '17q24.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 17' + '17q24.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17q24.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_294942 Label(s): OBSOLETE: Postaxial polydactyly of fingers + 'OBSOLETE: Postaxial polydactyly of fingers' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic postaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_572798 Label(s): WARS2-related combined oxidative phosphorylation defect + 'WARS2-related combined oxidative phosphorylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'WARS2-related combined oxidative phosphorylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'WARS2-related combined oxidative phosphorylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231445 Label(s): Paraparetic variant of Guillain-Barré syndrome + 'Paraparetic variant of Guillain-Barré syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional variant of Guillain-Barré syndrome' Class: http://www.orpha.net/ORDO/Orphanet_576074 Label(s): Middle East respiratory syndrome + 'Middle East respiratory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' + 'Middle East respiratory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_231108 Label(s): Familial rhabdoid tumor + 'Familial rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic soft tissue tumor' + 'Familial rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rhabdoid tumor' Class: http://www.orpha.net/ORDO/Orphanet_280620 Label(s): Progressive myoclonic epilepsy type 6 + 'Progressive myoclonic epilepsy type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_2533 Label(s): Microcephaly-deafness-intellectual disability syndrome + 'Microcephaly-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_1757 Label(s): Fibular dimelia-diplopodia syndrome + 'Fibular dimelia-diplopodia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_480773 Label(s): OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome + 'OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'FATCO syndrome' Class: http://www.orpha.net/ORDO/Orphanet_409950 Label(s): all ages - 'all ages' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_241033 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to vecuronium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to vecuronium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241035 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to allopurinol treatment + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to allopurinol treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of allopurinol toxicity' Class: http://www.orpha.net/ORDO/Orphanet_228174 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2N + 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_73274 Label(s): OBSOLETE: Acquired hemophilia + 'OBSOLETE: Acquired hemophilia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_73272 Label(s): Growth delay due to insulin-like growth factor type 1 deficiency + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Growth hormone insensitivity syndrome' Class: http://www.orpha.net/ORDO/Orphanet_73271 Label(s): Bleeding diathesis due to a collagen receptor defect + 'Bleeding diathesis due to a collagen receptor defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a qualitative platelet defect' Class: http://www.orpha.net/ORDO/Orphanet_69663 Label(s): Low phospholipid-associated cholelithiasis + 'Low phospholipid-associated cholelithiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic biliary tract disease' + 'Low phospholipid-associated cholelithiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_97289 Label(s): Thymic neuroendocrine tumor + 'Thymic neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thymic tumor' + 'Thymic neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' Class: http://www.orpha.net/ORDO/Orphanet_436274 Label(s): Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa + 'Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dermis elastic tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_85146 Label(s): Neurogenic scapuloperoneal syndrome, Kaeser type + 'Neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic motor neuron disease' + 'Neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of desmin' Class: http://www.orpha.net/ORDO/Orphanet_280633 Label(s): Multiple congenital anomalies-hypotonia-seizures syndrome + 'Multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with developmental anomaly' + 'Multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_294961 Label(s): OBSOLETE: Syndromes with synostoses of limbs + 'OBSOLETE: Syndromes with synostoses of limbs' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_3000 Label(s): Familial male-limited precocious puberty + 'Familial male-limited precocious puberty' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare peripheral precocious puberty' Class: http://www.orpha.net/ORDO/Orphanet_294967 Label(s): Amelia of upper limb + 'Amelia of upper limb' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amelia' Class: http://www.orpha.net/ORDO/Orphanet_235838 Label(s): OBSOLETE: Congenital vascular bone syndrome with limb shortening + 'OBSOLETE: Congenital vascular bone syndrome with limb shortening' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital vascular bone syndrome' Class: http://www.orpha.net/ORDO/Orphanet_235835 Label(s): OBSOLETE: Congenital vascular bone syndrome with limb overgrowth + 'OBSOLETE: Congenital vascular bone syndrome with limb overgrowth' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital vascular bone syndrome' Class: http://www.orpha.net/ORDO/Orphanet_73263 Label(s): Zygomycosis + 'Zygomycosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_353356 Label(s): Vasoproliferative tumor of the retina + 'Vasoproliferative tumor of the retina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'Vasoproliferative tumor of the retina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_580572 Label(s): Intraductal tubulopapillary neoplasm of pancreas + 'Intraductal tubulopapillary neoplasm of pancreas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare epithelial tumor of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_3318 Label(s): Essential thrombocythemia + 'Essential thrombocythemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloproliferative neoplasm' + 'Essential thrombocythemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to an acquired platelet anomaly' Class: http://www.orpha.net/ORDO/Orphanet_353351 Label(s): Idiopathic macular telangiectasia type 3 + 'Idiopathic macular telangiectasia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare macular disorder' + 'Idiopathic macular telangiectasia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare idiopathic macular telangiectasia' Class: http://www.orpha.net/ORDO/Orphanet_163596 Label(s): Hb Bart's hydrops fetalis + 'Hb Bart's hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha-thalassemia' Class: http://www.orpha.net/ORDO/Orphanet_206448 Label(s): Adult Krabbe disease + 'Adult Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Krabbe disease' + 'Adult Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral lipidosis with dementia' Class: http://www.orpha.net/ORDO/Orphanet_583097 Label(s): Congenital infiltrating lipomatosis of the face + 'Congenital infiltrating lipomatosis of the face' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PIK3CA-related overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1764 Label(s): Familial dysautonomia + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic primary orthostatic hypotension' + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital alacrima' + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary orthostatic hypotension' + 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_589856 Label(s): Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nose and cavum anomaly' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with hypoparathyroidism' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_353344 Label(s): Idiopathic macular telangiectasia type 1 + 'Idiopathic macular telangiectasia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare idiopathic macular telangiectasia' + 'Idiopathic macular telangiectasia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_36355 Label(s): Bleeding disorder due to P2Y12 defect + 'Bleeding disorder due to P2Y12 defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a qualitative platelet defect' Class: http://www.orpha.net/ORDO/Orphanet_370997 Label(s): Muscle-eye-brain disease with bilateral multicystic leucodystrophy + 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary qualitative or quantitative defects of alpha-dystroglycan' + 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' Class: http://www.orpha.net/ORDO/Orphanet_589435 Label(s): Spondylometaphyseal dysplasia-corneal dystrophy syndrome + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_431149 Label(s): Combined immunodeficiency due to OX40 deficiency + 'Combined immunodeficiency due to OX40 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Combined immunodeficiency due to OX40 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_589442 Label(s): Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_275534 Label(s): Myostatin-related muscle hypertrophy - 'Myostatin-related muscle hypertrophy' SubClassOf 'disease' - 'Myostatin-related muscle hypertrophy' SubClassOf 'disorder' + 'Myostatin-related muscle hypertrophy' SubClassOf 'obsolete disorder' + 'Myostatin-related muscle hypertrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare genetic disease' Class: http://www.orpha.net/ORDO/Orphanet_289877 Label(s): Transient hyperammonemia of the newborn + 'Transient hyperammonemia of the newborn' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Transient hyperammonemia of the newborn' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_73246 Label(s): Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome + 'Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_431140 Label(s): X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome + 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_353334 Label(s): Congenital retinal arteriovenous communication + 'Congenital retinal arteriovenous communication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' + 'Congenital retinal arteriovenous communication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Congenital retinal arteriovenous communication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_294992 Label(s): OBSOLETE: Split hand + 'OBSOLETE: Split hand' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_294996 Label(s): OBSOLETE: Brachydactyly of fingers + 'OBSOLETE: Brachydactyly of fingers' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_213504 Label(s): Adenocarcinoma of ovary + 'Adenocarcinoma of ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_370980 Label(s): Congenital muscular dystrophy without intellectual disability + 'Congenital muscular dystrophy without intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'Congenital muscular dystrophy without intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'Congenital muscular dystrophy without intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_494418 Label(s): Vulvar carcinoma + 'Vulvar carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vulvovaginal tumor' Class: http://www.orpha.net/ORDO/Orphanet_279934 Label(s): Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency + 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' + 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_281090 Label(s): Syndromic recessive X-linked ichthyosis + 'Syndromic recessive X-linked ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked ichthyosis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_73230 Label(s): Ossification anomalies-psychomotor developmental delay syndrome + 'Ossification anomalies-psychomotor developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ossification anomalies-psychomotor developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' + 'Ossification anomalies-psychomotor developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ossification anomalies-psychomotor developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with defective bone mineralization' Class: http://www.orpha.net/ORDO/Orphanet_353327 Label(s): Congenital myasthenic syndromes with glycosylation defect + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1444 Label(s): Ring chromosome 20 syndrome + 'Ring chromosome 20 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' + 'Ring chromosome 20 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_45453 Label(s): Incessant infant ventricular tachycardia + 'Incessant infant ventricular tachycardia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_592570 Label(s): TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb malformations as a major feature' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb malformations as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_353320 Label(s): Pyruvate carboxylase deficiency, benign type + 'Pyruvate carboxylase deficiency, benign type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate carboxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_592900 Label(s): Acute disseminated encephalomyelitis without anti-MOG antibodies + 'Acute disseminated encephalomyelitis without anti-MOG antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute disseminated encephalomyelitis' Class: http://www.orpha.net/ORDO/Orphanet_280679 Label(s): Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome + 'Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' + 'Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' Class: http://www.orpha.net/ORDO/Orphanet_275517 Label(s): Autoimmune lymphoproliferative syndrome with recurrent viral infections + 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' + 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' Class: http://www.orpha.net/ORDO/Orphanet_279928 Label(s): Paraneoplastic uveitis + 'Paraneoplastic uveitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-infectious posterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_530995 Label(s): Mixed phenotype acute leukemia + 'Mixed phenotype acute leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute leukemia of ambiguous lineage' Class: http://www.orpha.net/ORDO/Orphanet_279925 Label(s): Infectious panuveitis + 'Infectious panuveitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Panuveitis' Class: http://www.orpha.net/ORDO/Orphanet_597623 Label(s): IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome + 'IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with dystonia and other neurologic or systemic manifestation' Class: http://www.orpha.net/ORDO/Orphanet_73224 Label(s): Kidney tubulopathy-dilated cardiomyopathy syndrome + 'Kidney tubulopathy-dilated cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' + 'Kidney tubulopathy-dilated cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Kidney tubulopathy-dilated cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_1773 Label(s): Sacrococcygeal dysgenesis association + 'Sacrococcygeal dysgenesis association' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Caudal regression syndrome' Class: http://www.orpha.net/ORDO/Orphanet_73220 Label(s): X-linked intellectual disability-hypotonic face syndrome + 'X-linked intellectual disability-hypotonic face syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_599513 Label(s): Acquired factor XIII deficiency + 'Acquired factor XIII deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_231169 Label(s): Usher syndrome type 1 + 'Usher syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Usher syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171208 Label(s): OBSOLETE: Intermediate isolated anorectal malformation + 'OBSOLETE: Intermediate isolated anorectal malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_353314 Label(s): Pyruvate carboxylase deficiency, severe neonatal type + 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate carboxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_35708 Label(s): Aromatic L-amino acid decarboxylase deficiency + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of catecholamine synthesis' Class: http://www.orpha.net/ORDO/Orphanet_1778 Label(s): Facial dysmorphism-shawl scrotum-joint laxity syndrome + 'Facial dysmorphism-shawl scrotum-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Facial dysmorphism-shawl scrotum-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_35706 Label(s): Glutaric acidemia type 3 + 'Glutaric acidemia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Energy metabolism disorder with epilepsy' + 'Glutaric acidemia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' Class: http://www.orpha.net/ORDO/Orphanet_370968 Label(s): Congenital muscular dystrophy with intellectual disability + 'Congenital muscular dystrophy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'Congenital muscular dystrophy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'Congenital muscular dystrophy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Congenital muscular dystrophy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_35704 Label(s): L-Arginine:glycine amidinotransferase deficiency + 'L-Arginine:glycine amidinotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Creatine deficiency syndrome' + 'L-Arginine:glycine amidinotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_35701 Label(s): 3-hydroxy-3-methylglutaryl-CoA synthase deficiency + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of fatty acid oxidation and ketogenesis' Class: http://www.orpha.net/ORDO/Orphanet_279919 Label(s): Infectious posterior uveitis + 'Infectious posterior uveitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Posterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_228113 Label(s): Anal fistula + 'Anal fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' + 'Anal fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_530983 Label(s): Lamb-Shaffer syndrome + 'Lamb-Shaffer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lamb-Shaffer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_279914 Label(s): Intermediate uveitis + 'Intermediate uveitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Uveitis' Class: http://www.orpha.net/ORDO/Orphanet_251949 Label(s): Ganglioglioma + 'Ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed neuronal-glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_353308 Label(s): Pyruvate carboxylase deficiency, infantile type + 'Pyruvate carboxylase deficiency, infantile type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate carboxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_289891 Label(s): Hypermethioninemia due to glycine N-methyltransferase deficiency + 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of methionine cycle and sulfur amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_216694 Label(s): Congenitally corrected transposition of the great arteries + 'Congenitally corrected transposition of the great arteries' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Transposition of the great arteries' Class: http://www.orpha.net/ORDO/Orphanet_440392 Label(s): Interstitial lung disease due to SP-C deficiency + 'Interstitial lung disease due to SP-C deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder' + 'Interstitial lung disease due to SP-C deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic interstitial lung disease' Class: http://www.orpha.net/ORDO/Orphanet_409979 Label(s): <1 / 1 000 000 - '<1 / 1 000 000' SubClassOf 'annual incidence' - '<1 / 1 000 000' SubClassOf 'birth prevalence' - '<1 / 1 000 000' SubClassOf 'point prevalence' - '<1 / 1 000 000' SubClassOf 'lifetime prevalence' Class: http://www.orpha.net/ORDO/Orphanet_370959 Label(s): Congenital muscular dystrophy with cerebellar involvement + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_2157 Label(s): Histidinemia + 'Histidinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of histidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_599376 Label(s): Hypomyelination of early myelinating structures + 'Hypomyelination of early myelinating structures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hypomyelination of early myelinating structures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' + 'Hypomyelination of early myelinating structures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_599373 Label(s): STXBP1-related encephalopathy + 'STXBP1-related encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' + 'STXBP1-related encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2104 Label(s): Dysmorphism-pectus carinatum-joint laxity syndrome + 'Dysmorphism-pectus carinatum-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dysmorphism-pectus carinatum-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_482601 Label(s): Adenylosuccinate synthetase-like 1-related distal myopathy + 'Adenylosuccinate synthetase-like 1-related distal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_2109 Label(s): Hallermann-Streiff-like syndrome + 'Hallermann-Streiff-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Hallermann-Streiff-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Hallermann-Streiff-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniofacial anomaly with cataract' + 'Hallermann-Streiff-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Hallermann-Streiff-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hallermann-Streiff-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hallermann-Streiff-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + 'Hallermann-Streiff-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_369894 Label(s): OBSOLETE: Early infantile epileptic encephalopathy without suppression burst + 'OBSOLETE: Early infantile epileptic encephalopathy without suppression burst' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-specific early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_369891 Label(s): Developmental delay-facial dysmorphism syndrome due to MED13L deficiency + 'Developmental delay-facial dysmorphism syndrome due to MED13L deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-facial dysmorphism syndrome due to MED13L deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' + 'Developmental delay-facial dysmorphism syndrome due to MED13L deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Developmental delay-facial dysmorphism syndrome due to MED13L deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_370943 Label(s): Autism spectrum disorder-epilepsy-arthrogryposis syndrome + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with developmental anomaly' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86920 Label(s): Dermatopathia pigmentosa reticularis + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_2113 Label(s): Congenital hypothalamic hamartoma syndrome + 'Congenital hypothalamic hamartoma syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pallister-Hall syndrome' Class: http://www.orpha.net/ORDO/Orphanet_158061 Label(s): Macrophage activation syndrome + 'Macrophage activation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'Macrophage activation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary hemophagocytic lymphohistiocytosis' + 'Macrophage activation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_2115 Label(s): Harrod syndrome + 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_369881 Label(s): 2p21 microdeletion syndrome without cystinuria + '2p21 microdeletion syndrome without cystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Homozygous 2p21 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1123 Label(s): Caudal appendage-deafness syndrome + 'Caudal appendage-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Caudal appendage-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Caudal appendage-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85188 Label(s): Metaphyseal dysplasia, Braun-Tinschert type + 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_163528 Label(s): OBSOLETE: Acute cutaneous lupus erythematosus + 'OBSOLETE: Acute cutaneous lupus erythematosus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_86923 Label(s): Hereditary palmoplantar keratoderma, Gamborg-Nielsen type + 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_163525 Label(s): Subacute cutaneous lupus erythematosus + 'Subacute cutaneous lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_370019 Label(s): Spondylometaphyseal dysplasia, Czarny-Ratajczak type + 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_370938 Label(s): Salt-and-pepper syndrome + 'Salt-and-pepper syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'GM3 synthase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_370933 Label(s): GM3 synthase deficiency + 'GM3 synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' + 'GM3 synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'GM3 synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'GM3 synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'GM3 synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_370930 Label(s): XYLT1-CDG + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with developmental anomaly' + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosylglycan synthesis' + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_3255 Label(s): Filippi syndrome + 'Filippi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Filippi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Filippi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2122 Label(s): Kaposiform hemangioendothelioma + 'Kaposiform hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' + 'Kaposiform hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_213792 Label(s): Adenosarcoma of the cervix uteri + 'Adenosarcoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant mixed epithelial and mesenchymal tumor of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_2125 Label(s): Sacral hemangiomas-multiple congenital abnormalities syndrome + 'Sacral hemangiomas-multiple congenital abnormalities syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'LUMBAR syndrome' Class: http://www.orpha.net/ORDO/Orphanet_289863 Label(s): Atypical glycine encephalopathy + 'Atypical glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycine encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_369873 Label(s): Obesity due to SIM1 deficiency + 'Obesity due to SIM1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_289860 Label(s): Infantile glycine encephalopathy + 'Infantile glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycine encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_247378 Label(s): Autosomal recessive secondary polycythemia not associated with VHL gene + 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital secondary polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_370022 Label(s): Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculomotor apraxia' + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_610569 Label(s): KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome + 'KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_370026 Label(s): Acute myeloid leukemia with t(8;16)(p11;p13) translocation + 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_370927 Label(s): SSR4-CDG + 'SSR4-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SSR4-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'SSR4-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SSR4-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_370924 Label(s): STT3B-CDG + 'STT3B-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'STT3B-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'STT3B-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_158048 Label(s): Hemophagocytic syndrome associated with an infection + 'Hemophagocytic syndrome associated with an infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary hemophagocytic lymphohistiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_370921 Label(s): STT3A-CDG + 'STT3A-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'STT3A-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'STT3A-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_289857 Label(s): Neonatal glycine encephalopathy + 'Neonatal glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycine encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_369867 Label(s): Autosomal recessive intermediate Charcot-Marie-Tooth disease type C + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_2138 Label(s): 46,XX ovotesticular disorder of sex development + '46,XX ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gonadal dysgenesis of gynecological interest' + '46,XX ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XX disorder of gonadal development' + '46,XX ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to gonadal dysgenesis' + '46,XX ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_610573 Label(s): CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome + 'CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary neurologic disease with peripheral neuropathy' + 'CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_251295 Label(s): Pigmented paravenous retinochoroidal atrophy + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated chorioretinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_251290 Label(s): Parietal foramina with clavicular hypoplasia + 'Parietal foramina with clavicular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Parietal foramina with clavicular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_166068 Label(s): Pontocerebellar hypoplasia type 5 + 'Pontocerebellar hypoplasia type 5' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pontocerebellar hypoplasia type 4' Class: http://www.orpha.net/ORDO/Orphanet_1094 Label(s): Anonychia-microcephaly syndrome + 'Anonychia-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anonychia-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3020 Label(s): Ramsay Hunt syndrome + 'Ramsay Hunt syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' + 'Ramsay Hunt syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_1092 Label(s): Renal-genital-middle ear anomalies + 'Renal-genital-middle ear anomalies' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_213574 Label(s): Rare variants of adenocarcinoma of the corpus uteri + 'Rare variants of adenocarcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_213777 Label(s): High-grade neuroendocrine carcinoma of the cervix uteri + 'High-grade neuroendocrine carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' + 'High-grade neuroendocrine carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_2140 Label(s): Congenital diaphragmatic hernia + 'Congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic diaphragmatic or thoracic malformation' + 'Congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_2141 Label(s): Diaphragmatic defect-limb deficiency-skull defect syndrome + 'Diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_289849 Label(s): Glutathione synthetase deficiency without 5-oxoprolinuria + 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glutathione synthetase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_3299 Label(s): Tetanus + 'Tetanus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' + 'Tetanus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease of the nervous system' Class: http://www.orpha.net/ORDO/Orphanet_289846 Label(s): Glutathione synthetase deficiency with 5-oxoprolinuria + 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glutathione synthetase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_251287 Label(s): Benign concentric annular macular dystrophy + 'Benign concentric annular macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_3294 Label(s): Extensor tendons of finger anomalies + 'Extensor tendons of finger anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb malformations as a major feature' + 'Extensor tendons of finger anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb malformations as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98771 Label(s): Spinocerebellar ataxia type 18 + 'Spinocerebellar ataxia type 18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_3291 Label(s): Teebi-Shaltout syndrome + 'Teebi-Shaltout syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant craniofacial involvement' + 'Teebi-Shaltout syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251282 Label(s): Autosomal dominant spastic ataxia type 1 + 'Autosomal dominant spastic ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant spastic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_329332 Label(s): Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_167909 Label(s): mitochondrially encoded tRNA-Phe (UUU/C) + 'mitochondrially encoded tRNA-Phe (UUU/C)' SubClassOf 'disease-causing germline mutation(s) in' some 'Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation' Class: http://www.orpha.net/ORDO/Orphanet_1088 Label(s): OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome + 'OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_50943 Label(s): Keratolytic winter erythema + 'Keratolytic winter erythema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Keratolytic winter erythema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' Class: http://www.orpha.net/ORDO/Orphanet_1084 Label(s): Isolated lissencephaly type 1 without known genetic defects + 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic lissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_1083 Label(s): Microlissencephaly + 'Microlissencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Microlissencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Microlissencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_213767 Label(s): Squamous cell carcinoma of the cervix uteri + 'Squamous cell carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_158025 Label(s): Hereditary progressive mucinous histiocytosis + 'Hereditary progressive mucinous histiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_2152 Label(s): Mowat-Wilson syndrome + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with Hirschsprung disease as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_158022 Label(s): Progressive nodular histiocytosis + 'Progressive nodular histiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_251279 Label(s): Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome + 'Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_228254 Label(s): Elastoma + 'Elastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_3283 Label(s): His bundle tachycardia + 'His bundle tachycardia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_251274 Label(s): Familial hyperaldosteronism type III + 'Familial hyperaldosteronism type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial hyperaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_369840 Label(s): TRAPPC11-related limb-girdle muscular dystrophy R18 + 'TRAPPC11-related limb-girdle muscular dystrophy R18' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1078 Label(s): Thumb stiffness-brachydactyly-intellectual disability syndrome + 'Thumb stiffness-brachydactyly-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Thumb stiffness-brachydactyly-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Thumb stiffness-brachydactyly-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_293199 Label(s): Pleomorphic rhabdomyosarcoma + 'Pleomorphic rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rhabdomyosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_85338 Label(s): X-linked intellectual disability-ataxia-apraxia syndrome + 'X-linked intellectual disability-ataxia-apraxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'X-linked intellectual disability-ataxia-apraxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_1074 Label(s): Ankyloblepharon filiforme adnatum-imperforate anus syndrome + 'Ankyloblepharon filiforme adnatum-imperforate anus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85336 Label(s): X-linked neurodegenerative syndrome, Hamel type + 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_85335 Label(s): Fried syndrome + 'Fried syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fried syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1071 Label(s): Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome + 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ankyloblepharon filiforme adnatum' + 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_1070 Label(s): Anisakiasis + 'Anisakiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_85332 Label(s): X-linked intellectual disability-retinitis pigmentosa syndrome + 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome X' + 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_85331 Label(s): OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome + 'OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85330 Label(s): X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome + 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MASA syndrome' Class: http://www.orpha.net/ORDO/Orphanet_158014 Label(s): Rosaï-Dorfman disease + 'Rosaï-Dorfman disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_55596 Label(s): HNRNPDL-related limb-girdle muscular dystrophy D3 + 'HNRNPDL-related limb-girdle muscular dystrophy D3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_55595 Label(s): TNP03-related limb-girdle muscular dystrophy D2 + 'TNP03-related limb-girdle muscular dystrophy D2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2166 Label(s): Holoprosencephaly-postaxial polydactyly syndrome + 'Holoprosencephaly-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Holoprosencephaly-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_369837 Label(s): Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome + 'Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_3275 Label(s): Spondylocarpotarsal synostosis + 'Spondylocarpotarsal synostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filamin-related bone disorder' + 'Spondylocarpotarsal synostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_3273 Label(s): Synovial sarcoma + 'Synovial sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_93942 Label(s): OBSOLETE: Superior celosomia + 'OBSOLETE: Superior celosomia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_1069 Label(s): Aniridia-absent patella syndrome + 'Aniridia-absent patella syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic aniridia' + 'Aniridia-absent patella syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_443227 Label(s): Paratyphoid fever + 'Paratyphoid fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare form of salmonellosis' Class: http://www.orpha.net/ORDO/Orphanet_1067 Label(s): Aniridia-ptosis-intellectual disability-familial obesity syndrome + 'Aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'Aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic aniridia' Class: http://www.orpha.net/ORDO/Orphanet_85329 Label(s): X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome + 'X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1065 Label(s): Aniridia-cerebellar ataxia-intellectual disability syndrome + 'Aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic aniridia' + 'Aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1064 Label(s): Aniridia-renal agenesis-psychomotor retardation syndrome + 'Aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic aniridia' + 'Aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85326 Label(s): X-linked intellectual disability, Stoll type + 'X-linked intellectual disability, Stoll type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Stoll type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85325 Label(s): X-linked intellectual disability, Stevenson type + 'X-linked intellectual disability, Stevenson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Stevenson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85324 Label(s): X-linked intellectual disability, Shrimpton type + 'X-linked intellectual disability, Shrimpton type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Shrimpton type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1060 Label(s): Systemic cystic angiomatosis-Seip syndrome + 'Systemic cystic angiomatosis-Seip syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Congenital generalized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_85322 Label(s): X-linked intellectual disability, Pai type + 'X-linked intellectual disability, Pai type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Pai type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85321 Label(s): Deafness-intellectual disability syndrome, Martin-Probst type + 'Deafness-intellectual disability syndrome, Martin-Probst type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Deafness-intellectual disability syndrome, Martin-Probst type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Deafness-intellectual disability syndrome, Martin-Probst type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Deafness-intellectual disability syndrome, Martin-Probst type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Deafness-intellectual disability syndrome, Martin-Probst type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85320 Label(s): X-linked intellectual disability-macrocephaly-macroorchidism syndrome + 'X-linked intellectual disability-macrocephaly-macroorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-macrocephaly-macroorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_158003 Label(s): Xanthoma disseminatum + 'Xanthoma disseminatum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_213741 Label(s): OBSOLETE: Adenoid cystic carcinoma of the corpus uteri + 'OBSOLETE: Adenoid cystic carcinoma of the corpus uteri' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Adenoid cystic carcinoma of the cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_3269 Label(s): Congenital radioulnar synostosis + 'Congenital radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joint formation defects' Class: http://www.orpha.net/ORDO/Orphanet_9 Label(s): Tetrasomy X + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function' + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polysomy of X chromosome' + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_8 Label(s): 47,XYY syndrome + '47,XYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Y chromosome number anomaly' Class: http://www.orpha.net/ORDO/Orphanet_7 Label(s): 3C syndrome + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a Dandy-Walker malformation as a major feature' + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a Dandy-Walker malformation as a major feature' + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_5 Label(s): Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with hypoparathyroidism' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '3-hydroxyacyl-CoA dehydrogenase deficiency' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_3263 Label(s): Syngnathia-cleft palate syndrome + 'Syngnathia-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3262 Label(s): Dobrow syndrome + 'Dobrow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant craniofacial involvement' Class: http://www.orpha.net/ORDO/Orphanet_3261 Label(s): Autoimmune lymphoproliferative syndrome + 'Autoimmune lymphoproliferative syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' + 'Autoimmune lymphoproliferative syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' + 'Autoimmune lymphoproliferative syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoid hemopathy' Class: http://www.orpha.net/ORDO/Orphanet_1057 Label(s): OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome + 'OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_85319 Label(s): X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome + 'X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1055 Label(s): Congenital left ventricular aneurysm + 'Congenital left ventricular aneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare congenital non-syndromic heart malformation' Class: http://www.orpha.net/ORDO/Orphanet_1054 Label(s): Aneurysm of sinus of Valsalva + 'Aneurysm of sinus of Valsalva' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ascending aorta anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1053 Label(s): Vein of Galen aneurysmal malformation + 'Vein of Galen aneurysmal malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurovascular malformation' + 'Vein of Galen aneurysmal malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare arteriovenous malformation' + 'Vein of Galen aneurysmal malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic vascular anomaly' + 'Vein of Galen aneurysmal malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_1052 Label(s): Mosaic variegated aneuploidy syndrome + 'Mosaic variegated aneuploidy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mosaic variegated aneuploidy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare chromosomal anomaly' + 'Mosaic variegated aneuploidy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Mosaic variegated aneuploidy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Mosaic variegated aneuploidy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mosaic variegated aneuploidy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_1051 Label(s): Ramos-Arroyo syndrome + 'Ramos-Arroyo syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Ramos-Arroyo syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ramos-Arroyo syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ramos-Arroyo syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_213736 Label(s): Low-grade neuroendocrine tumor of the corpus uteri + 'Low-grade neuroendocrine tumor of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_2180 Label(s): Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome + 'Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2181 Label(s): Hydrocephaly-tall stature-joint laxity syndrome + 'Hydrocephaly-tall stature-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hydrocephaly-tall stature-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2182 Label(s): Hydrocephalus with stenosis of the aqueduct of Sylvius + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'L1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2183 Label(s): Hydrocephalus-obesity-hypogonadism syndrome + 'Hydrocephalus-obesity-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' + 'Hydrocephalus-obesity-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_213731 Label(s): High-grade neuroendocrine carcinoma of the corpus uteri + 'High-grade neuroendocrine carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of corpus uteri' + 'High-grade neuroendocrine carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' Class: http://www.orpha.net/ORDO/Orphanet_3259 Label(s): Syndactyly-polydactyly-ear lobe syndrome + 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_601028 Label(s): Non-syndromic anorectal malformation with rectovaginal fistula + 'Non-syndromic anorectal malformation with rectovaginal fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_521219 Label(s): Mirizzi syndrome + 'Mirizzi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_3253 Label(s): Cleft lip/palate-ectodermal dysplasia syndrome + 'Cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_415675 Label(s): OBSOLETE: Small pox + 'OBSOLETE: Small pox' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Human infection by orthopoxvirus' Class: http://www.orpha.net/ORDO/Orphanet_1139 Label(s): OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome + 'OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' Class: http://www.orpha.net/ORDO/Orphanet_1048 Label(s): Isolated anencephaly/exencephaly + 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neural tube closure defect' Class: http://www.orpha.net/ORDO/Orphanet_1046 Label(s): Lethal hemolytic anemia-genital anomalies syndrome + 'Lethal hemolytic anemia-genital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional hemolytic anemia' + 'Lethal hemolytic anemia-genital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_93955 Label(s): OBSOLETE: Benign essential blepharospasm + 'OBSOLETE: Benign essential blepharospasm' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_1044 Label(s): OBSOLETE: Anemia due to adenosine triphosphatase deficiency + 'OBSOLETE: Anemia due to adenosine triphosphatase deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare constitutional hemolytic anemia due to an enzyme disorder' Class: http://www.orpha.net/ORDO/Orphanet_293165 Label(s): Skin fragility-woolly hair-palmoplantar keratoderma syndrome + 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with woolly hair' + 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1041 Label(s): Hydrops fetalis + 'Hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_1040 Label(s): Metaphyseal anadysplasia + 'Metaphyseal anadysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_213726 Label(s): Serous carcinoma of the corpus uteri + 'Serous carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_1077 Label(s): Dental ankylosis + 'Dental ankylosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontal or periodontal disorder' + 'Dental ankylosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_213721 Label(s): Undifferentiated carcinoma of the corpus uteri + 'Undifferentiated carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_2195 Label(s): Dicarboxylic aminoaciduria + 'Dicarboxylic aminoaciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of amino acid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_2197 Label(s): Idiopathic hypercalciuria + 'Idiopathic hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Idiopathic hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Idiopathic hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_183663 Label(s): Hyper-IgM syndrome with susceptibility to opportunistic infections + 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_3243 Label(s): Sweet syndrome + 'Sweet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'Sweet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Sweet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome' + 'Sweet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' + 'Sweet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome of childhood' Class: http://www.orpha.net/ORDO/Orphanet_3241 Label(s): Deafness-craniofacial syndrome + 'Deafness-craniofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Deafness-craniofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Deafness-craniofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_87503 Label(s): Mal de Meleda + 'Mal de Meleda' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_1035 Label(s): Beta-mercaptolactate cysteine disulfiduria + 'Beta-mercaptolactate cysteine disulfiduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Beta-mercaptolactate cysteine disulfiduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Biological anomaly without phenotypic characterization' Class: http://www.orpha.net/ORDO/Orphanet_1034 Label(s): OBSOLETE: Amniotic bands + 'OBSOLETE: Amniotic bands' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_1032 Label(s): OBSOLETE: Hyperdibasic aminoaciduria type 1 + 'OBSOLETE: Hyperdibasic aminoaciduria type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Lysinuric protein intolerance' Class: http://www.orpha.net/ORDO/Orphanet_1031 Label(s): Enamel-renal syndrome + 'Enamel-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Enamel-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Enamel-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Enamel-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_293150 Label(s): Familial clubfoot due to PITX1 point mutation + 'Familial clubfoot due to PITX1 point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Patellar dysostosis' + 'Familial clubfoot due to PITX1 point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial clubfoot with or without associated lower limb anomalies' Class: http://www.orpha.net/ORDO/Orphanet_99688 Label(s): Dermotrichic syndrome + 'Dermotrichic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3038 Label(s): Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome + 'Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_213711 Label(s): Endometrial stromal sarcoma + 'Endometrial stromal sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_3239 Label(s): Deafness-vitiligo-achalasia syndrome + 'Deafness-vitiligo-achalasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3238 Label(s): Cardiospondylocarpofacial syndrome + 'Cardiospondylocarpofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3237 Label(s): Multiple synostoses syndrome + 'Multiple synostoses syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' + 'Multiple synostoses syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3236 Label(s): Conductive deafness-ptosis-skeletal anomalies syndrome + 'Conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3235 Label(s): Progressive deafness with stapes fixation + 'Progressive deafness with stapes fixation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_183675 Label(s): Recurrent infections associated with rare immunoglobulin isotypes deficiency + 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_3232 Label(s): Deafness-ear malformation-facial palsy syndrome + 'Deafness-ear malformation-facial palsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_183678 Label(s): Hermansky-Pudlak syndrome due to AP-3 deficiency + 'Hermansky-Pudlak syndrome due to AP-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hermansky-Pudlak syndrome' + 'Hermansky-Pudlak syndrome due to AP-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' + 'Hermansky-Pudlak syndrome due to AP-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with hypopigmentation' Class: http://www.orpha.net/ORDO/Orphanet_295028 Label(s): Tibio-fibular synostosis + 'Tibio-fibular synostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joint formation defects' Class: http://www.orpha.net/ORDO/Orphanet_53347 Label(s): Brody myopathy + 'Brody myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-dystrophic myopathy' + 'Brody myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein SERCA1' Class: http://www.orpha.net/ORDO/Orphanet_1028 Label(s): Amelo-onycho-hypohidrotic syndrome + 'Amelo-onycho-hypohidrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1027 Label(s): Autosomal recessive amelia + 'Autosomal recessive amelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with combined reduction defects of upper and lower limbs' Class: http://www.orpha.net/ORDO/Orphanet_1023 Label(s): Congenital generalized hypertrichosis, Ambras type + 'Congenital generalized hypertrichosis, Ambras type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypertrichosis lanuginosa congenita' Class: http://www.orpha.net/ORDO/Orphanet_293144 Label(s): Familial clubfoot due to 5q31 microdeletion + 'Familial clubfoot due to 5q31 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial clubfoot with or without associated lower limb anomalies' Class: http://www.orpha.net/ORDO/Orphanet_1021 Label(s): Amaurosis-hypertrichosis syndrome + 'Amaurosis-hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' + 'Amaurosis-hypertrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_1020 Label(s): Early-onset autosomal dominant Alzheimer disease + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with dementia' + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_3229 Label(s): OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome + 'OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3226 Label(s): Deafness-lymphedema-leukemia syndrome + 'Deafness-lymphedema-leukemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late-onset primary lymphedema without systemic or visceral involvement' + 'Deafness-lymphedema-leukemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of hematopoietic and lymphoid tissues' + 'Deafness-lymphedema-leukemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Deafness-lymphedema-leukemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3225 Label(s): Hearing loss-familial salivary gland insensitivity to aldosterone syndrome + 'Hearing loss-familial salivary gland insensitivity to aldosterone syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3224 Label(s): Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome + 'Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3222 Label(s): Phosphoribosylpyrophosphate synthetase superactivity + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_289513 Label(s): 12q15q21.1 microdeletion syndrome + '12q15q21.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 12' Class: http://www.orpha.net/ORDO/Orphanet_261197 Label(s): Proximal 16p11.2 microdeletion syndrome + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_1019 Label(s): Epstein syndrome + 'Epstein syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MYH9-related disease' Class: http://www.orpha.net/ORDO/Orphanet_1018 Label(s): X-linked Alport syndrome-diffuse leiomyomatosis + 'X-linked Alport syndrome-diffuse leiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alport syndrome' + 'X-linked Alport syndrome-diffuse leiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_261190 Label(s): 15q14 microdeletion syndrome + '15q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 15' Class: http://www.orpha.net/ORDO/Orphanet_1014 Label(s): Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome + 'Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1011 Label(s): Alopecia-hypogonadism-extrapyramidal syndrome + 'Alopecia-hypogonadism-extrapyramidal syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Woodhouse-Sakati syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1010 Label(s): Autosomal dominant palmoplantar keratoderma and congenital alopecia + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_598 Label(s): Multiminicore myopathy + 'Multiminicore myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of selenoprotein N1' + 'Multiminicore myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with malignant hyperthermia' + 'Multiminicore myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy with cores' Class: http://www.orpha.net/ORDO/Orphanet_99413 Label(s): Turner syndrome due to structural X chromosome anomalies + 'Turner syndrome due to structural X chromosome anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Turner syndrome' Class: http://www.orpha.net/ORDO/Orphanet_596 Label(s): X-linked centronuclear myopathy + 'X-linked centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'X-linked centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of myotubularin' + 'X-linked centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'X-linked centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Centronuclear myopathy' Class: http://www.orpha.net/ORDO/Orphanet_319487 Label(s): Familial papillary or follicular thyroid carcinoma + 'Familial papillary or follicular thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial nonmedullary thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_592 Label(s): Macrophagic myofasciitis + 'Macrophagic myofasciitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_3218 Label(s): Deafness-epiphyseal dysplasia-short stature syndrome + 'Deafness-epiphyseal dysplasia-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_99663 Label(s): OBSOLETE: Vestibular torticollis + 'OBSOLETE: Vestibular torticollis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Adult-onset cervical dystonia, DYT23 type' Class: http://www.orpha.net/ORDO/Orphanet_3216 Label(s): Conductive deafness-malformed external ear syndrome + 'Conductive deafness-malformed external ear syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3215 Label(s): OBSOLETE: Deafness-white hair-contractures-papillomas syndrome + 'OBSOLETE: Deafness-white hair-contractures-papillomas syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_3214 Label(s): Deaf blind hypopigmentation syndrome, Yemenite type + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypopigmentation of the skin' + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hypopigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_3213 Label(s): Deafness-opticoacoustic nerve atrophy-dementia syndrome + 'Deafness-opticoacoustic nerve atrophy-dementia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Mohr-Tranebjaerg syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3212 Label(s): Autosomal dominant optic atrophy and congenital deafness + 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant optic atrophy plus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3210 Label(s): Summitt syndrome + 'Summitt syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_100002 Label(s): Extraneural perineurioma + 'Extraneural perineurioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Perineurioma' Class: http://www.orpha.net/ORDO/Orphanet_171445 Label(s): Muscle filaminopathy + 'Muscle filaminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of filamin C' + 'Muscle filaminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_93973 Label(s): Carpenter-Waziri syndrome + 'Carpenter-Waziri syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alpha-thalassemia-X-linked intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1008 Label(s): Alopecia-epilepsy-pyorrhea-intellectual disability syndrome + 'Alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' Class: http://www.orpha.net/ORDO/Orphanet_1006 Label(s): Alopecia antibody deficiency + 'Alopecia antibody deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Alopecia antibody deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_1005 Label(s): Alopecia-contractures-dwarfism-intellectual disability syndrome + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_617304 Label(s): Amniotic fluid embolism + 'Amniotic fluid embolism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_1003 Label(s): Scalp defects-postaxial polydactyly syndrome + 'Scalp defects-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed dermis disorder' + 'Scalp defects-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Scalp defects-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic mixed dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_1001 Label(s): 2q37 microdeletion syndrome + '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 2' + '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1000 Label(s): Ocular albinism with late-onset sensorineural deafness + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ocular albinism' + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_589 Label(s): Myasthenia gravis + 'Myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune-mediated acquired neuromuscular junction disease' + 'Myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' Class: http://www.orpha.net/ORDO/Orphanet_588 Label(s): Muscle-eye-brain disease + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of FKRP' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with developmental anomaly' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of fukutin' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Muscle-eye-brain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_587 Label(s): Muir-Torre syndrome + 'Muir-Torre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary nonpolyposis colon cancer' + 'Muir-Torre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' + 'Muir-Torre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_586 Label(s): Cystic fibrosis + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic pancreatic disease' + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with obstructive azoospermia' + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with obstructive azoospermia' + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for lung transplant' + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic biliary tract disease' + 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pancreatic disease' Class: http://www.orpha.net/ORDO/Orphanet_585 Label(s): Multiple sulfatase deficiency + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental anomaly of metabolic origin' + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis' + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis with epilepsy' + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with fatal disease course' + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_584 Label(s): Mucopolysaccharidosis type 7 + 'Mucopolysaccharidosis type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Mucopolysaccharidosis type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_583 Label(s): Mucopolysaccharidosis type 6 + 'Mucopolysaccharidosis type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_582 Label(s): Mucopolysaccharidosis type 4 + 'Mucopolysaccharidosis type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' + 'Mucopolysaccharidosis type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis' Class: http://www.orpha.net/ORDO/Orphanet_581 Label(s): Mucopolysaccharidosis type 3 + 'Mucopolysaccharidosis type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with epilepsy' + 'Mucopolysaccharidosis type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Mucopolysaccharidosis type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' + 'Mucopolysaccharidosis type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Mucopolysaccharidosis type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis' Class: http://www.orpha.net/ORDO/Orphanet_580 Label(s): Mucopolysaccharidosis type 2 + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis with skin involvement' + 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_3206 Label(s): Stüve-Wiedemann syndrome + 'Stüve-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Campomelic dysplasia and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_3205 Label(s): Sturge-Weber syndrome + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurocutaneous syndrome with epilepsy' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare capillary malformation with associated anomalies' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral diseases of vascular origin with epilepsy' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' Class: http://www.orpha.net/ORDO/Orphanet_3204 Label(s): Stormorken-Sjaastad-Langslet syndrome + 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' + 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_3203 Label(s): Overhydrated hereditary stomatocytosis + 'Overhydrated hereditary stomatocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_3202 Label(s): Dehydrated hereditary stomatocytosis + 'Dehydrated hereditary stomatocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_3201 Label(s): Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome + 'Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3200 Label(s): Arthrogryposis-ectodermal dysplasia syndrome + 'Arthrogryposis-ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' + 'Arthrogryposis-ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100011 Label(s): Lissencephaly with cerebellar hypoplasia type A + 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_3292 Label(s): Tel Hashomer camptodactyly syndrome + 'Tel Hashomer camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skeletal muscle disease' + 'Tel Hashomer camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with limb anomaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_3293 Label(s): Telecanthus-hypertelorism-strabismus-pes cavus syndrome + 'Telecanthus-hypertelorism-strabismus-pes cavus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Telecanthus-hypertelorism-strabismus-pes cavus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Telecanthus-hypertelorism-strabismus-pes cavus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Telecanthus-hypertelorism-strabismus-pes cavus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_579 Label(s): Mucopolysaccharidosis type 1 + 'Mucopolysaccharidosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' + 'Mucopolysaccharidosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_578 Label(s): Mucolipidosis type IV + 'Mucolipidosis type IV' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucolipidosis' + 'Mucolipidosis type IV' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with epilepsy' + 'Mucolipidosis type IV' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Mucolipidosis type IV' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Mucolipidosis type IV' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Mucolipidosis type IV' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_577 Label(s): Mucolipidosis type III + 'Mucolipidosis type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' + 'Mucolipidosis type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucolipidosis' Class: http://www.orpha.net/ORDO/Orphanet_576 Label(s): Mucolipidosis type II + 'Mucolipidosis type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mucolipidosis type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mucolipidosis type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucolipidosis' + 'Mucolipidosis type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_575 Label(s): Muckle-Wells syndrome + 'Muckle-Wells syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cryopyrin-associated periodic syndrome' + 'Muckle-Wells syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic systemic disease with glomerulopathy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_574 Label(s): Monosomy 21 + 'Monosomy 21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal monosomy' + 'Monosomy 21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_573 Label(s): Monilethrix + 'Monilethrix' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_572 Label(s): Immunodeficiency by defective expression of MHC class II + 'Immunodeficiency by defective expression of MHC class II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Severe immune-mediated enteropathy' + 'Immunodeficiency by defective expression of MHC class II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_97234 Label(s): Glycogen storage disease due to phosphoglycerate mutase deficiency + 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' + 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' Class: http://www.orpha.net/ORDO/Orphanet_570 Label(s): Moebius syndrome + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial nerve and nuclear aplasia' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paralytic facial malformation' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99642 Label(s): Spondyloepimetaphyseal dysplasia, Handigodu type + 'Spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2404 Label(s): Loiasis + 'Loiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filariasis' Class: http://www.orpha.net/ORDO/Orphanet_97238 Label(s): Rippling muscle disease + 'Rippling muscle disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-dystrophic myopathy' + 'Rippling muscle disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of caveolin-3' Class: http://www.orpha.net/ORDO/Orphanet_2405 Label(s): Thickened earlobes-conductive deafness syndrome + 'Thickened earlobes-conductive deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_103920 Label(s): Undetermined colitis + 'Undetermined colitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_1301 Label(s): Bronchiectasis-oligospermia syndrome + 'Bronchiectasis-oligospermia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Young syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2407 Label(s): Laryngo-onycho-cutaneous syndrome + 'Laryngo-onycho-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Junctional epidermolysis bullosa' + 'Laryngo-onycho-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with conjunctival involvement as a major feature' + 'Laryngo-onycho-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Laryngo-onycho-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Laryngo-onycho-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic respiratory malformation' + 'Laryngo-onycho-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Laryngo-onycho-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic respiratory or mediastinal malformation' + 'Laryngo-onycho-cutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_86817 Label(s): Hemolytic anemia due to adenylate kinase deficiency + 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_289548 Label(s): Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency + 'Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_85110 Label(s): Familial encephalopathy with neuroserpin inclusion bodies + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serpinopathy with toxic serpin polymerization' + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_569 Label(s): Familial or sporadic hemiplegic migraine + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic calcium channel defect' + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic central nervous system and retinal vascular disease' + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign partial infantile seizures' + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic headache' + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'Familial or sporadic hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare headache' Class: http://www.orpha.net/ORDO/Orphanet_568 Label(s): Microphthalmia, Lenz type + 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lens shape anomaly' + 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_567 Label(s): 22q11.2 deletion syndrome + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with a chromosomal anomaly' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to absence of thymus' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 22' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with hypoparathyroidism' + '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_566 Label(s): Congenital microcoria + 'Congenital microcoria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental anomaly without extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_565 Label(s): Menkes disease + 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metal transport or utilization disorder with epilepsy' + 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hair shaft abnormality' + 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of copper metabolism' Class: http://www.orpha.net/ORDO/Orphanet_564 Label(s): Meckel syndrome + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lens shape anomaly' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic visceral malformation' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_563 Label(s): Peripartum cardiomyopathy + 'Peripartum cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Peripartum cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial dilated cardiomyopathy' + 'Peripartum cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for heart transplant' Class: http://www.orpha.net/ORDO/Orphanet_562 Label(s): McCune-Albright syndrome + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fibrous dysplasia/McCune-Albright syndrome' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Precocious puberty in female' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic precocious puberty in female' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with Cushing syndrome as a major feature' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare peripheral precocious puberty' + 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_561 Label(s): Marshall-Smith syndrome + 'Marshall-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Marshall-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Marshall-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' + 'Marshall-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_560 Label(s): Marshall syndrome + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 11 collagen-related bone disorder' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' + 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_103915 Label(s): OBSOLETE: Immunoproliferative small intestinal disease + 'OBSOLETE: Immunoproliferative small intestinal disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Alpha-heavy chain disease' Class: http://www.orpha.net/ORDO/Orphanet_423384 Label(s): Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency + 'Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_103910 Label(s): Congenital enterocyte heparan sulfate deficiency + 'Congenital enterocyte heparan sulfate deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital enteropathy involving intestinal mucosa development' Class: http://www.orpha.net/ORDO/Orphanet_102069 Label(s): OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis + 'OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary localized amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_63275 Label(s): Pemphigoid gestationis + 'Pemphigoid gestationis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune bullous skin disease' Class: http://www.orpha.net/ORDO/Orphanet_63273 Label(s): Distal myopathy with posterior leg and anterior hand involvement + 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_559 Label(s): Marinesco-Sjögren syndrome + 'Marinesco-Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Marinesco-Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Marinesco-Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Marinesco-Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Marinesco-Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic epicanthus' + 'Marinesco-Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Marinesco-Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebellar ataxia with peripheral neuropathy' + 'Marinesco-Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_558 Label(s): Marfan syndrome + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic keratoconus' + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome and Marfan-related disorders' + 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic keratoconus' Class: http://www.orpha.net/ORDO/Orphanet_556 Label(s): Malakoplakia + 'Malakoplakia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_552 Label(s): MODY + 'MODY' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'MODY' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare diabetes mellitus type 2' Class: http://www.orpha.net/ORDO/Orphanet_551 Label(s): MERRF + 'MERRF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'MERRF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'MERRF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'MERRF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'MERRF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'MERRF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with dilated cardiomyopathy' + 'MERRF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'MERRF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' + 'MERRF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_550 Label(s): MELAS + 'MELAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'MELAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'MELAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'MELAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'MELAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cortical involvement' + 'MELAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'MELAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with dilated cardiomyopathy' + 'MELAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' + 'MELAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'MELAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_289560 Label(s): Mitochondrial membrane protein-associated neurodegeneration + 'Mitochondrial membrane protein-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Mitochondrial membrane protein-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_261144 Label(s): FOXG1 syndrome due to 14q12 microdeletion + 'FOXG1 syndrome due to 14q12 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'FOXG1 syndrome' + 'FOXG1 syndrome due to 14q12 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_63269 Label(s): Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis + 'Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XX disorder of sex development induced by fetal androgens excess' + 'Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Antley-Bixler syndrome' + 'Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital adrenal hyperplasia' Class: http://www.orpha.net/ORDO/Orphanet_1318 Label(s): Campomelia, Cumming type + 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Campomelic dysplasia and related disorders' + 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_549 Label(s): Legionnaires disease + 'Legionnaires disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Legionellosis' Class: http://www.orpha.net/ORDO/Orphanet_63261 Label(s): HERNS syndrome + 'HERNS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_545 Label(s): Follicular lymphoma + 'Follicular lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Indolent B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_543 Label(s): Burkitt lymphoma + 'Burkitt lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive B-cell non-Hodgkin lymphoma' + 'Burkitt lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' Class: http://www.orpha.net/ORDO/Orphanet_401979 Label(s): Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type + 'Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1497 Label(s): X-linked complicated corpus callosum dysgenesis + 'X-linked complicated corpus callosum dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'L1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_537 Label(s): Toxic epidermal necrolysis + 'Toxic epidermal necrolysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum' Class: http://www.orpha.net/ORDO/Orphanet_536 Label(s): Systemic lupus erythematosus + 'Systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thrombotic microangiopathy' + 'Systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_534 Label(s): Oculocerebrorenal syndrome of Lowe + 'Oculocerebrorenal syndrome of Lowe' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Oculocerebrorenal syndrome of Lowe' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Oculocerebrorenal syndrome of Lowe' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Oculocerebrorenal syndrome of Lowe' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Oculocerebrorenal syndrome of Lowe' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Oculocerebrorenal syndrome of Lowe' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Oculocerebrorenal syndrome of Lowe' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'Oculocerebrorenal syndrome of Lowe' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal disease with cataract' + 'Oculocerebrorenal syndrome of Lowe' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of amino acid absorption and transport' + 'Oculocerebrorenal syndrome of Lowe' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_533 Label(s): Listeriosis + 'Listeriosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_216804 Label(s): Osteogenesis imperfecta type 2 + 'Osteogenesis imperfecta type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteogenesis imperfecta' + 'Osteogenesis imperfecta type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' Class: http://www.orpha.net/ORDO/Orphanet_531 Label(s): Miller-Dieker syndrome + 'Miller-Dieker syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic lissencephaly' + 'Miller-Dieker syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' + 'Miller-Dieker syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the short arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_530 Label(s): Lipoid proteinosis + 'Lipoid proteinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Lipoid proteinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' + 'Lipoid proteinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_263331 Label(s): Well-differentiated thymic neuroendocrine carcinoma + 'Well-differentiated thymic neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thymic neuroendocrine carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_97278 Label(s): PPoma + 'PPoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning neuroendocrine tumor of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_251004 Label(s): Paternal uniparental disomy of chromosome 1 + 'Paternal uniparental disomy of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_157997 Label(s): Benign cephalic histiocytosis + 'Benign cephalic histiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_251009 Label(s): Maternal uniparental disomy of chromosome 1 + 'Maternal uniparental disomy of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_457077 Label(s): TAFRO syndrome + 'TAFRO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'TAFRO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired platelet anomaly' Class: http://www.orpha.net/ORDO/Orphanet_157991 Label(s): Generalized eruptive histiocytosis + 'Generalized eruptive histiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_261120 Label(s): 14q11.2 microdeletion syndrome + '14q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_1328 Label(s): Camurati-Engelmann disease + 'Camurati-Engelmann disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_529 Label(s): Roch-Leri mesosomatous lipomatosis + 'Roch-Leri mesosomatous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' + 'Roch-Leri mesosomatous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic subcutaneous tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_528 Label(s): Congenital generalized lipodystrophy + 'Congenital generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Congenital generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Congenital generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' + 'Congenital generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lipodystrophy' + 'Congenital generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_498481 Label(s): LRP5-related primary osteoporosis + 'LRP5-related primary osteoporosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_526 Label(s): Liddle syndrome + 'Liddle syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Liddle syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cause of hypertension' Class: http://www.orpha.net/ORDO/Orphanet_525 Label(s): Lichen planopilaris + 'Lichen planopilaris' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Lichen planopilaris' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_524 Label(s): Li-Fraumeni syndrome + 'Li-Fraumeni syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited hematologic cancer-predisposing syndrome' + 'Li-Fraumeni syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with Cushing syndrome as a major feature' + 'Li-Fraumeni syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_523 Label(s): Hereditary leiomyomatosis and renal cell cancer + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited gynecological cancer-predisposing syndrome' + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_263324 Label(s): Thymoma type AB + 'Thymoma type AB' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thymoma' Class: http://www.orpha.net/ORDO/Orphanet_521 Label(s): Chronic myeloid leukemia + 'Chronic myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloproliferative neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_520 Label(s): Acute promyelocytic leukemia + 'Acute promyelocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_251014 Label(s): 2q31.1 microdeletion syndrome + '2q31.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 2' Class: http://www.orpha.net/ORDO/Orphanet_1153 Label(s): OBSOLETE: Transient neonatal arthrogryposis + 'OBSOLETE: Transient neonatal arthrogryposis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_263352 Label(s): Postcardiotomy right ventricular failure + 'Postcardiotomy right ventricular failure' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cardiac disease' Class: http://www.orpha.net/ORDO/Orphanet_261112 Label(s): Monosomy 9p + 'Monosomy 9p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_85162 Label(s): Facial onset sensory and motor neuronopathy + 'Facial onset sensory and motor neuronopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Facial onset sensory and motor neuronopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_85163 Label(s): Hypomyelination-congenital cataract syndrome + 'Hypomyelination-congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Hypomyelination-congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hypomyelination-congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Hypomyelination-congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_85164 Label(s): Camptodactyly-tall stature-scoliosis-hearing loss syndrome + 'Camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'FGFR3-related chondrodysplasia' + 'Camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_85166 Label(s): Platyspondylic dysplasia, Torrance type + 'Platyspondylic dysplasia, Torrance type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' + 'Platyspondylic dysplasia, Torrance type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_79644 Label(s): Autosomal recessive hyperinsulinism due to Kir6.2 deficiency + 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-resistant diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_518 Label(s): Acute megakaryoblastic leukemia + 'Acute megakaryoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_517 Label(s): Acute myelomonocytic leukemia + 'Acute myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_2430 Label(s): Congenital macroglossia + 'Congenital macroglossia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Macroglossia' Class: http://www.orpha.net/ORDO/Orphanet_514 Label(s): Acute monoblastic/monocytic leukemia + 'Acute monoblastic/monocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_512 Label(s): Metachromatic leukodystrophy + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with dementia' + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis' + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis with epilepsy' + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_511 Label(s): Maple syrup urine disease + 'Maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of branched-chain amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_510 Label(s): Lesch-Nyhan syndrome + 'Lesch-Nyhan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_263310 Label(s): Thymoma type A + 'Thymoma type A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thymoma' Class: http://www.orpha.net/ORDO/Orphanet_2435 Label(s): Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome + 'Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic pigmentation anomaly of the skin' + 'Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pigmentation anomaly of the skin' Class: http://www.orpha.net/ORDO/Orphanet_519392 Label(s): Isolated iridoschisis + 'Isolated iridoschisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental anomaly without extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_157973 Label(s): Congenital muscular dystrophy due to LMNA mutation + 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with striated muscle involvement' Class: http://www.orpha.net/ORDO/Orphanet_440987 Label(s): Isolated agenesis of gallbladder + 'Isolated agenesis of gallbladder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_85170 Label(s): Mesomelic dysplasia, Savarirayan type + 'Mesomelic dysplasia, Savarirayan type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_261102 Label(s): Distal 7q11.23 microduplication syndrome + 'Distal 7q11.23 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_509 Label(s): Leptospirosis + 'Leptospirosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_507 Label(s): Leishmaniasis + 'Leishmaniasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_505 Label(s): Graham Little-Piccardi-Lassueur syndrome + 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lichen planus' + 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_503 Label(s): Larsen syndrome + 'Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filamin-related bone disorder' + 'Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' + 'Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' Class: http://www.orpha.net/ORDO/Orphanet_502 Label(s): Trichorhinophalangeal syndrome type 2 + 'Trichorhinophalangeal syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Trichorhinophalangeal syndrome' + 'Trichorhinophalangeal syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 8' + 'Trichorhinophalangeal syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Trichorhinophalangeal syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_501 Label(s): Lafora disease + 'Lafora disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_353298 Label(s): Roifman syndrome + 'Roifman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Roifman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immuno-osseous dysplasia' + 'Roifman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Roifman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_324999 Label(s): JMP syndrome + 'JMP syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Proteasome-associated autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_157965 Label(s): SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome + 'SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic Ehlers-Danlos syndrome' + 'SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_35688 Label(s): OBSOLETE: Madelung deformity + 'OBSOLETE: Madelung deformity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Léri-Weill dyschondrosteosis' Class: http://www.orpha.net/ORDO/Orphanet_86830 Label(s): Chronic myeloproliferative disease, unclassifiable + 'Chronic myeloproliferative disease, unclassifiable' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloproliferative neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_600993 Label(s): Non-syndromic anorectal malformation with vestibular fistula + 'Non-syndromic anorectal malformation with vestibular fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_279897 Label(s): Primary oculocerebral lymphoma + 'Primary oculocerebral lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary organ-specific lymphoma' + 'Primary oculocerebral lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eye tumor' + 'Primary oculocerebral lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nervous system tumor' Class: http://www.orpha.net/ORDO/Orphanet_353220 Label(s): Familial primary localized cutaneous amyloidosis + 'Familial primary localized cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' + 'Familial primary localized cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary cutaneous amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_488627 Label(s): Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome + 'Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_251043 Label(s): Ring chromosome 5 syndrome + 'Ring chromosome 5 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_300751 Label(s): Familial dilated cardiomyopathy with conduction defect due to LMNA mutation + 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for heart transplant' + 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial dilated cardiomyopathy' + 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with striated muscle involvement' Class: http://www.orpha.net/ORDO/Orphanet_1340 Label(s): Cardiofaciocutaneous syndrome + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Noonan syndrome and Noonan-related syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251046 Label(s): 6p22 microdeletion syndrome + '6p22 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 6' Class: http://www.orpha.net/ORDO/Orphanet_353284 Label(s): Rubinstein-Taybi syndrome due to EP300 haploinsufficiency + 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rubinstein-Taybi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_157954 Label(s): ANE syndrome + 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_353281 Label(s): Rubinstein-Taybi syndrome due to 16p13.3 microdeletion + 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 16' + 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rubinstein-Taybi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_480682 Label(s): POGLUT1-related limb-girdle muscular dystrophy R21 + 'POGLUT1-related limb-girdle muscular dystrophy R21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosylglycan synthesis' + 'POGLUT1-related limb-girdle muscular dystrophy R21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_75392 Label(s): Periodontal Ehlers-Danlos syndrome + 'Periodontal Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Periodontal Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75391 Label(s): Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency + 'Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' Class: http://www.orpha.net/ORDO/Orphanet_600984 Label(s): Non-syndromic anorectal malformation with rectovesical fistula + 'Non-syndromic anorectal malformation with rectovesical fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_85196 Label(s): Nodulosis-arthropathy-osteolysis syndrome + 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' Class: http://www.orpha.net/ORDO/Orphanet_279888 Label(s): Acute endophthalmitis + 'Acute endophthalmitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Endophthalmitis' Class: http://www.orpha.net/ORDO/Orphanet_85199 Label(s): Craniosynostosis-anal anomalies-porokeratosis syndrome + 'Craniosynostosis-anal anomalies-porokeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Craniosynostosis-anal anomalies-porokeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleidocranial dysplasia and isolated cranial ossification defect' Class: http://www.orpha.net/ORDO/Orphanet_279882 Label(s): Spasmus nutans + 'Spasmus nutans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_423306 Label(s): Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome + 'Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_157949 Label(s): Combined immunodeficiency with granulomatosis + 'Combined immunodeficiency with granulomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency with granulomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Combined immunodeficiency with granulomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_157946 Label(s): Huntington disease-like 3 + 'Huntington disease-like 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Huntington disease-like 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Huntington disease-like 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Huntington disease-like 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Huntington disease-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75389 Label(s): Brain malformation-congenital heart disease-postaxial polydactyly syndrome + 'Brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_157941 Label(s): Huntington disease-like 1 + 'Huntington disease-like 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited human prion disease' + 'Huntington disease-like 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with chorea' Class: http://www.orpha.net/ORDO/Orphanet_75382 Label(s): Oguchi disease + 'Oguchi disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_75381 Label(s): Cystoid macular dystrophy + 'Cystoid macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_600975 Label(s): Non-syndromic anorectal malformation with rectourethral fistula, prostatic type + 'Non-syndromic anorectal malformation with rectourethral fistula, prostatic type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation with rectourethral fistula' Class: http://www.orpha.net/ORDO/Orphanet_6 Label(s): 3-methylcrotonyl-CoA carboxylase deficiency + '3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic organic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_439897 Label(s): Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome + 'Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2452 Label(s): OBSOLETE: Vascular malposition + 'OBSOLETE: Vascular malposition' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare congenital non-syndromic heart malformation' Class: http://www.orpha.net/ORDO/Orphanet_251061 Label(s): 7q31 microdeletion syndrome + '7q31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_217253 Label(s): NMDA receptor encephalitis + 'NMDA receptor encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_75377 Label(s): Central areolar choroidal dystrophy + 'Central areolar choroidal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated macular dystrophy' + 'Central areolar choroidal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated chorioretinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_75376 Label(s): Familial drusen + 'Familial drusen' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_75374 Label(s): Bradyopsia + 'Bradyopsia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal disorder' + 'Bradyopsia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_600966 Label(s): Non-syndromic anorectal malformation with rectourethral fistula, bulbar type + 'Non-syndromic anorectal malformation with rectourethral fistula, bulbar type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation with rectourethral fistula' Class: http://www.orpha.net/ORDO/Orphanet_600961 Label(s): Non-syndromic anorectal malformation with rectourethral fistula + 'Non-syndromic anorectal malformation with rectourethral fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_26791 Label(s): Multiple acyl-CoA dehydrogenase deficiency + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acyl-CoA dehydrogenase deficiency' + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular lipidosis' Class: http://www.orpha.net/ORDO/Orphanet_3110 Label(s): Rombo syndrome + 'Rombo syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' + 'Rombo syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_251071 Label(s): 8p23.1 microdeletion syndrome + '8p23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 8' + '8p23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_29822 Label(s): Spontaneous periodic hypothermia + 'Spontaneous periodic hypothermia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_293936 Label(s): EDICT syndrome + 'EDICT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic keratoconus' + 'EDICT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic keratoconus' Class: http://www.orpha.net/ORDO/Orphanet_280917 Label(s): Idiopathic posterior uveitis + 'Idiopathic posterior uveitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-infectious posterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_280914 Label(s): Idiopathic anterior uveitis + 'Idiopathic anterior uveitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_448270 Label(s): Ectopia cordis + 'Ectopia cordis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare congenital non-syndromic heart malformation' Class: http://www.orpha.net/ORDO/Orphanet_424261 Label(s): TOR1AIP1-related limb-girdle muscular dystrophy + 'TOR1AIP1-related limb-girdle muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of Torsin-1A-interacting protein 1' + 'TOR1AIP1-related limb-girdle muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_600952 Label(s): Non-syndromic anorectal malformation with perineal fistula + 'Non-syndromic anorectal malformation with perineal fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_324581 Label(s): Benign Samaritan congenital myopathy + 'Benign Samaritan congenital myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic ryanodine receptor defect' + 'Benign Samaritan congenital myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_34515 Label(s): FKRP-related limb-girdle muscular dystrophy R9 + 'FKRP-related limb-girdle muscular dystrophy R9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'FKRP-related limb-girdle muscular dystrophy R9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of FKRP' + 'FKRP-related limb-girdle muscular dystrophy R9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'FKRP-related limb-girdle muscular dystrophy R9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_247768 Label(s): Müllerian aplasia and hyperandrogenism + 'Müllerian aplasia and hyperandrogenism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'Müllerian aplasia and hyperandrogenism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XX disorder of sex development' + 'Müllerian aplasia and hyperandrogenism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial bilateral aplasia of the Müllerian ducts' Class: http://www.orpha.net/ORDO/Orphanet_243367 Label(s): Acute fatty liver of pregnancy + 'Acute fatty liver of pregnancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Acute fatty liver of pregnancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' Class: http://www.orpha.net/ORDO/Orphanet_1366 Label(s): Autosomal recessive palmoplantar keratoderma and congenital alopecia + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_90650 Label(s): Otopalatodigital syndrome type 1 + 'Otopalatodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Otopalatodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Otopalatodigital syndrome spectrum disorder' + 'Otopalatodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Otopalatodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Otopalatodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Otopalatodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Otopalatodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Otopalatodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_90653 Label(s): Stickler syndrome type 1 + 'Stickler syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Musculoskeletal disease with cataract' + 'Stickler syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stickler syndrome' + 'Stickler syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_90796 Label(s): 46,XY disorder of sex development due to isolated 17,20-lyase deficiency + '46,XY disorder of sex development due to isolated 17,20-lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development due to testicular steroidogenesis defect' Class: http://www.orpha.net/ORDO/Orphanet_90795 Label(s): Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XX disorder of sex development induced by fetal androgens excess' + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital adrenal hyperplasia' Class: http://www.orpha.net/ORDO/Orphanet_90794 Label(s): Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an adrenal disorder' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XX disorder of sex development induced by fetal androgens excess' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to adrenal disorder of genetic origin' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital adrenal hyperplasia' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to adrenal disorder' Class: http://www.orpha.net/ORDO/Orphanet_90793 Label(s): Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an adrenal disorder' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to adrenal disorder of genetic origin' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to adrenal disorder' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' Class: http://www.orpha.net/ORDO/Orphanet_33111 Label(s): Granulomatous slack skin + 'Granulomatous slack skin' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mycosis fungoides and variants' Class: http://www.orpha.net/ORDO/Orphanet_34592 Label(s): Immunodeficiency by defective expression of MHC class I + 'Immunodeficiency by defective expression of MHC class I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_261524 Label(s): Paternal uniparental disomy of chromosome X + 'Paternal uniparental disomy of chromosome X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Uniparental disomy of chromosome X' Class: http://www.orpha.net/ORDO/Orphanet_213605 Label(s): Carcinofibroma of the corpus uteri + 'Carcinofibroma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant mixed epithelial and mesenchymal tumor of corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_36382 Label(s): Familial cervical artery dissection + 'Familial cervical artery dissection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'Familial cervical artery dissection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_34521 Label(s): Distal myopathy with early respiratory muscle involvement + 'Distal myopathy with early respiratory muscle involvement' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hereditary myopathy with early respiratory failure' Class: http://www.orpha.net/ORDO/Orphanet_39812 Label(s): Graft versus host disease + 'Graft versus host disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for transplant or complication after transplantation' + 'Graft versus host disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare immune disease' Class: http://www.orpha.net/ORDO/Orphanet_231256 Label(s): Beta-thalassemia-trichothiodystrophy syndrome + 'Beta-thalassemia-trichothiodystrophy syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_43393 Label(s): Lambert-Eaton myasthenic syndrome + 'Lambert-Eaton myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune-mediated acquired neuromuscular junction disease' + 'Lambert-Eaton myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paraneoplastic neurologic syndrome' + 'Lambert-Eaton myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune neurological channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_2477 Label(s): Megalencephaly + 'Megalencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_2478 Label(s): Megalencephalic leukoencephalopathy with subcortical cysts + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_31205 Label(s): Rat-bite fever + 'Rat-bite fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_31204 Label(s): Nocardiosis + 'Nocardiosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_31202 Label(s): Melioidosis + 'Melioidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_166108 Label(s): Intellectual disability, Birk-Barel type + 'Intellectual disability, Birk-Barel type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' + 'Intellectual disability, Birk-Barel type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35612 Label(s): Nanophthalmos + 'Nanophthalmos' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated microphthalmia-anophthalmia-coloboma' + 'Nanophthalmos' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Nanophthalmos' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital malformation of the eye with glaucoma as a major feature' + 'Nanophthalmos' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Nanophthalmos' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic congenital malformation of the eye with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_435438 Label(s): Progressive myoclonic epilepsy type 7 + 'Progressive myoclonic epilepsy type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' + 'Progressive myoclonic epilepsy type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_33408 Label(s): Bullous lichen planus + 'Bullous lichen planus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_285396 Label(s): fuzzy planar cell polarity protein + 'fuzzy planar cell polarity protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-syndromic non-specific multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_33402 Label(s): Pediatric hepatocellular carcinoma + 'Pediatric hepatocellular carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hepatocellular carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_353217 Label(s): Epileptic encephalopathy with global cerebral demyelination + 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial substrate carrier disorder' + 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231568 Label(s): Autosomal dominant generalized dystrophic epidermolysis bullosa + 'Autosomal dominant generalized dystrophic epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_75327 Label(s): North Carolina macular dystrophy + 'North Carolina macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2021 Label(s): Fibrochondrogenesis + 'Fibrochondrogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 11 collagen-related bone disorder' + 'Fibrochondrogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_228012 Label(s): Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome + 'Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_33445 Label(s): Neuroectodermal melanolysosomal disease + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurocutaneous syndrome with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_3129 Label(s): Sarcosinemia + 'Sarcosinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of serine or glycine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_555402 Label(s): NAD(P)HX dehydratase deficiency + 'NAD(P)HX dehydratase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'NAD(P)HX dehydratase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'NAD(P)HX dehydratase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'NAD(P)HX dehydratase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_43119 Label(s): Acute poisoning by drugs with membrane-stabilizing effect + 'Acute poisoning by drugs with membrane-stabilizing effect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_443197 Label(s): X-linked erythropoietic protoporphyria + 'X-linked erythropoietic protoporphyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Porphyria' + 'X-linked erythropoietic protoporphyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_247868 Label(s): NLRP12-associated hereditary periodic fever syndrome + 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary periodic fever syndrome' + 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_443192 Label(s): Classic stiff person syndrome + 'Classic stiff person syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stiff person spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_46724 Label(s): Cerebral arteriovenous malformation + 'Cerebral arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurovascular malformation' + 'Cerebral arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare arteriovenous malformation' + 'Cerebral arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Cerebral arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic vascular anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85294 Label(s): X-linked epilepsy-learning disabilities-behavior disorders syndrome + 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_47045 Label(s): Familial cold urticaria + 'Familial cold urticaria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cryopyrin-associated periodic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85292 Label(s): X-linked spinocerebellar ataxia type 4 + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked cerebellar ataxia' + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare dementia' + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_308013 Label(s): Focal acral hyperkeratosis + 'Focal acral hyperkeratosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marginal papular palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_85290 Label(s): X-linked intellectual disability, Wilson type + 'X-linked intellectual disability, Wilson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2204 Label(s): Dysplastic cortical hyperostosis + 'Dysplastic cortical hyperostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_439822 Label(s): PDE4D haploinsufficiency syndrome + 'PDE4D haploinsufficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PDE4D haploinsufficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2512 Label(s): Autosomal recessive primary microcephaly + 'Autosomal recessive primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autosomal recessive primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' + 'Autosomal recessive primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cortical involvement' + 'Autosomal recessive primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated congenital microcephaly' + 'Autosomal recessive primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2514 Label(s): Autosomal dominant primary microcephaly + 'Autosomal dominant primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autosomal dominant primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated congenital microcephaly' + 'Autosomal dominant primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_314051 Label(s): Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome + 'Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_85287 Label(s): X-linked intellectual disability, Siderius type + 'X-linked intellectual disability, Siderius type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Siderius type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_247854 Label(s): OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies + 'OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_2518 Label(s): Autosomal recessive chorioretinopathy-microcephaly syndrome + 'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic chorioretinal dystrophy' + 'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_443180 Label(s): Spontaneous intracranial hypotension + 'Spontaneous intracranial hypotension' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare headache' Class: http://www.orpha.net/ORDO/Orphanet_85283 Label(s): X-linked intellectual disability, Miles-Carpenter type + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85282 Label(s): MEHMO syndrome + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with peripheral neuropathy' + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_85281 Label(s): OBSOLETE: MECP2 duplication syndrome + 'OBSOLETE: MECP2 duplication syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Proximal Xq28 duplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35664 Label(s): ALDH18A1-related De Barsy syndrome + 'ALDH18A1-related De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'De Barsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2211 Label(s): Hypertelorism-hypospadias-polysyndactyly syndrome + 'Hypertelorism-hypospadias-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hypertelorism-hypospadias-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Hypertelorism-hypospadias-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2213 Label(s): Hypertelorism-microtia-facial clefting syndrome + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2215 Label(s): Multiple pterygium-malignant hyperthermia syndrome + 'Multiple pterygium-malignant hyperthermia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'Multiple pterygium-malignant hyperthermia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with malignant hyperthermia' + 'Multiple pterygium-malignant hyperthermia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' Class: http://www.orpha.net/ORDO/Orphanet_2218 Label(s): Cervical hypertrichosis-peripheral neuropathy syndrome + 'Cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a Dandy-Walker malformation as a major feature' + 'Cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' + 'Cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a Dandy-Walker malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2495 Label(s): Meningioma + 'Meningioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency of tumoral origin' + 'Meningioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of meninges' Class: http://www.orpha.net/ORDO/Orphanet_2496 Label(s): Mesomelia-synostoses syndrome + 'Mesomelia-synostoses syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromesomelic dysplasia' + 'Mesomelia-synostoses syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 8' Class: http://www.orpha.net/ORDO/Orphanet_597054 Label(s): centrosomal protein 72 - 'centrosomal protein 72' SubClassOf 'candidate gene tested in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'centrosomal protein 72' SubClassOf 'gene with protein product' - 'centrosomal protein 72' SubClassOf 'candidate gene tested in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'centrosomal protein 72' SubClassOf 'has_chromosomal location' value "5p15.33" Class: http://www.orpha.net/ORDO/Orphanet_2499 Label(s): Metachondromatosis + 'Metachondromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_600731 Label(s): Clark-Baraitser syndrome + 'Clark-Baraitser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Clark-Baraitser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Clark-Baraitser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85279 Label(s): KDM5C-related syndromic X-linked intellectual disability + 'KDM5C-related syndromic X-linked intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'KDM5C-related syndromic X-linked intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'KDM5C-related syndromic X-linked intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_443173 Label(s): Postpartum psychosis + 'Postpartum psychosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' + 'Postpartum psychosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_567552 Label(s): Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy + 'Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85274 Label(s): Syndromic X-linked intellectual disability 7 + 'Syndromic X-linked intellectual disability 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Syndromic X-linked intellectual disability 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85273 Label(s): X-linked intellectual disability, Abidi type + 'X-linked intellectual disability, Abidi type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Abidi type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2221 Label(s): Acquired hypertrichosis lanuginosa + 'Acquired hypertrichosis lanuginosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' Class: http://www.orpha.net/ORDO/Orphanet_227982 Label(s): Autoimmune polyendocrinopathy type 3 + 'Autoimmune polyendocrinopathy type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare adult hypothyroidism' + 'Autoimmune polyendocrinopathy type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare diabetes mellitus type 1' Class: http://www.orpha.net/ORDO/Orphanet_2224 Label(s): Hypertryptophanemia + 'Hypertryptophanemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of tryptophan metabolism' Class: http://www.orpha.net/ORDO/Orphanet_33475 Label(s): Meningococcal meningitis + 'Meningococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease of the nervous system' + 'Meningococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_51013 Label(s): OBSOLETE: Melanoma-pancreatic cancer syndrome + 'OBSOLETE: Melanoma-pancreatic cancer syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial atypical multiple mole melanoma syndrome' Class: http://www.orpha.net/ORDO/Orphanet_529799 Label(s): Acute bilirubin encephalopathy + 'Acute bilirubin encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bilirubin encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_52055 Label(s): Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome + 'Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with optic disc malformation' + 'Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' + 'Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_572773 Label(s): Microcephaly-short stature-limb abnormalities syndrome + 'Microcephaly-short stature-limb abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DONSON-related microcephaly-short stature-limb abnormalities spectrum' Class: http://www.orpha.net/ORDO/Orphanet_53351 Label(s): X-linked dystonia-parkinsonism + 'X-linked dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' + 'X-linked dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'X-linked dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_54057 Label(s): Thrombotic thrombocytopenic purpura + 'Thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thrombotic microangiopathy' + 'Thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to a platelet anomaly' Class: http://www.orpha.net/ORDO/Orphanet_443167 Label(s): NUT midline carcinoma + 'NUT midline carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor' Class: http://www.orpha.net/ORDO/Orphanet_404493 Label(s): Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_530849 Label(s): Familial apolipoprotein A5 deficiency + 'Familial apolipoprotein A5 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial chylomicronemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_57782 Label(s): Mazabraud syndrome + 'Mazabraud syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' + 'Mazabraud syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_2033 Label(s): OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome + 'OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_35686 Label(s): Serpiginous choroiditis + 'Serpiginous choroiditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-infectious posterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_35687 Label(s): Erdheim-Chester disease + 'Erdheim-Chester disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' + 'Erdheim-Chester disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Granulomatous autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35689 Label(s): Primary lateral sclerosis + 'Primary lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Primary lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Motor neuron disease' + 'Primary lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_2237 Label(s): Hypoparathyroidism-sensorineural deafness-renal disease syndrome + 'Hypoparathyroidism-sensorineural deafness-renal disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 10' + 'Hypoparathyroidism-sensorineural deafness-renal disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Hypoparathyroidism-sensorineural deafness-renal disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Hypoparathyroidism-sensorineural deafness-renal disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with hypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_572768 Label(s): Microcephaly-micromelia syndrome + 'Microcephaly-micromelia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DONSON-related microcephaly-short stature-limb abnormalities spectrum' Class: http://www.orpha.net/ORDO/Orphanet_331206 Label(s): Severe combined immunodeficiency due to complete RAG1/2 deficiency + 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B- severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_572761 Label(s): DONSON-related microcephaly-short stature-limb abnormalities spectrum + 'DONSON-related microcephaly-short stature-limb abnormalities spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + 'DONSON-related microcephaly-short stature-limb abnormalities spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'DONSON-related microcephaly-short stature-limb abnormalities spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'DONSON-related microcephaly-short stature-limb abnormalities spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_443159 Label(s): Lymphoplasmacytic lymphoma without IgM production + 'Lymphoplasmacytic lymphoma without IgM production' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Indolent B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_247827 Label(s): Ectodermal dysplasia-cutaneous syndactyly syndrome + 'Ectodermal dysplasia-cutaneous syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_324982 Label(s): OBSOLETE: Adult-onset SAPHO syndrome + 'OBSOLETE: Adult-onset SAPHO syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'SAPHO syndrome' Class: http://www.orpha.net/ORDO/Orphanet_530838 Label(s): KRT1-related diffuse nonepidermolytic keratoderma + 'KRT1-related diffuse nonepidermolytic keratoderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_247820 Label(s): Ectodermal dysplasia-syndactyly syndrome + 'Ectodermal dysplasia-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319504 Label(s): Combined oxidative phosphorylation defect type 8 + 'Combined oxidative phosphorylation defect type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_2241 Label(s): Megacystis-microcolon-intestinal hypoperistalsis syndrome + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2244 Label(s): Hypopituitarism-microphthalmia syndrome + 'Hypopituitarism-microphthalmia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_3199 Label(s): Stimmler syndrome + 'Stimmler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Stimmler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3198 Label(s): Stiff person spectrum disorder + 'Stiff person spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare movement disorder' + 'Stiff person spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuroinflammatory or neuroimmunological disease' + 'Stiff person spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_3197 Label(s): Hereditary hyperekplexia + 'Hereditary hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease involving other neurotransmitter deficiency' + 'Hereditary hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect' + 'Hereditary hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Hereditary hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic movement disorder' + 'Hereditary hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperekplexia' Class: http://www.orpha.net/ORDO/Orphanet_3196 Label(s): Steroid dehydrogenase deficiency-dental anomalies syndrome + 'Steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_3194 Label(s): Corneodermatoosseous syndrome + 'Corneodermatoosseous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Corneodermatoosseous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_3192 Label(s): Supravalvular pulmonary stenosis + 'Supravalvular pulmonary stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary valvar stenosis' Class: http://www.orpha.net/ORDO/Orphanet_3191 Label(s): Subaortic stenosis-short stature syndrome + 'Subaortic stenosis-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Subaortic stenosis-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Subaortic stenosis-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Subaortic stenosis-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Subaortic stenosis-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_3190 Label(s): Subpulmonary stenosis + 'Subpulmonary stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary valvar stenosis' Class: http://www.orpha.net/ORDO/Orphanet_247815 Label(s): Autosomal recessive ataxia due to PEX10 deficiency + 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive metabolic cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_60033 Label(s): Idiopathic bronchiectasis + 'Idiopathic bronchiectasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Idiopathic bronchiectasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_3189 Label(s): Congenital pulmonary valvar stenosis + 'Congenital pulmonary valvar stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary artery or pulmonary branch anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3188 Label(s): Congenital pulmonary veins atresia or stenosis + 'Congenital pulmonary veins atresia or stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Congenital pulmonary veins atresia or stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of the great arteries' + 'Congenital pulmonary veins atresia or stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for lung transplant' Class: http://www.orpha.net/ORDO/Orphanet_592850 Label(s): Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies + 'Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromyelitis optica spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_3184 Label(s): Steatocystoma multiplex-natal teeth syndrome + 'Steatocystoma multiplex-natal teeth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic sebaceous gland anomaly' + 'Steatocystoma multiplex-natal teeth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Steatocystoma multiplex-natal teeth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Steatocystoma multiplex-natal teeth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sebaceous gland anomaly' Class: http://www.orpha.net/ORDO/Orphanet_63442 Label(s): Angel-shaped phalango-epiphyseal dysplasia + 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_3181 Label(s): Sprengel deformity + 'Sprengel deformity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_64753 Label(s): Spinocerebellar ataxia with axonal neuropathy type 2 + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_65288 Label(s): Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome + 'Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_53296 Label(s): Familial cutaneous collagenoma + 'Familial cutaneous collagenoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dermis elastic tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_66518 Label(s): Short fifth metacarpals-insulin resistance syndrome + 'Short fifth metacarpals-insulin resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' Class: http://www.orpha.net/ORDO/Orphanet_67043 Label(s): Amoebic keratitis + 'Amoebic keratitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' + 'Amoebic keratitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infective keratitis' Class: http://www.orpha.net/ORDO/Orphanet_69735 Label(s): Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome + 'Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary lymphedema with systemic or visceral involvement' + 'Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_171607 Label(s): X-linked spastic paraplegia type 34 + 'X-linked spastic paraplegia type 34' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_51084 Label(s): Torsade-de-pointes syndrome with short coupling interval + 'Torsade-de-pointes syndrome with short coupling interval' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_51083 Label(s): Familial short QT syndrome + 'Familial short QT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_2266 Label(s): Hypotrichosis-intellectual disability, Lopes type + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3177 Label(s): Spinocerebellar degeneration-corneal dystrophy syndrome + 'Spinocerebellar degeneration-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spinocerebellar degeneration-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spinocerebellar degeneration-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' + 'Spinocerebellar degeneration-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_3176 Label(s): Spina bifida-hypospadias syndrome + 'Spina bifida-hypospadias syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Spina bifida-hypospadias syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_3175 Label(s): X-linked spasticity-intellectual disability-epilepsy syndrome + 'X-linked spasticity-intellectual disability-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'X-linked spasticity-intellectual disability-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ARX-related epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_3173 Label(s): Infantile spasms-broad thumbs syndrome + 'Infantile spasms-broad thumbs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' + 'Infantile spasms-broad thumbs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Infantile spasms-broad thumbs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_329457 Label(s): Distal arthrogryposis type 5D + 'Distal arthrogryposis type 5D' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_171617 Label(s): Autosomal dominant spastic paraplegia type 38 + 'Autosomal dominant spastic paraplegia type 38' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_2271 Label(s): Congenital ichthyosis-microcephalus-tetraplegia syndrome + 'Congenital ichthyosis-microcephalus-tetraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with prominent neurologic signs' Class: http://www.orpha.net/ORDO/Orphanet_2272 Label(s): Ichthyosis-oral and digital anomalies syndrome + 'Ichthyosis-oral and digital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Ichthyosis-oral and digital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ichthyosis-oral and digital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ichthyosis-oral and digital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' Class: http://www.orpha.net/ORDO/Orphanet_2273 Label(s): Ichthyosis follicularis-alopecia-photophobia syndrome + 'Ichthyosis follicularis-alopecia-photophobia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked ichthyosis syndrome' + 'Ichthyosis follicularis-alopecia-photophobia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Ichthyosis follicularis-alopecia-photophobia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Ichthyosis follicularis-alopecia-photophobia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' Class: http://www.orpha.net/ORDO/Orphanet_3169 Label(s): Sirenomelia + 'Sirenomelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Caudal regression-sirenomelia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_3168 Label(s): Sillence syndrome + 'Sillence syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_3167 Label(s): Siegler-Brewer-Carey syndrome + 'Siegler-Brewer-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Siegler-Brewer-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Siegler-Brewer-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Siegler-Brewer-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_3166 Label(s): Sialuria + 'Sialuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of sialic acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_3165 Label(s): Eosinophilic fasciitis + 'Eosinophilic fasciitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' + 'Eosinophilic fasciitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric systemic disease' + 'Eosinophilic fasciitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_592873 Label(s): Acute transverse myelitis with anti-MOG antibodies + 'Acute transverse myelitis with anti-MOG antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute transverse myelitis' Class: http://www.orpha.net/ORDO/Orphanet_3163 Label(s): SHORT syndrome + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hyperopia' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lipodystrophy' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_3162 Label(s): Sézary syndrome + 'Sézary syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive primary cutaneous T-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_3161 Label(s): Congenital pulmonary sequestration + 'Congenital pulmonary sequestration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital pulmonary sequestration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_101685 Label(s): Rare non-syndromic intellectual disability + 'Rare non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic intellectual disability' + 'Rare non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Rare non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_53271 Label(s): Muenke syndrome + 'Muenke syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Muenke syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Muenke syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_171622 Label(s): Autosomal recessive spastic paraplegia type 32 + 'Autosomal recessive spastic paraplegia type 32' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_319547 Label(s): Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2284 Label(s): OBSOLETE: Primary T cell immunodeficiency + 'OBSOLETE: Primary T cell immunodeficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary immunodeficiency due to a defect in adaptive immunity' Class: http://www.orpha.net/ORDO/Orphanet_213630 Label(s): Primitive neuroectodermal tumor of the corpus uteri + 'Primitive neuroectodermal tumor of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sarcoma of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_3156 Label(s): Senior-Loken syndrome + 'Senior-Loken syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Senior-Loken syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Senior-Loken syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Senior-Loken syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Senior-Loken syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in nephronophthisis gene' Class: http://www.orpha.net/ORDO/Orphanet_73273 Label(s): Growth delay due to insulin-like growth factor I resistance + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Growth hormone insensitivity syndrome' Class: http://www.orpha.net/ORDO/Orphanet_592885 Label(s): Isolated optic neuritis without anti-MOG antibodies + 'Isolated optic neuritis without anti-MOG antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated optic neuritis' Class: http://www.orpha.net/ORDO/Orphanet_75501 Label(s): OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type + 'OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Classical Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_329475 Label(s): Spastic paraplegia-Paget disease of bone syndrome + 'Spastic paraplegia-Paget disease of bone syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' + 'Spastic paraplegia-Paget disease of bone syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' + 'Spastic paraplegia-Paget disease of bone syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_251646 Label(s): Anaplastic ependymoma + 'Anaplastic ependymoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ependymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_443101 Label(s): Hypothalamic adipsic hypernatraemia syndrome + 'Hypothalamic adipsic hypernatraemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' + 'Hypothalamic adipsic hypernatraemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypothalamic or pituitary disease' Class: http://www.orpha.net/ORDO/Orphanet_85202 Label(s): Keutel syndrome + 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chondrodysplasia punctata' + 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85201 Label(s): Genitopatellar syndrome + 'Genitopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'KAT6B-related multiple congenital anomalies syndrome' Class: http://www.orpha.net/ORDO/Orphanet_213625 Label(s): Leiomyosarcoma of the corpus uteri + 'Leiomyosarcoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sarcoma of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_2291 Label(s): Congenital velopharyngeal incompetence + 'Congenital velopharyngeal incompetence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' + 'Congenital velopharyngeal incompetence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_352540 Label(s): Oncogenic osteomalacia + 'Oncogenic osteomalacia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Oncogenic osteomalacia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Oncogenic osteomalacia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' + 'Oncogenic osteomalacia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone disease' Class: http://www.orpha.net/ORDO/Orphanet_3148 Label(s): Malignant peripheral nerve sheath tumor + 'Malignant peripheral nerve sheath tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of cranial and spinal nerves' + 'Malignant peripheral nerve sheath tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_2297 Label(s): Insulin-resistance syndrome type A + 'Insulin-resistance syndrome type A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function' + 'Insulin-resistance syndrome type A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Insulin-resistance syndrome type A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2298 Label(s): Insulin-resistance syndrome type B + 'Insulin-resistance syndrome type B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3144 Label(s): Schneckenbecken dysplasia + 'Schneckenbecken dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' + 'Schneckenbecken dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' + 'Schneckenbecken dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_3143 Label(s): Autoimmune polyendocrinopathy type 2 + 'Autoimmune polyendocrinopathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired premature ovarian failure' + 'Autoimmune polyendocrinopathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function' + 'Autoimmune polyendocrinopathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired chronic primary adrenal insufficiency' + 'Autoimmune polyendocrinopathy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune polyendocrinopathy' Class: http://www.orpha.net/ORDO/Orphanet_319563 Label(s): Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency + 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' + 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' Class: http://www.orpha.net/ORDO/Orphanet_213615 Label(s): Rhabdomyosarcoma of the corpus uteri + 'Rhabdomyosarcoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sarcoma of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_457485 Label(s): Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome + 'Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_213610 Label(s): Carcinosarcoma of the corpus uteri + 'Carcinosarcoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant mixed epithelial and mesenchymal tumor of corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_3138 Label(s): Ulnar-mammary syndrome + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Deficient breast volume or number' + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_3135 Label(s): Familial Scheuermann disease - 'Familial Scheuermann disease' SubClassOf 'disorder' - 'Familial Scheuermann disease' SubClassOf 'malformation syndrome' + 'Familial Scheuermann disease' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_3134 Label(s): SCARF syndrome + 'SCARF syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SCARF syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'SCARF syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutis laxa' + 'SCARF syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_289601 Label(s): Hereditary arterial and articular multiple calcification syndrome + 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_3132 Label(s): Say-Barber-Miller syndrome + 'Say-Barber-Miller syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Say-Barber-Miller syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Say-Barber-Miller syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3130 Label(s): Satoyoshi syndrome + 'Satoyoshi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Satoyoshi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Satoyoshi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' + 'Satoyoshi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_141258 Label(s): Tessier number 4 facial cleft + 'Tessier number 4 facial cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic facial cleft' + 'Tessier number 4 facial cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oblique facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_319574 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' Class: http://www.orpha.net/ORDO/Orphanet_213600 Label(s): Adenosarcoma of the corpus uteri + 'Adenosarcoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant mixed epithelial and mesenchymal tumor of corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_83465 Label(s): Narcolepsy type 2 + 'Narcolepsy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Narcolepsy' Class: http://www.orpha.net/ORDO/Orphanet_84085 Label(s): Hinman syndrome + 'Hinman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urogenital disease' Class: http://www.orpha.net/ORDO/Orphanet_86885 Label(s): Primary cutaneous peripheral T-cell lymphoma not otherwise specified + 'Primary cutaneous peripheral T-cell lymphoma not otherwise specified' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive primary cutaneous T-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_85194 Label(s): Spondylo-ocular syndrome + 'Spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microspherophakia' + 'Spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'Spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic vitreoretinopathy' + 'Spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_3123 Label(s): Brittle hair syndrome, Sabinas type + 'Brittle hair syndrome, Sabinas type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_85318 Label(s): OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome + 'OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3121 Label(s): Ruvalcaba syndrome + 'Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_86902 Label(s): Follicular dendritic cell sarcoma + 'Follicular dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' + 'Follicular dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr Virus-associated mesenchymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_227990 Label(s): Autoimmune polyendocrinopathy type 4 + 'Autoimmune polyendocrinopathy type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune polyendocrinopathy' Class: http://www.orpha.net/ORDO/Orphanet_97368 Label(s): Drug-related renal tubular dysgenesis + 'Drug-related renal tubular dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal tubular dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_97366 Label(s): Multiloculated renal cyst + 'Multiloculated renal cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tumor' + 'Multiloculated renal cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_88917 Label(s): X-linked Alport syndrome + 'X-linked Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alport syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97362 Label(s): Renal hypoplasia, bilateral + 'Renal hypoplasia, bilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_97361 Label(s): Renal hypoplasia, unilateral + 'Renal hypoplasia, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_89839 Label(s): OBSOLETE: Epidermolysis bullosa simplex superficialis + 'OBSOLETE: Epidermolysis bullosa simplex superficialis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Epidermolysis bullosa simplex' Class: http://www.orpha.net/ORDO/Orphanet_497188 Label(s): Diffuse intrinsic pontine glioma + 'Diffuse intrinsic pontine glioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'High-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_319581 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' Class: http://www.orpha.net/ORDO/Orphanet_95159 Label(s): Hepatoerythropoietic porphyria + 'Hepatoerythropoietic porphyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic hepatic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_496 Label(s): Thost-Unna palmoplantar keratoderma + 'Thost-Unna palmoplantar keratoderma' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Epidermolytic palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_263297 Label(s): Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency + 'Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' + 'Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_494 Label(s): Keratoderma hereditarium mutilans + 'Keratoderma hereditarium mutilans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' + 'Keratoderma hereditarium mutilans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_493 Label(s): Familial keratoacanthoma + 'Familial keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Familial keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_492 Label(s): Proliferating trichilemmal cyst + 'Proliferating trichilemmal cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_3118 Label(s): Rudiger syndrome + 'Rudiger syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Schinzel-Giedion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295239 Label(s): Macrodactyly of fingers, unilateral + 'Macrodactyly of fingers, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Macrodactyly of fingers' + 'Macrodactyly of fingers, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PIK3CA-related overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3115 Label(s): Roussy-Lévy syndrome + 'Roussy-Lévy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_295234 Label(s): OBSOLETE: Congenital patella dislocation, unilateral + 'OBSOLETE: Congenital patella dislocation, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital patella dislocation' Class: http://www.orpha.net/ORDO/Orphanet_3111 Label(s): Rotor syndrome + 'Rotor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Rotor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of bilirubin metabolism and excretion' Class: http://www.orpha.net/ORDO/Orphanet_295232 Label(s): Congenital genu flexum + 'Congenital genu flexum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital knee dislocation' Class: http://www.orpha.net/ORDO/Orphanet_141261 Label(s): Tessier number 5 facial cleft + 'Tessier number 5 facial cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oblique facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_97355 Label(s): Caribbean parkinsonism + 'Caribbean parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare dementia' + 'Caribbean parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_231580 Label(s): Primary unilateral adrenal hyperplasia + 'Primary unilateral adrenal hyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare surgically correctable form of primary aldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_488 Label(s): Urachal cyst + 'Urachal cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital urachal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_487 Label(s): Krabbe disease + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis with epilepsy' + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis' + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_486 Label(s): Autosomal dominant severe congenital neutropenia + 'Autosomal dominant severe congenital neutropenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_485 Label(s): Kniest dysplasia + 'Kniest dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Kniest dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Kniest dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with collagen disease' Class: http://www.orpha.net/ORDO/Orphanet_483 Label(s): Congenital high-molecular-weight kininogen deficiency + 'Congenital high-molecular-weight kininogen deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_482 Label(s): Kimura disease + 'Kimura disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_481 Label(s): Kennedy disease + 'Kennedy disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to testicular endocrine disorder' + 'Kennedy disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Kennedy disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bulbospinal muscular atrophy of adult' + 'Kennedy disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_295229 Label(s): Congenital genu recurvatum + 'Congenital genu recurvatum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital knee dislocation' Class: http://www.orpha.net/ORDO/Orphanet_508 Label(s): Leprechaunism + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' + 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3104 Label(s): Robin sequence-oligodactyly syndrome + 'Robin sequence-oligodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295225 Label(s): Congenital elbow dislocation, unilateral + 'Congenital elbow dislocation, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated congenital radial head dislocation' Class: http://www.orpha.net/ORDO/Orphanet_3102 Label(s): Richieri Costa-Pereira syndrome + 'Richieri Costa-Pereira syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Richieri Costa-Pereira syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Richieri Costa-Pereira syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Richieri Costa-Pereira syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_295223 Label(s): OBSOLETE: Madelung deformity, bilateral + 'OBSOLETE: Madelung deformity, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Léri-Weill dyschondrosteosis' Class: http://www.orpha.net/ORDO/Orphanet_295221 Label(s): OBSOLETE: Madelung deformity, unilateral + 'OBSOLETE: Madelung deformity, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Léri-Weill dyschondrosteosis' Class: http://www.orpha.net/ORDO/Orphanet_97337 Label(s): Sinding-Larsen-Johansson disease + 'Sinding-Larsen-Johansson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_97346 Label(s): ADan amyloidosis + 'ADan amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ITM2B amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_97339 Label(s): Dural sinus malformation + 'Dural sinus malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Dural sinus malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_97342 Label(s): OBSOLETE: Argyrophilic grain disease + 'OBSOLETE: Argyrophilic grain disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_97341 Label(s): Persistent placoid maculopathy + 'Persistent placoid maculopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic macular disorder' + 'Persistent placoid maculopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_90103 Label(s): Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome + 'Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' + 'Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_622934 Label(s): SBDS-related severe neonatal spondylometaphyseal dysplasia + 'SBDS-related severe neonatal spondylometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_90790 Label(s): Congenital lipoid adrenal hyperplasia due to STAR deficency + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital adrenal hyperplasia' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to adrenal disorder of genetic origin' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an adrenal disorder' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' Class: http://www.orpha.net/ORDO/Orphanet_91135 Label(s): Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency + 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dermis elastic tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_478 Label(s): Kallmann syndrome + 'Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_477 Label(s): KID syndrome + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory/autoimmune corneal disorder' + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'KID syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic inflammatory/autoimmune corneal disorder' Class: http://www.orpha.net/ORDO/Orphanet_319192 Label(s): Diencephalic-mesencephalic junction dysplasia + 'Diencephalic-mesencephalic junction dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebral malformation' + 'Diencephalic-mesencephalic junction dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_475 Label(s): Joubert syndrome + 'Joubert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Joubert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Joubert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joubert syndrome and related disorders' + 'Joubert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the cerebellar vermis' + 'Joubert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebellar malformation' Class: http://www.orpha.net/ORDO/Orphanet_93607 Label(s): Autosomal recessive proximal renal tubular acidosis + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Proximal renal tubular acidosis' + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_472 Label(s): Isosporiasis + 'Isosporiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_295219 Label(s): Radio-ulnar synostosis, bilateral + 'Radio-ulnar synostosis, bilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital radioulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_97338 Label(s): Melanoma of soft tissue + 'Melanoma of soft tissue' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_295215 Label(s): Humero-ulnar synostosis, bilateral + 'Humero-ulnar synostosis, bilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Humero-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_295213 Label(s): Humero-ulnar synostosis, unilateral + 'Humero-ulnar synostosis, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Humero-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_295211 Label(s): OBSOLETE: Humero-radial synostosis, bilateral + 'OBSOLETE: Humero-radial synostosis, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humero-radial synostosis' Class: http://www.orpha.net/ORDO/Orphanet_97336 Label(s): Panner disease + 'Panner disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_97335 Label(s): Osgood-Schlatter disease + 'Osgood-Schlatter disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_99825 Label(s): Nipah virus disease + 'Nipah virus disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_97332 Label(s): Kienbock disease + 'Kienbock disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_97330 Label(s): Thoracic outlet syndrome + 'Thoracic outlet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare surgical thoracic disease' Class: http://www.orpha.net/ORDO/Orphanet_85212 Label(s): Fetal Gaucher disease + 'Fetal Gaucher disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with fatal disease course' + 'Fetal Gaucher disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gaucher disease' Class: http://www.orpha.net/ORDO/Orphanet_469 Label(s): Hereditary fructose intolerance + 'Hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of fructose metabolism' + 'Hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of carbohydrate absorption and transport' + 'Hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital intestinal transport defect' Class: http://www.orpha.net/ORDO/Orphanet_466 Label(s): Fatal familial insomnia + 'Fatal familial insomnia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited human prion disease' Class: http://www.orpha.net/ORDO/Orphanet_465 Label(s): Congenital plasminogen activator inhibitor type 1 deficiency + 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serpinopathy with toxic serpin polymerization' + 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_464 Label(s): Incontinentia pigmenti + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurocutaneous syndrome with epilepsy' + 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_461 Label(s): Recessive X-linked ichthyosis + 'Recessive X-linked ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' + 'Recessive X-linked ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited non-syndromic ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_295209 Label(s): OBSOLETE: Humero-radial synostosis, unilateral + 'OBSOLETE: Humero-radial synostosis, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humero-radial synostosis' Class: http://www.orpha.net/ORDO/Orphanet_217382 Label(s): Neurodegenerative syndrome due to cerebral folate transport deficiency + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with epilepsy' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of folate metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_97345 Label(s): ABri amyloidosis + 'ABri amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ITM2B amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_295203 Label(s): Congenital vertical talus, bilateral + 'Congenital vertical talus, bilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital vertical talus' Class: http://www.orpha.net/ORDO/Orphanet_295201 Label(s): Congenital vertical talus, unilateral + 'Congenital vertical talus, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital vertical talus' Class: http://www.orpha.net/ORDO/Orphanet_138066 Label(s): OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies + 'OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disease with Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141327 Label(s): Orofaciodigital syndrome type 12 + 'Orofaciodigital syndrome type 12' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_138063 Label(s): OBSOLETE: Syndrome associated with Pierre Robin syndrome + 'OBSOLETE: Syndrome associated with Pierre Robin syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disease with Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2566 Label(s): Chronic Epstein-Barr virus infection syndrome + 'Chronic Epstein-Barr virus infection syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_284414 Label(s): Glycerol kinase deficiency, adult form + 'Glycerol kinase deficiency, adult form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated glycerol kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_97340 Label(s): Hunter-McAlpine syndrome + 'Hunter-McAlpine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_457 Label(s): Harlequin ichthyosis + 'Harlequin ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_617449 Label(s): Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome + 'Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder involving multiple structures of the eye' + 'Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder involving multiple structures of the eye' Class: http://www.orpha.net/ORDO/Orphanet_455 Label(s): Superficial epidermolytic ichthyosis + 'Superficial epidermolytic ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Keratinopathic ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_454 Label(s): Acquired ichthyosis + 'Acquired ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_453 Label(s): IBIDS syndrome + 'IBIDS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_452 Label(s): X-linked lissencephaly with abnormal genitalia + 'X-linked lissencephaly with abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with lissencephaly as a major feature' + 'X-linked lissencephaly with abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ARX-related encephalopathy-brain malformation spectrum' + 'X-linked lissencephaly with abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_423275 Label(s): Spinocerebellar ataxia type 40 + 'Spinocerebellar ataxia type 40' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_97353 Label(s): Dementia pugilistica + 'Dementia pugilistica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare dementia' Class: http://www.orpha.net/ORDO/Orphanet_617440 Label(s): Painful legs and moving toes syndrome + 'Painful legs and moving toes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_97349 Label(s): Postencephalitic parkinsonism + 'Postencephalitic parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with dementia' + 'Postencephalitic parkinsonism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_476093 Label(s): Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome + 'Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal hereditary motor neuropathy' + 'Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_476096 Label(s): Erythrokeratodermia-cardiomyopathy syndrome + 'Erythrokeratodermia-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Erythrokeratoderma' + 'Erythrokeratodermia-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic erythrokeratoderma' + 'Erythrokeratodermia-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontologic disease' + 'Erythrokeratodermia-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Erythrokeratodermia-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_449 Label(s): Hepatoblastoma + 'Hepatoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_447 Label(s): Paroxysmal nocturnal hemoglobinuria + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare acquired hemolytic anemia' + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare acquired aplastic anemia' + 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic hematologic disease' Class: http://www.orpha.net/ORDO/Orphanet_446 Label(s): Neonatal hemochromatosis + 'Neonatal hemochromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of iron metabolism and transport' + 'Neonatal hemochromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Neonatal hemochromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_441 Label(s): Pure autonomic failure + 'Pure autonomic failure' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary orthostatic hypotension' + 'Pure autonomic failure' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare autonomic nervous system disorder' Class: http://www.orpha.net/ORDO/Orphanet_440 Label(s): OBSOLETE: Familial hypospadias + 'OBSOLETE: Familial hypospadias' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic posterior hypospadias' Class: http://www.orpha.net/ORDO/Orphanet_97363 Label(s): Unilateral multicystic dysplastic kidney + 'Unilateral multicystic dysplastic kidney' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multicystic dysplastic kidney' Class: http://www.orpha.net/ORDO/Orphanet_97364 Label(s): Bilateral multicystic dysplastic kidney + 'Bilateral multicystic dysplastic kidney' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multicystic dysplastic kidney' Class: http://www.orpha.net/ORDO/Orphanet_97367 Label(s): Renal tubular dysgenesis due to twin-twin transfusion + 'Renal tubular dysgenesis due to twin-twin transfusion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal tubular dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_124154 Label(s): platelet derived growth factor receptor alpha + 'platelet derived growth factor receptor alpha' SubClassOf 'major susceptibility factor in' some 'Cleft lip/palate' Class: http://www.orpha.net/ORDO/Orphanet_309271 Label(s): Metachromatic leukodystrophy, adult form + 'Metachromatic leukodystrophy, adult form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metachromatic leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_439 Label(s): Isolated right ventricular hypoplasia + 'Isolated right ventricular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypoplastic right heart syndrome' Class: http://www.orpha.net/ORDO/Orphanet_457406 Label(s): Multiple mitochondrial dysfunctions syndrome type 4 + 'Multiple mitochondrial dysfunctions syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Multiple mitochondrial dysfunctions syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Multiple mitochondrial dysfunctions syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Multiple mitochondrial dysfunctions syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple mitochondrial dysfunctions syndrome' + 'Multiple mitochondrial dysfunctions syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_435 Label(s): OBSOLETE: Ito hypomelanosis + 'OBSOLETE: Ito hypomelanosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hypopigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_432 Label(s): Normosmic congenital hypogonadotropic hypogonadism + 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_431 Label(s): Ichthyosis-male hypogonadism syndrome + 'Ichthyosis-male hypogonadism syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Xp22.3 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_430 Label(s): OBSOLETE: Hypodermyiasis + 'OBSOLETE: Hypodermyiasis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Creeping myiasis' Class: http://www.orpha.net/ORDO/Orphanet_307936 Label(s): Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome + 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_75326 Label(s): Retinal arterial tortuosity + 'Retinal arterial tortuosity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy' Class: http://www.orpha.net/ORDO/Orphanet_85200 Label(s): Ischiovertebral syndrome + 'Ischiovertebral syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_592574 Label(s): Menke-Hennekam syndrome + 'Menke-Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Menke-Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Menke-Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Menke-Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Menke-Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_428 Label(s): Autosomal dominant hypocalcemia + 'Autosomal dominant hypocalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Autosomal dominant hypocalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial isolated hypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_427 Label(s): Familial hypoaldosteronism + 'Familial hypoaldosteronism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypoaldosteronism' + 'Familial hypoaldosteronism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic adrenal disease' Class: http://www.orpha.net/ORDO/Orphanet_425 Label(s): Apolipoprotein A-I deficiency + 'Apolipoprotein A-I deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypoalphalipoproteinemia' Class: http://www.orpha.net/ORDO/Orphanet_424 Label(s): Familial hyperthyroidism due to mutations in TSH receptor + 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hyperthyroidism' + 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cause of hypertension' Class: http://www.orpha.net/ORDO/Orphanet_423 Label(s): Malignant hyperthermia of anesthesia + 'Malignant hyperthermia of anesthesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with malignant hyperthermia' + 'Malignant hyperthermia of anesthesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic ryanodine receptor defect' Class: http://www.orpha.net/ORDO/Orphanet_422 Label(s): Idiopathic/heritable pulmonary arterial hypertension + 'Idiopathic/heritable pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Idiopathic/heritable pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary arterial hypertension' Class: http://www.orpha.net/ORDO/Orphanet_402035 Label(s): Eosinophilic colitis + 'Eosinophilic colitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary eosinophilic gastrointestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_102379 Label(s): Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent + 'Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97352 Label(s): Pellagra + 'Pellagra' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_592564 Label(s): GNAO1-related developmental delay-seizures-movement disorder spectrum + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic hyperkinetic movement disorder' + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hyperkinetic movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_97360 Label(s): Robinow syndrome + 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_417 Label(s): Neonatal severe primary hyperparathyroidism + 'Neonatal severe primary hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hyperparathyroidism' + 'Neonatal severe primary hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with defective bone mineralization' + 'Neonatal severe primary hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_416 Label(s): Primary hyperoxaluria + 'Primary hyperoxaluria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Primary hyperoxaluria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glyoxylate metabolism' + 'Primary hyperoxaluria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_415 Label(s): Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome + 'Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of urea cycle metabolism and ammonia detoxification' Class: http://www.orpha.net/ORDO/Orphanet_414 Label(s): Gyrate atrophy of choroid and retina + 'Gyrate atrophy of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Gyrate atrophy of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of ornithine metabolism' + 'Gyrate atrophy of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_412 Label(s): Dysbetalipoproteinemia + 'Dysbetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hyperlipidemia' Class: http://www.orpha.net/ORDO/Orphanet_411 Label(s): Hyperlipoproteinemia type 1 + 'Hyperlipoproteinemia type 1' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Familial chylomicronemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_102381 Label(s): Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor + 'Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97369 Label(s): Renal tubular dysgenesis of genetic origin + 'Renal tubular dysgenesis of genetic origin' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal tubular dysgenesis' + 'Renal tubular dysgenesis of genetic origin' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_69744 Label(s): Circumscribed palmoplantar hypokeratosis + 'Circumscribed palmoplantar hypokeratosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_64694 Label(s): Trench fever + 'Trench fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_94063 Label(s): 12q14 microdeletion syndrome + '12q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' + '12q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '12q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 12' + '12q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_91481 Label(s): Ring dermoid of cornea + 'Ring dermoid of cornea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic eye tumor' + 'Ring dermoid of cornea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_595105 Label(s): Timothy syndrome type 2 + 'Timothy syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Timothy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_409 Label(s): Hyperkeratosis lenticularis perstans + 'Hyperkeratosis lenticularis perstans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Hyperkeratosis lenticularis perstans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' Class: http://www.orpha.net/ORDO/Orphanet_408 Label(s): Isolated glycerol kinase deficiency + 'Isolated glycerol kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycerol kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_407 Label(s): Glycine encephalopathy + 'Glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' + 'Glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of serine or glycine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_405 Label(s): Familial hypocalciuric hypercalcemia + 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' + 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' + 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' + 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with defective bone mineralization' Class: http://www.orpha.net/ORDO/Orphanet_404 Label(s): Familial hyperaldosteronism type II + 'Familial hyperaldosteronism type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neuroendocrine tumor' + 'Familial hyperaldosteronism type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal/paraganglial tumor' + 'Familial hyperaldosteronism type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial hyperaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_403 Label(s): Familial hyperaldosteronism type I + 'Familial hyperaldosteronism type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial hyperaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_401 Label(s): Hymenolepiasis + 'Hymenolepiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_400 Label(s): Cystic echinococcosis + 'Cystic echinococcosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_2582 Label(s): Myalgia-eosinophilia syndrome associated with tryptophan + 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_85203 Label(s): Acropectoral syndrome + 'Acropectoral syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_69739 Label(s): Athabaskan brainstem dysgenesis syndrome + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neurological disorder' + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_69737 Label(s): Bosley-Salih-Alorainy syndrome + 'Bosley-Salih-Alorainy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bosley-Salih-Alorainy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Bosley-Salih-Alorainy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Bosley-Salih-Alorainy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_69736 Label(s): Bilateral acute depigmentation of the iris + 'Bilateral acute depigmentation of the iris' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental anomaly without extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_280854 Label(s): Congenital pulmonary airway malformation type 4 + 'Congenital pulmonary airway malformation type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary airway malformation' Class: http://www.orpha.net/ORDO/Orphanet_91489 Label(s): Isolated congenital megalocornea + 'Isolated congenital megalocornea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Corneodysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_300849 Label(s): Diffuse large B-cell lymphoma of the central nervous system + 'Diffuse large B-cell lymphoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_85280 Label(s): X-linked intellectual disability-cubitus valgus-dysmorphism syndrome + 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85284 Label(s): BRESEK syndrome + 'BRESEK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'BRESEK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85285 Label(s): X-linked intellectual disability, Schimke type + 'X-linked intellectual disability, Schimke type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Schimke type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85286 Label(s): X-linked intellectual disability, Shashi type + 'X-linked intellectual disability, Shashi type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Shashi type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85288 Label(s): X-linked intellectual disability, Stocco Dos Santos type + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85289 Label(s): X-linked intellectual disability, Vitale type + 'X-linked intellectual disability, Vitale type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'X-linked intellectual disability, Cabezas type' Class: http://www.orpha.net/ORDO/Orphanet_280811 Label(s): Extralobar congenital pulmonary sequestration + 'Extralobar congenital pulmonary sequestration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary sequestration' Class: http://www.orpha.net/ORDO/Orphanet_280847 Label(s): Congenital pulmonary airway malformation type 3 + 'Congenital pulmonary airway malformation type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary airway malformation' Class: http://www.orpha.net/ORDO/Orphanet_157855 Label(s): HARP syndrome + 'HARP syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Classic pantothenate kinase-associated neurodegeneration' Class: http://www.orpha.net/ORDO/Orphanet_69723 Label(s): Tyrosinemia type 3 + 'Tyrosinemia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of tyrosine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_157850 Label(s): Pantothenate kinase-associated neurodegeneration + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroacanthocytosis' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegeneration with brain iron accumulation' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_280840 Label(s): Congenital pulmonary airway malformation type 2 + 'Congenital pulmonary airway malformation type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary airway malformation' Class: http://www.orpha.net/ORDO/Orphanet_231249 Label(s): Hemoglobin E-beta-thalassemia syndrome + 'Hemoglobin E-beta-thalassemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beta-thalassemia associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85291 Label(s): X-linked intellectual disability, Wittwer type + 'X-linked intellectual disability, Wittwer type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Wolf-Hirschhorn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85295 Label(s): HSD10 disease, atypical type + 'HSD10 disease, atypical type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'HSD10 disease' Class: http://www.orpha.net/ORDO/Orphanet_231242 Label(s): Hemoglobin C-beta-thalassemia syndrome + 'Hemoglobin C-beta-thalassemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beta-thalassemia associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_589608 Label(s): Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies + 'Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypopigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_596941 Label(s): Incomplete septal cirrhosis + 'Incomplete septal cirrhosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Portosinusoidal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_33364 Label(s): Trichothiodystrophy + 'Trichothiodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Trichothiodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to sperm disorder' + 'Trichothiodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Trichothiodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Trichothiodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hair shaft abnormality' + 'Trichothiodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Trichothiodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' Class: http://www.orpha.net/ORDO/Orphanet_157846 Label(s): Neuroferritinopathy + 'Neuroferritinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegeneration with brain iron accumulation' + 'Neuroferritinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of iron metabolism and transport' + 'Neuroferritinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Huntington disease-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_300865 Label(s): Primary cutaneous anaplastic large cell lymphoma + 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_300869 Label(s): Splenic diffuse red pulp small B-cell lymphoma + 'Splenic diffuse red pulp small B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marginal zone lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_31150 Label(s): Tangier disease + 'Tangier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Tangier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary systemic disease with peripheral neuropathy' + 'Tangier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypoalphalipoproteinemia' + 'Tangier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_231237 Label(s): Delta-beta-thalassemia + 'Delta-beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beta-thalassemia associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_596937 Label(s): Portosinusoidal vascular disease + 'Portosinusoidal vascular disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular liver disease' Class: http://www.orpha.net/ORDO/Orphanet_435387 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2Y + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Y' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_589618 Label(s): Dystonia 28 + 'Dystonia 28' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' + 'Dystonia 28' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_33355 Label(s): Reticular dysgenesis + 'Reticular dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B- severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_247846 Label(s): OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies + 'OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Oligoarticular juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_275523 Label(s): Dianzani autoimmune lymphoproliferative disease + 'Dianzani autoimmune lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_126 Label(s): Blepharophimosis-ptosis-epicanthus inversus syndrome + 'Blepharophimosis-ptosis-epicanthus inversus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Blepharophimosis-ptosis-epicanthus inversus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic telecanthus' Class: http://www.orpha.net/ORDO/Orphanet_280827 Label(s): Congenital pulmonary airway malformation type 0 + 'Congenital pulmonary airway malformation type 0' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary airway malformation' Class: http://www.orpha.net/ORDO/Orphanet_157835 Label(s): Paroxysmal hemicrania + 'Paroxysmal hemicrania' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Trigeminal autonomic cephalalgia' Class: http://www.orpha.net/ORDO/Orphanet_157832 Label(s): Craniorhiny + 'Craniorhiny' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' + 'Craniorhiny' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_280821 Label(s): Communicating congenital bronchopulmonary-foregut malformation + 'Communicating congenital bronchopulmonary-foregut malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary sequestration' Class: http://www.orpha.net/ORDO/Orphanet_410025 Label(s): Brunei Darussalam - 'Brunei Darussalam' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_31142 Label(s): Oral erosive lichen + 'Oral erosive lichen' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_63260 Label(s): Craniorachischisis + 'Craniorachischisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neural tube closure defect' Class: http://www.orpha.net/ORDO/Orphanet_231222 Label(s): Beta-thalassemia intermedia + 'Beta-thalassemia intermedia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beta-thalassemia' Class: http://www.orpha.net/ORDO/Orphanet_280832 Label(s): Congenital pulmonary airway malformation type 1 + 'Congenital pulmonary airway malformation type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary airway malformation' Class: http://www.orpha.net/ORDO/Orphanet_357001 Label(s): 19p13.13 microdeletion syndrome + '19p13.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 19' + '19p13.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '19p13.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_157826 Label(s): Congenital epulis + 'Congenital epulis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_480556 Label(s): Isolated neonatal sclerosing cholangitis + 'Isolated neonatal sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sclerosing cholangitis' + 'Isolated neonatal sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_157823 Label(s): Klüver-Bucy syndrome + 'Klüver-Bucy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' + 'Klüver-Bucy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_480553 Label(s): Aneurysmal bone cyst + 'Aneurysmal bone cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_157820 Label(s): Cold-induced sweating syndrome + 'Cold-induced sweating syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cold-induced sweating syndrome-hyperthermia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_437572 Label(s): MYH7-related late-onset scapuloperoneal muscular dystrophy + 'MYH7-related late-onset scapuloperoneal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' + 'MYH7-related late-onset scapuloperoneal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late-onset scapuloperoneal muscular dystrophy with hyaline bodies' Class: http://www.orpha.net/ORDO/Orphanet_410036 Label(s): Chile - 'Chile' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_404514 Label(s): Acquired cystic disease-associated renal cell carcinoma + 'Acquired cystic disease-associated renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_231214 Label(s): Beta-thalassemia major + 'Beta-thalassemia major' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beta-thalassemia' Class: http://www.orpha.net/ORDO/Orphanet_37748 Label(s): Schnitzler syndrome + 'Schnitzler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unexplained periodic fever syndrome' Class: http://www.orpha.net/ORDO/Orphanet_247861 Label(s): OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies + 'OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_410187 Label(s): Senegal - 'Senegal' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_280802 Label(s): Intralobar congenital pulmonary sequestration + 'Intralobar congenital pulmonary sequestration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary sequestration' Class: http://www.orpha.net/ORDO/Orphanet_404521 Label(s): Spinal muscular atrophy with respiratory distress type 2 + 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_480541 Label(s): High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement + 'High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_79665 Label(s): Gardner syndrome + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial adenomatous polyposis' + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' + 'Gardner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_35710 Label(s): Glucose-galactose malabsorption + 'Glucose-galactose malabsorption' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glucose transport disorder' + 'Glucose-galactose malabsorption' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital intestinal transport defect' Class: http://www.orpha.net/ORDO/Orphanet_231205 Label(s): OBSOLETE: Common variable immunodeficiency without known genetic defect + 'OBSOLETE: Common variable immunodeficiency without known genetic defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_178311 Label(s): Isolated sternocostoclavicular hyperostosis + 'Isolated sternocostoclavicular hyperostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_157808 Label(s): Congenital pseudoarthrosis of the limbs + 'Congenital pseudoarthrosis of the limbs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic limb malformation' + 'Congenital pseudoarthrosis of the limbs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with limb anomaly as a major feature' + 'Congenital pseudoarthrosis of the limbs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis of genetic origin with limb anomaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_90695 Label(s): Non-acquired panhypopituitarism + 'Non-acquired panhypopituitarism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations' + 'Non-acquired panhypopituitarism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_75249 Label(s): Familial isolated restrictive cardiomyopathy + 'Familial isolated restrictive cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for heart transplant' + 'Familial isolated restrictive cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_480536 Label(s): MSH3-related attenuated familial adenomatous polyposis + 'MSH3-related attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Attenuated familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_157801 Label(s): Mesoaxial synostotic syndactyly with phalangeal reduction + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_480531 Label(s): Congenital portosystemic shunt + 'Congenital portosystemic shunt' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Congenital portosystemic shunt' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular liver disease' + 'Congenital portosystemic shunt' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital systemic veins anomaly' Class: http://www.orpha.net/ORDO/Orphanet_31112 Label(s): Dermatofibrosarcoma protuberans + 'Dermatofibrosarcoma protuberans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Dermatofibrosarcoma protuberans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' + 'Dermatofibrosarcoma protuberans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic soft tissue tumor' + 'Dermatofibrosarcoma protuberans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_247794 Label(s): Juvenile cataract-microcornea-renal glucosuria syndrome + 'Juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of carbohydrate absorption and transport' + 'Juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_79651 Label(s): Mild hyperphenylalaninemia + 'Mild hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Phenylketonuria' Class: http://www.orpha.net/ORDO/Orphanet_178320 Label(s): Acute lung injury + 'Acute lung injury' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_247790 Label(s): FTH1-related iron overload + 'FTH1-related iron overload' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of iron metabolism and transport' + 'FTH1-related iron overload' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_57777 Label(s): Cirrhotic cardiomyopathy + 'Cirrhotic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial dilated cardiomyopathy' + 'Cirrhotic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Cirrhotic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_75325 Label(s): Osteosclerosis-ichthyosis-premature ovarian failure syndrome + 'Osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + 'Osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' + 'Osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function' + 'Osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' Class: http://www.orpha.net/ORDO/Orphanet_480528 Label(s): Lethal hydranencephaly-diaphragmatic hernia syndrome + 'Lethal hydranencephaly-diaphragmatic hernia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Lethal hydranencephaly-diaphragmatic hernia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Lethal hydranencephaly-diaphragmatic hernia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal hydranencephaly-diaphragmatic hernia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Lethal hydranencephaly-diaphragmatic hernia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal hydranencephaly-diaphragmatic hernia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_480524 Label(s): Idiopathic peliosis hepatis + 'Idiopathic peliosis hepatis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular liver disease' Class: http://www.orpha.net/ORDO/Orphanet_75234 Label(s): Cholesteryl ester storage disease + 'Cholesteryl ester storage disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal acid lipase deficiency' + 'Cholesteryl ester storage disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_75233 Label(s): Wolman disease + 'Wolman disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Wolman disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal acid lipase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_480520 Label(s): Caroli syndrome + 'Caroli syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' + 'Caroli syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic biliary tract disease' + 'Caroli syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_410068 Label(s): French Polynesia - 'French Polynesia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_178330 Label(s): OBSOLETE: Heinz body anemia + 'OBSOLETE: Heinz body anemia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hemolytic anemia' Class: http://www.orpha.net/ORDO/Orphanet_213716 Label(s): Squamous cell carcinoma of the corpus uteri + 'Squamous cell carcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_530792 Label(s): RELA fusion-positive ependymoma + 'RELA fusion-positive ependymoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ependymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_439746 Label(s): Secondary polyarteritis nodosa + 'Secondary polyarteritis nodosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polyarteritis nodosa' Class: http://www.orpha.net/ORDO/Orphanet_228000 Label(s): Idiopathic CD4 lymphocytopenia + 'Idiopathic CD4 lymphocytopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_206564 Label(s): POMGNT1-related limb-girdle muscular dystrophy R15 + 'POMGNT1-related limb-girdle muscular dystrophy R15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'POMGNT1-related limb-girdle muscular dystrophy R15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'POMGNT1-related limb-girdle muscular dystrophy R15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' + 'POMGNT1-related limb-girdle muscular dystrophy R15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_90674 Label(s): Isolated thyroid-stimulating hormone deficiency + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired pituitary hormone deficiency' + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central congenital hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_90673 Label(s): Hypothyroidism due to TSH receptor mutations + 'Hypothyroidism due to TSH receptor mutations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary congenital hypothyroidism without thyroid developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_410072 Label(s): Georgia - 'Georgia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_51188 Label(s): Ethylmalonic encephalopathy + 'Ethylmalonic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Ethylmalonic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unspecified mitochondrial disorder' Class: http://www.orpha.net/ORDO/Orphanet_480512 Label(s): Idiopathic ductopenia + 'Idiopathic ductopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Idiopathic ductopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_410076 Label(s): Greece - 'Greece' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410077 Label(s): Greenland - 'Greenland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_247775 Label(s): Mayer-Rokitansky-Küster-Hauser syndrome type 1 + 'Mayer-Rokitansky-Küster-Hauser syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mayer-Rokitansky-Küster-Hauser syndrome' Class: http://www.orpha.net/ORDO/Orphanet_435329 Label(s): Familial ossifying fibroma + 'Familial ossifying fibroma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic bone tumor' + 'Familial ossifying fibroma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_439737 Label(s): Primary polyarteritis nodosa + 'Primary polyarteritis nodosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polyarteritis nodosa' Class: http://www.orpha.net/ORDO/Orphanet_600016 Label(s): ubiquitin associated protein 1 + 'ubiquitin associated protein 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_631068 Class: http://www.orpha.net/ORDO/Orphanet_600998 Label(s): Non-syndromic cloacal malformation + 'Non-syndromic cloacal malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_409995 Label(s): Albania - 'Albania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_480506 Label(s): Primary intrahepatic lithiasis + 'Primary intrahepatic lithiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_50945 Label(s): Blomstrand lethal chondrodysplasia + 'Blomstrand lethal chondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Blomstrand lethal chondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Blomstrand lethal chondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal osteosclerotic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_50944 Label(s): Schöpf-Schulz-Passarge syndrome + 'Schöpf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Schöpf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Schöpf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Schöpf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Schöpf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_50942 Label(s): Striate palmoplantar keratoderma + 'Striate palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated focal palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_480501 Label(s): Choledochal cyst + 'Choledochal cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' + 'Choledochal cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_85198 Label(s): Dysspondyloenchondromatosis + 'Dysspondyloenchondromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_85197 Label(s): Genochondromatosis type 1 + 'Genochondromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_410089 Label(s): Honduras - 'Honduras' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_85195 Label(s): Familial expansile osteolysis + 'Familial expansile osteolysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_247762 Label(s): Lipoblastoma + 'Lipoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_85192 Label(s): Calvarial doughnut lesions-bone fragility syndrome + 'Calvarial doughnut lesions-bone fragility syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_85191 Label(s): Singleton-Merten dysplasia + 'Singleton-Merten dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'Singleton-Merten dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' + 'Singleton-Merten dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune dysregulation disease with immunodeficiency' + 'Singleton-Merten dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_178355 Label(s): Smith-McCort dysplasia + 'Smith-McCort dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_90791 Label(s): Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XX disorder of sex development induced by fetal androgens excess' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' Class: http://www.orpha.net/ORDO/Orphanet_2309 Label(s): Pachyonychia congenita + 'Pachyonychia congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' + 'Pachyonychia congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' + 'Pachyonychia congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' Class: http://www.orpha.net/ORDO/Orphanet_90658 Label(s): Charcot-Marie-Tooth disease type 1E + 'Charcot-Marie-Tooth disease type 1E' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 1' + 'Charcot-Marie-Tooth disease type 1E' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_363412 Label(s): Hypomyelination with brain stem and spinal cord involvement and leg spasticity + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_409986 Label(s): North America - 'North America' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409985 Label(s): Oceania - 'Oceania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409984 Label(s): Europe - 'Europe' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_329971 Label(s): Generalized juvenile polyposis/juvenile polyposis coli + 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile polyposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90652 Label(s): Otopalatodigital syndrome type 2 + 'Otopalatodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Otopalatodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Otopalatodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Otopalatodigital syndrome spectrum disorder' + 'Otopalatodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Otopalatodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Otopalatodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Otopalatodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Otopalatodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_443087 Label(s): 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency + '46,XY disorder of sex development due to testicular 17,20-desmolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_410095 Label(s): Iran, Islamic Republic of - 'Iran, Islamic Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_443084 Label(s): Baroreflex failure + 'Baroreflex failure' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare autonomic nervous system disorder' Class: http://www.orpha.net/ORDO/Orphanet_85186 Label(s): Endosteal sclerosis-cerebellar hypoplasia syndrome + 'Endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' + 'Endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_85184 Label(s): Craniometadiaphyseal dysplasia, wormian bone type + 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_85182 Label(s): Diaphyseal medullary stenosis-bone malignancy syndrome + 'Diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' + 'Diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' + 'Diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_2311 Label(s): Autosomal recessive spondylocostal dysostosis + 'Autosomal recessive spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of fucoglycosan synthesis' + 'Autosomal recessive spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' + 'Autosomal recessive spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_2312 Label(s): Transient familial neonatal hyperbilirubinemia + 'Transient familial neonatal hyperbilirubinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hepatic disease' + 'Transient familial neonatal hyperbilirubinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic hepatic disease' Class: http://www.orpha.net/ORDO/Orphanet_2314 Label(s): Autosomal dominant hyper-IgE syndrome + 'Autosomal dominant hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2316 Label(s): Johnson neuroectodermal syndrome + 'Johnson neuroectodermal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Johnson neuroectodermal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Johnson neuroectodermal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_329967 Label(s): Intermittent hydrarthrosis + 'Intermittent hydrarthrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' + 'Intermittent hydrarthrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric rheumatologic disease' + 'Intermittent hydrarthrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_409978 Label(s): 6-9 / 10 000 - '6-9 / 10 000' SubClassOf 'lifetime prevalence' - '6-9 / 10 000' SubClassOf 'annual incidence' - '6-9 / 10 000' SubClassOf 'birth prevalence' - '6-9 / 10 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_90647 Label(s): Jervell and Lange-Nielsen syndrome + 'Jervell and Lange-Nielsen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Jervell and Lange-Nielsen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial long QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90646 Label(s): Deafness-hypogonadism syndrome + 'Deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_409975 Label(s): 1-5 / 10 000 - '1-5 / 10 000' SubClassOf 'point prevalence' - '1-5 / 10 000' SubClassOf 'birth prevalence' - '1-5 / 10 000' SubClassOf 'lifetime prevalence' - '1-5 / 10 000' SubClassOf 'annual incidence' Class: http://www.orpha.net/ORDO/Orphanet_409973 Label(s): case - 'case' SubClassOf 'cases/families' Class: http://www.orpha.net/ORDO/Orphanet_90641 Label(s): Mitochondrial non-syndromic sensorineural deafness + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_409970 Label(s): cases/families - 'cases/families' SubClassOf 'epidemiology' Class: http://www.orpha.net/ORDO/Orphanet_50920 Label(s): OBSOLETE: Multiple fibroadenoma of the breast + 'OBSOLETE: Multiple fibroadenoma of the breast' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare benign breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_443073 Label(s): Charcot-Marie-Tooth disease type 2S + 'Charcot-Marie-Tooth disease type 2S' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_527497 Label(s): NKX6-2-related autosomal recessive hypomyelinating leukodystrophy + 'NKX6-2-related autosomal recessive hypomyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive spastic ataxia' + 'NKX6-2-related autosomal recessive hypomyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'NKX6-2-related autosomal recessive hypomyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_85175 Label(s): Astley-Kendall dysplasia + 'Astley-Kendall dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_85174 Label(s): Pseudodiastrophic dysplasia + 'Pseudodiastrophic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' + 'Pseudodiastrophic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' Class: http://www.orpha.net/ORDO/Orphanet_85173 Label(s): IMAGe syndrome + 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare endocrine growth disease' + 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal hypoplasia congenita' + 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic endocrine growth disease' Class: http://www.orpha.net/ORDO/Orphanet_85172 Label(s): Microcephalic osteodysplastic dysplasia, Saul-Wilson type + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microcephalic primordial dwarfism' + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_45452 Label(s): Idiopathic neonatal atrial flutter + 'Idiopathic neonatal atrial flutter' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_2322 Label(s): Kabuki syndrome + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital ectropion' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_2324 Label(s): Osteopenia-intellectual disability-sparse hair syndrome + 'Osteopenia-intellectual disability-sparse hair syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'Osteopenia-intellectual disability-sparse hair syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Osteopenia-intellectual disability-sparse hair syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2325 Label(s): Epidermolysis bullosa simplex with anodontia/hypodontia + 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' + 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex with extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_289666 Label(s): Plasmablastic lymphoma + 'Plasmablastic lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive B-cell non-Hodgkin lymphoma' + 'Plasmablastic lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' Class: http://www.orpha.net/ORDO/Orphanet_289661 Label(s): Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly + 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse large B-cell lymphoma' + 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' Class: http://www.orpha.net/ORDO/Orphanet_409967 Label(s): annual incidence - 'annual incidence' SubClassOf 'epidemiology' Class: http://www.orpha.net/ORDO/Orphanet_90636 Label(s): Autosomal recessive non-syndromic sensorineural deafness type DFNB + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_90635 Label(s): Autosomal dominant non-syndromic sensorineural deafness type DFNA + 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_206586 Label(s): Neurolymphomatosis + 'Neurolymphomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant lymphoma with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_85169 Label(s): Familial digital arthropathy-brachydactyly + 'Familial digital arthropathy-brachydactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'TRPV4-related bone disorder' + 'Familial digital arthropathy-brachydactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_85168 Label(s): Craniofacial conodysplasia + 'Craniofacial conodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_85167 Label(s): Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome + 'Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_443062 Label(s): Familial porphyria cutanea tarda + 'Familial porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Porphyria cutanea tarda' Class: http://www.orpha.net/ORDO/Orphanet_85165 Label(s): Severe achondroplasia-developmental delay-acanthosis nigricans syndrome + 'Severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with micromelia' + 'Severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' + 'Severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'FGFR3-related chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_617930 Label(s): Hemophilia B Leyden + 'Hemophilia B Leyden' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemophilia B' Class: http://www.orpha.net/ORDO/Orphanet_178382 Label(s): Congenital vertical talus + 'Congenital vertical talus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital deformities of limbs' Class: http://www.orpha.net/ORDO/Orphanet_619367 Label(s): SAMD9L-associated autoinflammatory syndrome + 'SAMD9L-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a systemic disease' + 'SAMD9L-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'SAMD9L-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'SAMD9L-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'SAMD9L-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'SAMD9L-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' Class: http://www.orpha.net/ORDO/Orphanet_619948 Label(s): Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome + 'Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' + 'Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed autoinflammatory and autoimmune syndrome' + 'Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' Class: http://www.orpha.net/ORDO/Orphanet_172 Label(s): Progressive familial intrahepatic cholestasis + 'Progressive familial intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of bilirubin metabolism and excretion' + 'Progressive familial intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_2339 Label(s): Keratosis follicularis-dwarfism-cerebral atrophy syndrome + 'Keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' + 'Keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_90625 Label(s): X-linked non-syndromic sensorineural deafness type DFN + 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_329942 Label(s): Transient neonatal multiple acyl-CoA dehydrogenase deficiency + 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_166265 Label(s): Dentinogenesis imperfecta type 3 + 'Dentinogenesis imperfecta type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dentinogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_486811 Label(s): Prenatal-onset spinal muscular atrophy with congenital bone fractures + 'Prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic motor neuron disease' + 'Prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_247724 Label(s): Idiopathic eosinophilic myositis + 'Idiopathic eosinophilic myositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_319600 Label(s): Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' Class: http://www.orpha.net/ORDO/Orphanet_247806 Label(s): APC-related attenuated familial adenomatous polyposis + 'APC-related attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Attenuated familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_2340 Label(s): Keratosis follicularis spinulosa decalvans + 'Keratosis follicularis spinulosa decalvans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Keratosis pilaris atrophicans' Class: http://www.orpha.net/ORDO/Orphanet_325529 Label(s): Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to adrenal disorder' + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' Class: http://www.orpha.net/ORDO/Orphanet_3098 Label(s): Rhizomelic syndrome, Urbach type + 'Rhizomelic syndrome, Urbach type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_3095 Label(s): Atypical Rett syndrome + 'Atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pervasive developmental disorder' + 'Atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Motor stereotypies' + 'Atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_3093 Label(s): Congenital aortic valve stenosis + 'Congenital aortic valve stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ascending aorta anomaly' + 'Congenital aortic valve stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_409947 Label(s): adolescent - 'adolescent' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_169910 Label(s): phosphodiesterase 11A + 'phosphodiesterase 11A' SubClassOf 'modifying germline mutation in' some 'Carney complex' Class: http://www.orpha.net/ORDO/Orphanet_409945 Label(s): infancy - 'infancy' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409944 Label(s): neonatal - 'neonatal' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409943 Label(s): antenatal - 'antenatal' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409940 Label(s): no inheritance data available - 'no inheritance data available' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_247718 Label(s): Inflammatory myopathy with abundant macrophages + 'Inflammatory myopathy with abundant macrophages' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_166277 Label(s): Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia + 'Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformative syndrome with dentinogenesis imperfecta' + 'Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_206599 Label(s): Isolated asymptomatic elevation of creatine phosphokinase + 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of dystrophin' + 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of caveolin-3' Class: http://www.orpha.net/ORDO/Orphanet_527468 Label(s): Diaphragmatic hernia-short bowel-asplenia syndrome + 'Diaphragmatic hernia-short bowel-asplenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic intestinal malformation' + 'Diaphragmatic hernia-short bowel-asplenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Diaphragmatic hernia-short bowel-asplenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic visceral malformation' + 'Diaphragmatic hernia-short bowel-asplenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Diaphragmatic hernia-short bowel-asplenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Diaphragmatic hernia-short bowel-asplenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_65798 Label(s): Goodman syndrome + 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_213787 Label(s): Carcinosarcoma of the cervix uteri + 'Carcinosarcoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant mixed epithelial and mesenchymal tumor of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_2352 Label(s): Kozlowski-Brown-Hardwick syndrome + 'Kozlowski-Brown-Hardwick syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Shprintzen-Goldberg syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251076 Label(s): 8p23.1 duplication syndrome + '8p23.1 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 8' Class: http://www.orpha.net/ORDO/Orphanet_3082 Label(s): Intellectual disability-polydactyly-uncombable hair syndrome + 'Intellectual disability-polydactyly-uncombable hair syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-polydactyly-uncombable hair syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_624259 Label(s): Non-specific autoimmune cerebellar ataxia with characteristic antibodies + 'Non-specific autoimmune cerebellar ataxia with characteristic antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune-mediated cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_168486 Label(s): Congenital neuronal ceroid lipofuscinosis + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuronal ceroid lipofuscinosis' + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_409932 Label(s): X-linked recessive - 'X-linked recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409931 Label(s): multigenic/multifactorial - 'multigenic/multifactorial' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409930 Label(s): autosomal recessive - 'autosomal recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_166286 Label(s): Porokeratotic eccrine ostial and dermal duct nevus + 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_85138 Label(s): Addison disease + 'Addison disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_171700 Label(s): Diffuse panbronchiolitis + 'Diffuse panbronchiolitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_85136 Label(s): Cystic leukoencephalopathy without megalencephaly + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98469 Label(s): OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly + 'OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_213557 Label(s): Salivary gland type cancer of the breast + 'Salivary gland type cancer of the breast' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare malignant breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_49827 Label(s): Thiamine-responsive megaloblastic anemia syndrome + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional sideroblastic anemia' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of thiamine metabolism and transport' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_527450 Label(s): Severe myopia-generalized joint laxity-short stature syndrome + 'Severe myopia-generalized joint laxity-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' + 'Severe myopia-generalized joint laxity-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' Class: http://www.orpha.net/ORDO/Orphanet_2363 Label(s): Lacrimoauriculodentodigital syndrome + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'EEC syndrome and related disorders' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nose and cavum anomaly' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_3079 Label(s): Intellectual disability, Buenos-Aires type + 'Intellectual disability, Buenos-Aires type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability, Buenos-Aires type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_317425 Label(s): Severe combined immunodeficiency due to DNA-PKcs deficiency + 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B- severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_295199 Label(s): Synpolydactyly type 3 + 'Synpolydactyly type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndactyly type 2' Class: http://www.orpha.net/ORDO/Orphanet_295197 Label(s): Synpolydactyly type 2 + 'Synpolydactyly type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndactyly type 2' Class: http://www.orpha.net/ORDO/Orphanet_251066 Label(s): 8p11.2 deletion syndrome + '8p11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 8' Class: http://www.orpha.net/ORDO/Orphanet_295195 Label(s): Synpolydactyly type 1 + 'Synpolydactyly type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndactyly type 2' Class: http://www.orpha.net/ORDO/Orphanet_295193 Label(s): Zygodactyly type 4 + 'Zygodactyly type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndactyly type 1' Class: http://www.orpha.net/ORDO/Orphanet_295191 Label(s): Zygodactyly type 3 + 'Zygodactyly type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndactyly type 1' Class: http://www.orpha.net/ORDO/Orphanet_47612 Label(s): Felty syndrome + 'Felty syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' + 'Felty syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_85128 Label(s): Bothnia retinal dystrophy + 'Bothnia retinal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_171714 Label(s): Amish infantile epilepsy syndrome + 'Amish infantile epilepsy syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'GM3 synthase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_570422 Label(s): Galactose mutarotase deficiency + 'Galactose mutarotase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Galactosemia' Class: http://www.orpha.net/ORDO/Orphanet_2370 Label(s): Larsen-like osseous dysplasia-short stature syndrome + 'Larsen-like osseous dysplasia-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_317430 Label(s): Combined immunodeficiency due to STIM1 deficiency + 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Combined immunodeficiency due to CRAC channel dysfunction' Class: http://www.orpha.net/ORDO/Orphanet_2373 Label(s): Congenital laryngomalacia + 'Congenital laryngomalacia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' + 'Congenital laryngomalacia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2375 Label(s): Laryngeal abductor paralysis-intellectual disability syndrome + 'Laryngeal abductor paralysis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3068 Label(s): Intellectual disability-myopathy-short stature-endocrine defect syndrome + 'Intellectual disability-myopathy-short stature-endocrine defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' + 'Intellectual disability-myopathy-short stature-endocrine defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295189 Label(s): Zygodactyly type 2 + 'Zygodactyly type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndactyly type 1' Class: http://www.orpha.net/ORDO/Orphanet_295187 Label(s): Zygodactyly type 1 + 'Zygodactyly type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndactyly type 1' Class: http://www.orpha.net/ORDO/Orphanet_251056 Label(s): 6q25 microdeletion syndrome + '6q25 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 6' Class: http://www.orpha.net/ORDO/Orphanet_295185 Label(s): OBSOLETE: Central polydactyly of toes, bilateral + 'OBSOLETE: Central polydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_3062 Label(s): OBSOLETE: X-linked intellectual disability, Schutz type + 'OBSOLETE: X-linked intellectual disability, Schutz type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295183 Label(s): OBSOLETE: Central polydactyly of toes, unilateral + 'OBSOLETE: Central polydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_329903 Label(s): Immunoglobulin-mediated membranoproliferative glomerulonephritis + 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary membranoproliferative glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_295181 Label(s): OBSOLETE: Postaxial polydactyly of toes, bilateral + 'OBSOLETE: Postaxial polydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic postaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_251931 Label(s): Cerebellar liponeurocytoma + 'Cerebellar liponeurocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuronal tumor' Class: http://www.orpha.net/ORDO/Orphanet_48377 Label(s): Subcorneal pustular dermatosis + 'Subcorneal pustular dermatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_85112 Label(s): Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome + 'Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XX disorder of sex development' + 'Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' Class: http://www.orpha.net/ORDO/Orphanet_137935 Label(s): Laryngotracheal angioma + 'Laryngotracheal angioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' + 'Laryngotracheal angioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile hemangioma of rare localization' Class: http://www.orpha.net/ORDO/Orphanet_49804 Label(s): Lichen amyloidosis + 'Lichen amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary cutaneous amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_213531 Label(s): Metaplastic carcinoma of the breast + 'Metaplastic carcinoma of the breast' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare malignant breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_3059 Label(s): X-linked intellectual disability, Gu type + 'X-linked intellectual disability, Gu type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'X-linked intellectual disability-short stature-overweight syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295179 Label(s): OBSOLETE: Postaxial polydactyly of toes, unilateral + 'OBSOLETE: Postaxial polydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic postaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_295177 Label(s): OBSOLETE: Preaxial polydactyly of toes, bilateral + 'OBSOLETE: Preaxial polydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_295175 Label(s): OBSOLETE: Preaxial polydactyly of toes, unilateral + 'OBSOLETE: Preaxial polydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_3052 Label(s): X-linked intellectual disability-seizures-psoriasis syndrome + 'X-linked intellectual disability-seizures-psoriasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-seizures-psoriasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'X-linked intellectual disability-seizures-psoriasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'X-linked intellectual disability-seizures-psoriasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295173 Label(s): OBSOLETE: Central polydactyly of fingers, bilateral + 'OBSOLETE: Central polydactyly of fingers, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_3050 Label(s): OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome + 'OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295171 Label(s): OBSOLETE: Central polydactyly of fingers, unilateral + 'OBSOLETE: Central polydactyly of fingers, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_97297 Label(s): Bohring-Opitz syndrome + 'Bohring-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bohring-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bohring-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_280302 Label(s): Autoimmune pancreatitis type 1 + 'Autoimmune pancreatitis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune pancreatitis' + 'Autoimmune pancreatitis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_97295 Label(s): Furlong syndrome + 'Furlong syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Loeys-Dietz syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1808 Label(s): Hidrotic ectodermal dysplasia, Christianson-Fourie type + 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97292 Label(s): Cardiogenic shock + 'Cardiogenic shock' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cardiac disease' Class: http://www.orpha.net/ORDO/Orphanet_141291 Label(s): Cleft lip and alveolus + 'Cleft lip and alveolus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleft lip with or without cleft palate' Class: http://www.orpha.net/ORDO/Orphanet_97290 Label(s): Familial papillary thyroid carcinoma with renal papillary neoplasia + 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' + 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial nonmedullary thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_137929 Label(s): Neonatal brainstem dysfunction + 'Neonatal brainstem dysfunction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_213524 Label(s): Hereditary site-specific ovarian cancer syndrome + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic gynecological and obstetrical diseases' + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial ovarian cancer' Class: http://www.orpha.net/ORDO/Orphanet_137923 Label(s): OBSOLETE: Cervicofacial lymphatic malformation + 'OBSOLETE: Cervicofacial lymphatic malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_521426 Label(s): PLAA-associated neurodevelopmental disorder + 'PLAA-associated neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PLAA-associated neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'PLAA-associated neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_137920 Label(s): Choanal atresia, bilateral + 'Choanal atresia, bilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Choanal atresia' Class: http://www.orpha.net/ORDO/Orphanet_295169 Label(s): OBSOLETE: Postaxial polydactyly type B, bilateral + 'OBSOLETE: Postaxial polydactyly type B, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Postaxial polydactyly type B' Class: http://www.orpha.net/ORDO/Orphanet_251038 Label(s): 3q29 microduplication syndrome + '3q29 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 3' Class: http://www.orpha.net/ORDO/Orphanet_295167 Label(s): OBSOLETE: Postaxial polydactyly type B, unilateral + 'OBSOLETE: Postaxial polydactyly type B, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Postaxial polydactyly type B' Class: http://www.orpha.net/ORDO/Orphanet_3044 Label(s): Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome + 'Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' + 'Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare diabetes mellitus type 1' + 'Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_295165 Label(s): OBSOLETE: Postaxial polydactyly type A, bilateral + 'OBSOLETE: Postaxial polydactyly type A, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Postaxial polydactyly type A' Class: http://www.orpha.net/ORDO/Orphanet_3042 Label(s): Intellectual disability-cataracts-calcified pinnae-myopathy syndrome + 'Intellectual disability-cataracts-calcified pinnae-myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Intellectual disability-cataracts-calcified pinnae-myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-cataracts-calcified pinnae-myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Intellectual disability-cataracts-calcified pinnae-myopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295163 Label(s): OBSOLETE: Postaxial polydactyly type A, unilateral + 'OBSOLETE: Postaxial polydactyly type A, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Postaxial polydactyly type A' Class: http://www.orpha.net/ORDO/Orphanet_295217 Label(s): Radio-ulnar synostosis, unilateral + 'Radio-ulnar synostosis, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital radioulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_295161 Label(s): OBSOLETE: Polysyndactyly, bilateral + 'OBSOLETE: Polysyndactyly, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polysyndactyly' Class: http://www.orpha.net/ORDO/Orphanet_141288 Label(s): Midline cervical cleft + 'Midline cervical cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Median facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_97287 Label(s): Bronchial neuroendocrine tumor + 'Bronchial neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bronchopulmonary tumor' + 'Bronchial neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' Class: http://www.orpha.net/ORDO/Orphanet_97286 Label(s): Carney-Stratakis syndrome + 'Carney-Stratakis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple polyglandular tumor' Class: http://www.orpha.net/ORDO/Orphanet_97285 Label(s): Thyroid lymphoma + 'Thyroid lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thyroid tumor' + 'Thyroid lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary organ-specific lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_97283 Label(s): Somatostatinoma + 'Somatostatinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Duodenal neuroendocrine tumor' + 'Somatostatinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Jejunal neuroendocrine tumor' + 'Somatostatinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning neuroendocrine tumor of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_97280 Label(s): Glucagonoma + 'Glucagonoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning neuroendocrine tumor of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_137917 Label(s): Choanal atresia, unilateral + 'Choanal atresia, unilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Choanal atresia' Class: http://www.orpha.net/ORDO/Orphanet_137914 Label(s): Choanal atresia + 'Choanal atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_213512 Label(s): Malignant mixed Müllerian tumor of the ovary + 'Malignant mixed Müllerian tumor of the ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_137911 Label(s): Autism-facial port-wine stain syndrome + 'Autism-facial port-wine stain syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' Class: http://www.orpha.net/ORDO/Orphanet_521438 Label(s): Congenital vertebral-cardiac-renal anomalies syndrome + 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_295159 Label(s): OBSOLETE: Polysyndactyly, unilateral + 'OBSOLETE: Polysyndactyly, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polysyndactyly' Class: http://www.orpha.net/ORDO/Orphanet_251028 Label(s): SATB2-associated syndrome due to a chromosomal rearrangement + 'SATB2-associated syndrome due to a chromosomal rearrangement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 2' + 'SATB2-associated syndrome due to a chromosomal rearrangement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'SATB2-associated syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3035 Label(s): Growth delay-hydrocephaly-lung hypoplasia syndrome + 'Growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic respiratory or mediastinal malformation' + 'Growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic respiratory malformation' + 'Growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_3034 Label(s): Delayed membranous cranial ossification + 'Delayed membranous cranial ossification' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' + 'Delayed membranous cranial ossification' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' + 'Delayed membranous cranial ossification' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleidocranial dysplasia and isolated cranial ossification defect' Class: http://www.orpha.net/ORDO/Orphanet_3033 Label(s): Renal tubular dysgenesis + 'Renal tubular dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_295154 Label(s): OBSOLETE: Polydactyly of an index finger, bilateral + 'OBSOLETE: Polydactyly of an index finger, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of an index finger' Class: http://www.orpha.net/ORDO/Orphanet_295152 Label(s): OBSOLETE: Polydactyly of an index finger, unilateral + 'OBSOLETE: Polydactyly of an index finger, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of an index finger' Class: http://www.orpha.net/ORDO/Orphanet_97279 Label(s): Insulinoma + 'Insulinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning neuroendocrine tumor of pancreas' Class: http://www.orpha.net/ORDO/Orphanet_295150 Label(s): OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral + 'OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of a triphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_141276 Label(s): Tessier number 7 facial cleft + 'Tessier number 7 facial cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lateral facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_1713 Label(s): 17p11.2 microduplication syndrome + '17p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_137908 Label(s): Hypotonia with lactic acidemia and hyperammonemia + 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_137902 Label(s): Isolated optic nerve hypoplasia/aplasia + 'Isolated optic nerve hypoplasia/aplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare optic nerve disorder' + 'Isolated optic nerve hypoplasia/aplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic developmental defect of the eye' + 'Isolated optic nerve hypoplasia/aplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental defect of the eye' + 'Isolated optic nerve hypoplasia/aplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic optic nerve disorder' Class: http://www.orpha.net/ORDO/Orphanet_251019 Label(s): 2q32q33 microdeletion syndrome + '2q32q33 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 2' + '2q32q33 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '2q32q33 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295148 Label(s): OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral + 'OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of a triphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_295146 Label(s): OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral + 'OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of a biphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_3023 Label(s): External auditory canal atresia-vertical talus-hypertelorism syndrome + 'External auditory canal atresia-vertical talus-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pinnae and external auditory canal anomaly' + 'External auditory canal atresia-vertical talus-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis of genetic origin with limb anomaly as a major feature' + 'External auditory canal atresia-vertical talus-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with limb anomaly as a major feature' + 'External auditory canal atresia-vertical talus-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'External auditory canal atresia-vertical talus-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295144 Label(s): OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral + 'OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polydactyly of a biphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_3021 Label(s): RAPADILINO syndrome + 'RAPADILINO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'RAPADILINO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'RAPADILINO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'RAPADILINO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'RAPADILINO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295142 Label(s): OBSOLETE: Hyperphalangy, bilateral + 'OBSOLETE: Hyperphalangy, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_295140 Label(s): OBSOLETE: Hyperphalangy, unilateral + 'OBSOLETE: Hyperphalangy, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_141265 Label(s): Tessier number 6 facial cleft + 'Tessier number 6 facial cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oblique facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_399 Label(s): Huntington disease + 'Huntington disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with dementia' + 'Huntington disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with chorea' + 'Huntington disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Huntington disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' + 'Huntington disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_397 Label(s): Giant cell arteritis + 'Giant cell arteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly large-vessel vasculitis' + 'Giant cell arteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_396 Label(s): Chronic hiccup + 'Chronic hiccup' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare autonomic nervous system disorder' Class: http://www.orpha.net/ORDO/Orphanet_395 Label(s): Homocystinuria due to methylene tetrahydrofolate reductase deficiency + 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of folate metabolism and transport' + 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_394 Label(s): Classic homocystinuria + 'Classic homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Classic homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Classic homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Classic homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Classic homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Classic homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Classic homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' + 'Classic homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental anomaly of metabolic origin' + 'Classic homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_393 Label(s): 46,XX testicular disorder of sex development + '46,XX testicular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + '46,XX testicular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to gonadal dysgenesis' + '46,XX testicular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XX disorder of gonadal development' Class: http://www.orpha.net/ORDO/Orphanet_392 Label(s): Holt-Oram syndrome + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heart-hand syndrome' Class: http://www.orpha.net/ORDO/Orphanet_391 Label(s): Classic Hodgkin lymphoma + 'Classic Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_390 Label(s): Histoplasmosis + 'Histoplasmosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_295138 Label(s): OBSOLETE: Symbrachydactyly of hand and foot, bilateral + 'OBSOLETE: Symbrachydactyly of hand and foot, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_3015 Label(s): Radio-renal syndrome + 'Radio-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Radio-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_295136 Label(s): OBSOLETE: Symbrachydactyly of hand and foot, unilateral + 'OBSOLETE: Symbrachydactyly of hand and foot, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_3013 Label(s): Radiculomegaly of canine teeth- congenital cataract + 'Radiculomegaly of canine teeth- congenital cataract' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Oculofaciocardiodental syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295134 Label(s): OBSOLETE: Brachydactyly of toes, bilateral + 'OBSOLETE: Brachydactyly of toes, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_295132 Label(s): OBSOLETE: Brachydactyly of toes, unilateral + 'OBSOLETE: Brachydactyly of toes, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_295130 Label(s): OBSOLETE: Brachydactyly of fingers, bilateral + 'OBSOLETE: Brachydactyly of fingers, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_97252 Label(s): Mega-cisterna magna + 'Mega-cisterna magna' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Posterior fossa malformation' Class: http://www.orpha.net/ORDO/Orphanet_457359 Label(s): Megalencephaly-severe kyphoscoliosis-overgrowth syndrome + 'Megalencephaly-severe kyphoscoliosis-overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Megalencephaly-severe kyphoscoliosis-overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Megalencephaly-severe kyphoscoliosis-overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_389 Label(s): Langerhans cell histiocytosis + 'Langerhans cell histiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Langerhans cell histiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Langerhans cell histiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'Langerhans cell histiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dendritic cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_388 Label(s): Hirschsprung disease + 'Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' Class: http://www.orpha.net/ORDO/Orphanet_386 Label(s): Hepatic cystic hamartoma + 'Hepatic cystic hamartoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_384 Label(s): Huriez syndrome + 'Huriez syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_383 Label(s): X-linked mixed deafness with perilymphatic gusher + 'X-linked mixed deafness with perilymphatic gusher' SubClassOf http://www.orpha.net/ORDO/moved_to some 'X-linked non-syndromic sensorineural deafness type DFN' Class: http://www.orpha.net/ORDO/Orphanet_382 Label(s): Guanidinoacetate methyltransferase deficiency + 'Guanidinoacetate methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Creatine deficiency syndrome' + 'Guanidinoacetate methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Guanidinoacetate methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_381 Label(s): Griscelli syndrome + 'Griscelli syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic oculocutaneous albinism' Class: http://www.orpha.net/ORDO/Orphanet_380 Label(s): Greig cephalopolysyndactyly syndrome + 'Greig cephalopolysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathy' + 'Greig cephalopolysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Greig cephalopolysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Greig cephalopolysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_295128 Label(s): OBSOLETE: Brachydactyly of fingers, unilateral + 'OBSOLETE: Brachydactyly of fingers, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_3005 Label(s): Pyle disease + 'Pyle disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_295126 Label(s): OBSOLETE: Split foot, bilateral + 'OBSOLETE: Split foot, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_3003 Label(s): Pyknoachondrogenesis + 'Pyknoachondrogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_295124 Label(s): OBSOLETE: Split foot, unilateral + 'OBSOLETE: Split foot, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_295122 Label(s): OBSOLETE: Split hand, bilateral + 'OBSOLETE: Split hand, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_97249 Label(s): Pontocerebellar hypoplasia type 3 + 'Pontocerebellar hypoplasia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Pontocerebellar hypoplasia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_295120 Label(s): OBSOLETE: Split hand, unilateral + 'OBSOLETE: Split hand, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_97244 Label(s): Rigid spine syndrome + 'Rigid spine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' + 'Rigid spine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of desmin' + 'Rigid spine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of selenoprotein N1' Class: http://www.orpha.net/ORDO/Orphanet_141242 Label(s): Paramedian nasal cleft + 'Paramedian nasal cleft' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paramedian facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_300493 Label(s): Sagliker syndrome + 'Sagliker syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone disease' Class: http://www.orpha.net/ORDO/Orphanet_97240 Label(s): Zebra body myopathy + 'Zebra body myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_379 Label(s): Chronic granulomatous disease + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the visual organs' + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory bowel disease' + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with panuveitis' + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with anterior uveitis' + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional neutrophil defect' + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a granulomatous disease' + 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with posterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_377 Label(s): Gorlin syndrome + 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' + 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' + 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_376 Label(s): Gordon syndrome + 'Gordon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gordon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' + 'Gordon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gordon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_375 Label(s): Anti-glomerular basement membrane disease + 'Anti-glomerular basement membrane disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly small-vessel vasculitis' + 'Anti-glomerular basement membrane disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' + 'Anti-glomerular basement membrane disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_374 Label(s): Goldenhar syndrome + 'Goldenhar syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Oculo-auriculo-vertebral spectrum' Class: http://www.orpha.net/ORDO/Orphanet_373 Label(s): Simpson-Golabi-Behmel syndrome + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Macroglossia' Class: http://www.orpha.net/ORDO/Orphanet_371 Label(s): Glycogen storage disease due to muscle phosphofructokinase deficiency + 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to a disorder of glycolytic enzymes' + 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' + 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' Class: http://www.orpha.net/ORDO/Orphanet_295118 Label(s): OBSOLETE: Adactyly of foot, bilateral + 'OBSOLETE: Adactyly of foot, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_2504 Label(s): Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome + 'Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_295116 Label(s): OBSOLETE: Adactyly of foot, unilateral + 'OBSOLETE: Adactyly of foot, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_2505 Label(s): Multiple benign circumferential skin creases on limbs + 'Multiple benign circumferential skin creases on limbs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified genetic skin disorder' + 'Multiple benign circumferential skin creases on limbs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295114 Label(s): OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral + 'OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_295112 Label(s): OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral + 'OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital hypoplasia of thumb' Class: http://www.orpha.net/ORDO/Orphanet_97239 Label(s): Reducing body myopathy + 'Reducing body myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_295110 Label(s): OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral + 'OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital hypoplasia of thumb' Class: http://www.orpha.net/ORDO/Orphanet_269197 Label(s): Glioependymal/ependymal cyst + 'Glioependymal/ependymal cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central nervous system cystic malformation' Class: http://www.orpha.net/ORDO/Orphanet_456328 Label(s): X-linked myotubular myopathy-abnormal genitalia syndrome + 'X-linked myotubular myopathy-abnormal genitalia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'X-linked myotubular myopathy-abnormal genitalia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome X' + 'X-linked myotubular myopathy-abnormal genitalia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of myotubularin' + 'X-linked myotubular myopathy-abnormal genitalia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Centronuclear myopathy' + 'X-linked myotubular myopathy-abnormal genitalia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97232 Label(s): Fingerprint body myopathy + 'Fingerprint body myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_97231 Label(s): Ligneous conjunctivitis + 'Ligneous conjunctivitis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hypoplasminogenemia' Class: http://www.orpha.net/ORDO/Orphanet_97230 Label(s): Solar urticaria + 'Solar urticaria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_369 Label(s): Glycogen storage disease due to liver glycogen phosphorylase deficiency + 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' + 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_368 Label(s): Glycogen storage disease due to muscle glycogen phosphorylase deficiency + 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' + 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_367 Label(s): Glycogen storage disease due to glycogen branching enzyme deficiency + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial dilated cardiomyopathy' + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for heart transplant' + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_366 Label(s): Glycogen storage disease due to glycogen debranching enzyme deficiency + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease with hypertrophic cardiomyopathy' + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_365 Label(s): Glycogen storage disease due to acid maltase deficiency + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with restrictive cardiomyopathy' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease with hypertrophic cardiomyopathy' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal glycogen storage disease' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' Class: http://www.orpha.net/ORDO/Orphanet_364 Label(s): Glycogen storage disease due to glucose-6-phosphatase deficiency + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_361 Label(s): Familial glucocorticoid deficiency + 'Familial glucocorticoid deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Familial glucocorticoid deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_360 Label(s): Glioblastoma + 'Glioblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'High-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_99647 Label(s): Cheirospondyloenchondromatosis + 'Cheirospondyloenchondromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_295107 Label(s): OBSOLETE: Apodia, bilateral + 'OBSOLETE: Apodia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Apodia' Class: http://www.orpha.net/ORDO/Orphanet_99649 Label(s): OBSOLETE: Generalized epilepsy and praxis-induced seizures + 'OBSOLETE: Generalized epilepsy and praxis-induced seizures' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Thinking seizures' Class: http://www.orpha.net/ORDO/Orphanet_295105 Label(s): OBSOLETE: Apodia, unilateral + 'OBSOLETE: Apodia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Apodia' Class: http://www.orpha.net/ORDO/Orphanet_65285 Label(s): Lhermitte-Duclos disease + 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PTEN hamartoma tumor syndrome' + 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed neuronal-glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_295103 Label(s): OBSOLETE: Acheiria, bilateral + 'OBSOLETE: Acheiria, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acheiria' Class: http://www.orpha.net/ORDO/Orphanet_65283 Label(s): Timothy syndrome + 'Timothy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + 'Timothy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial long QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295101 Label(s): OBSOLETE: Acheiria, unilateral + 'OBSOLETE: Acheiria, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acheiria' Class: http://www.orpha.net/ORDO/Orphanet_459530 Label(s): OBSOLETE: Genetic primary lymphedema + 'OBSOLETE: Genetic primary lymphedema' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_228116 Label(s): Hughes-Stovin syndrome + 'Hughes-Stovin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly large-vessel vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_85323 Label(s): X-linked intellectual disability, Seemanova type + 'X-linked intellectual disability, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_228119 Label(s): Fusariosis + 'Fusariosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_358 Label(s): Gitelman syndrome + 'Gitelman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Gitelman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_85327 Label(s): X-linked intellectual disability-acromegaly-hyperactivity syndrome + 'X-linked intellectual disability-acromegaly-hyperactivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-acromegaly-hyperactivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_356 Label(s): Gerstmann-Straussler-Scheinker syndrome + 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited human prion disease' Class: http://www.orpha.net/ORDO/Orphanet_355 Label(s): Gaucher disease + 'Gaucher disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis' Class: http://www.orpha.net/ORDO/Orphanet_354 Label(s): GM1 gangliosidosis + 'GM1 gangliosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' + 'GM1 gangliosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gangliosidosis' + 'GM1 gangliosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_353 Label(s): Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 + 'Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of gamma-sarcoglycan' + 'Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromuscular disease with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_351 Label(s): Galactosialidosis + 'Galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oligosaccharidosis' + 'Galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_65279 Label(s): OBSOLETE: Lymphocytic colitis + 'OBSOLETE: Lymphocytic colitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_96112 Label(s): Non-distal trisomy 9q + 'Non-distal trisomy 9q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy of the long arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_251957 Label(s): Anaplastic ganglioglioma + 'Anaplastic ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed neuronal-glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_141219 Label(s): Nasal dorsum fistula + 'Nasal dorsum fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_1516 Label(s): Non-syndromic bilambdoid and sagittal craniosynostosis + 'Non-syndromic bilambdoid and sagittal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_2519 Label(s): Microcephaly-seizures-intellectual disability-heart disease syndrome + 'Microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_141214 Label(s): Isolated congenital syngnathia + 'Isolated congenital syngnathia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' Class: http://www.orpha.net/ORDO/Orphanet_228123 Label(s): Coccidioidomycosis + 'Coccidioidomycosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_1339 Label(s): OBSOLETE: Cranioacrofacial syndrome + 'OBSOLETE: Cranioacrofacial syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85333 Label(s): X-linked intellectual disability-spastic paraplegia with iron deposits syndrome + 'X-linked intellectual disability-spastic paraplegia with iron deposits syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Pelizaeus-Merzbacher disease' Class: http://www.orpha.net/ORDO/Orphanet_85334 Label(s): X-linked neurodegenerative syndrome, Bertini type + 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_349 Label(s): Fucosidosis + 'Fucosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Fucosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' + 'Fucosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oligosaccharidosis' + 'Fucosidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_348 Label(s): Fructose-1,6-bisphosphatase deficiency + 'Fructose-1,6-bisphosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gluconeogenesis disorder' + 'Fructose-1,6-bisphosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of fructose metabolism' Class: http://www.orpha.net/ORDO/Orphanet_85337 Label(s): X-linked intellectual disability, Zorick type + 'X-linked intellectual disability, Zorick type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Allan-Herndon-Dudley syndrome' Class: http://www.orpha.net/ORDO/Orphanet_346 Label(s): Quinquaud folliculitis decalvans + 'Quinquaud folliculitis decalvans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_345 Label(s): Dissecting cellulitis of the scalp + 'Dissecting cellulitis of the scalp' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_343 Label(s): Hyperimmunoglobulinemia D with periodic fever + 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mevalonate kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_342 Label(s): Familial Mediterranean fever + 'Familial Mediterranean fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'Familial Mediterranean fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary periodic fever syndrome' + 'Familial Mediterranean fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic systemic disease with glomerulopathy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_340 Label(s): Hemorrhagic fever-renal syndrome + 'Hemorrhagic fever-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_300903 Label(s): ALK-negative anaplastic large cell lymphoma + 'ALK-negative anaplastic large cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anaplastic large cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_280794 Label(s): Pseudoxanthomatous diffuse cutaneous mastocytosis + 'Pseudoxanthomatous diffuse cutaneous mastocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse cutaneous mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_90797 Label(s): Partial androgen insensitivity syndrome + 'Partial androgen insensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Androgen insensitivity syndrome' Class: http://www.orpha.net/ORDO/Orphanet_356947 Label(s): 3q26q27 microdeletion syndrome + '3q26q27 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 3' Class: http://www.orpha.net/ORDO/Orphanet_338 Label(s): Familial multiple fibrofolliculoma + 'Familial multiple fibrofolliculoma' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Birt-Hogg-Dubé syndrome' Class: http://www.orpha.net/ORDO/Orphanet_337 Label(s): Fibrodysplasia ossificans progressiva + 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic subcutaneous tissue disorder' + 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' + 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' Class: http://www.orpha.net/ORDO/Orphanet_334 Label(s): Familial atrial fibrillation + 'Familial atrial fibrillation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_333 Label(s): Farber disease + 'Farber disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Farber disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis with epilepsy' + 'Farber disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' + 'Farber disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Farber disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic subcutaneous tissue disorder' + 'Farber disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Farber disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis' Class: http://www.orpha.net/ORDO/Orphanet_332 Label(s): Congenital intrinsic factor deficiency + 'Congenital intrinsic factor deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Congenital intrinsic factor deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of cobalamin metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_331 Label(s): Congenital factor XIII deficiency + 'Congenital factor XIII deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_330 Label(s): Congenital factor XII deficiency + 'Congenital factor XII deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_157798 Label(s): Serrated polyposis syndrome + 'Serrated polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal polyposis syndrome' + 'Serrated polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal polyposis' Class: http://www.orpha.net/ORDO/Orphanet_73223 Label(s): Global developmental delay-osteopenia-ectodermal defect syndrome + 'Global developmental delay-osteopenia-ectodermal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-osteopenia-ectodermal defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_69665 Label(s): Intrahepatic cholestasis of pregnancy + 'Intrahepatic cholestasis of pregnancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Intrahepatic cholestasis of pregnancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_280785 Label(s): Bullous diffuse cutaneous mastocytosis + 'Bullous diffuse cutaneous mastocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse cutaneous mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_1423 Label(s): Lethal recessive chondrodysplasia + 'Lethal recessive chondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_157791 Label(s): Epithelioid hemangioendothelioma + 'Epithelioid hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular tumor' + 'Epithelioid hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_73229 Label(s): HANAC syndrome + 'HANAC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy' + 'HANAC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Collagen-related glomerular basement membrane disease' Class: http://www.orpha.net/ORDO/Orphanet_555434 Label(s): Fibrohistiocytic inflammatory pseudotumor of the liver + 'Fibrohistiocytic inflammatory pseudotumor of the liver' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory pseudotumor of the liver' Class: http://www.orpha.net/ORDO/Orphanet_369852 Label(s): Congenital neutropenia-myelofibrosis-nephromegaly syndrome + 'Congenital neutropenia-myelofibrosis-nephromegaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_555437 Label(s): Lymphoplasmacytic inflammatory pseudotumor of the liver + 'Lymphoplasmacytic inflammatory pseudotumor of the liver' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory pseudotumor of the liver' + 'Lymphoplasmacytic inflammatory pseudotumor of the liver' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related disease' Class: http://www.orpha.net/ORDO/Orphanet_329 Label(s): Congenital factor XI deficiency + 'Congenital factor XI deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_231183 Label(s): Usher syndrome type 3 + 'Usher syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Usher syndrome' Class: http://www.orpha.net/ORDO/Orphanet_327 Label(s): Congenital factor VII deficiency + 'Congenital factor VII deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital vitamin K-dependent coagulation factors deficiency' Class: http://www.orpha.net/ORDO/Orphanet_326 Label(s): Congenital factor V deficiency + 'Congenital factor V deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_325 Label(s): Congenital factor II deficiency + 'Congenital factor II deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital vitamin K-dependent coagulation factors deficiency' Class: http://www.orpha.net/ORDO/Orphanet_324 Label(s): Fabry disease + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with restrictive cardiomyopathy' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental anomaly of metabolic origin' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis with epilepsy' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_322 Label(s): Exstrophy-epispadias complex + 'Exstrophy-epispadias complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic renal or urinary tract malformation' + 'Exstrophy-epispadias complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of male and female' + 'Exstrophy-epispadias complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' + 'Exstrophy-epispadias complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_321 Label(s): Multiple osteochondromas + 'Multiple osteochondromas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Multiple osteochondromas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosylglycan synthesis' + 'Multiple osteochondromas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'Multiple osteochondromas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic bone tumor' + 'Multiple osteochondromas' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_320 Label(s): Apparent mineralocorticoid excess + 'Apparent mineralocorticoid excess' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic adrenal disease' + 'Apparent mineralocorticoid excess' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare adrenal disease' + 'Apparent mineralocorticoid excess' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Apparent mineralocorticoid excess' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cause of hypertension' Class: http://www.orpha.net/ORDO/Orphanet_592888 Label(s): Isolated optic neuritis with anti-MOG antibodies + 'Isolated optic neuritis with anti-MOG antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated optic neuritis' Class: http://www.orpha.net/ORDO/Orphanet_157788 Label(s): Hypospadias-hypertelorism-coloboma and deafness syndrome + 'Hypospadias-hypertelorism-coloboma and deafness syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Branchioskeletogenital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_280774 Label(s): Generalized essential telangiectasia + 'Generalized essential telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_240917 Label(s): OBSOLETE: Vecuronium toxicity + 'OBSOLETE: Vecuronium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_251962 Label(s): Papillary glioneuronal tumor + 'Papillary glioneuronal tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed neuronal-glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_231178 Label(s): Usher syndrome type 2 + 'Usher syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Usher syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228157 Label(s): Marburg acute multiple sclerosis + 'Marburg acute multiple sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple sclerosis variant' Class: http://www.orpha.net/ORDO/Orphanet_319 Label(s): Skeletal Ewing sarcoma + 'Skeletal Ewing sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bone sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_318 Label(s): Acute erythroid leukemia + 'Acute erythroid leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_317 Label(s): Erythrokeratodermia variabilis + 'Erythrokeratodermia variabilis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited non-syndromic ichthyosis' + 'Erythrokeratodermia variabilis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Erythrokeratodermia variabilis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Erythrokeratoderma variabilis progressiva' + 'Erythrokeratodermia variabilis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_316 Label(s): Progressive symmetric erythrokeratodermia + 'Progressive symmetric erythrokeratodermia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Erythrokeratoderma variabilis progressiva' + 'Progressive symmetric erythrokeratodermia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_315 Label(s): Erythrokeratoderma ''en cocardes'' + 'Erythrokeratoderma ''en cocardes''' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic erythrokeratoderma' + 'Erythrokeratoderma ''en cocardes''' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Erythrokeratoderma' Class: http://www.orpha.net/ORDO/Orphanet_314 Label(s): Erythroderma desquamativum + 'Erythroderma desquamativum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Erythroderma desquamativum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_313 Label(s): Lamellar ichthyosis + 'Lamellar ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_99694 Label(s): Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome + 'Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' Class: http://www.orpha.net/ORDO/Orphanet_617301 Label(s): Selective intrauterine growth restriction + 'Selective intrauterine growth restriction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to inadequate sharing of the placenta' Class: http://www.orpha.net/ORDO/Orphanet_73245 Label(s): Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome + 'Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spinal muscular atrophy associated with central nervous system anomaly' + 'Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a Dandy-Walker malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_280763 Label(s): Severe intellectual disability and progressive spastic paraplegia + 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_1434 Label(s): OBSOLETE: Choroideremia-hypopituitarism syndrome + 'OBSOLETE: Choroideremia-hypopituitarism syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xq21 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3312 Label(s): Thalidomide embryopathy + 'Thalidomide embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' + 'Thalidomide embryopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_369861 Label(s): Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome + 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_1436 Label(s): X-linked skeletal dysplasia-intellectual disability syndrome + 'X-linked skeletal dysplasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'X-linked skeletal dysplasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked skeletal dysplasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked skeletal dysplasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_3313 Label(s): OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome + 'OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_228169 Label(s): Autosomal dominant striatal neurodegeneration + 'Autosomal dominant striatal neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Autosomal dominant striatal neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_308 Label(s): Progressive myoclonic epilepsy type 1 + 'Progressive myoclonic epilepsy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' + 'Progressive myoclonic epilepsy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_307 Label(s): Juvenile myoclonic epilepsy + 'Juvenile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect' + 'Juvenile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' + 'Juvenile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_306 Label(s): Benign familial infantile epilepsy + 'Benign familial infantile epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' + 'Benign familial infantile epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign partial infantile seizures' + 'Benign familial infantile epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' + 'Benign familial infantile epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' Class: http://www.orpha.net/ORDO/Orphanet_231160 Label(s): Familial cerebral saccular aneurysm + 'Familial cerebral saccular aneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurovascular malformation' + 'Familial cerebral saccular aneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_302 Label(s): Epidermodysplasia verruciformis + 'Epidermodysplasia verruciformis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' + 'Epidermodysplasia verruciformis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'Epidermodysplasia verruciformis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Epidermodysplasia verruciformis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_300 Label(s): Bifunctional enzyme deficiency + 'Bifunctional enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal beta-oxidation disorder' Class: http://www.orpha.net/ORDO/Orphanet_73256 Label(s): Central neurocytoma + 'Central neurocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuronal tumor' Class: http://www.orpha.net/ORDO/Orphanet_480491 Label(s): MYO5B-related progressive familial intrahepatic cholestasis + 'MYO5B-related progressive familial intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive familial intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_279891 Label(s): Chronic endophthalmitis + 'Chronic endophthalmitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Endophthalmitis' Class: http://www.orpha.net/ORDO/Orphanet_1739 Label(s): OBSOLETE: Duplication 4q + 'OBSOLETE: Duplication 4q' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Partial duplication of the long arm of chromosome 4' Class: http://www.orpha.net/ORDO/Orphanet_228179 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2M + 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_231154 Label(s): Combined immunodeficiency due to partial RAG1 deficiency + 'Combined immunodeficiency due to partial RAG1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_1116 Label(s): Aplasia cutis congenita-intestinal lymphangiectasia syndrome + 'Aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' + 'Aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' + 'Aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary lymphedema with systemic or visceral involvement' + 'Aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed dermis disorder' + 'Aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic mixed dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_363489 Label(s): Sex cord-stromal tumor of testis + 'Sex cord-stromal tumor of testis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of testis and paratestis' Class: http://www.orpha.net/ORDO/Orphanet_33276 Label(s): Kaposi sarcoma + 'Kaposi sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Human herpesvirus 8-related disorder' + 'Kaposi sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' + 'Kaposi sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_263516 Label(s): Progressive myoclonic epilepsy type 3 + 'Progressive myoclonic epilepsy type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile neuronal ceroid lipofuscinosis' + 'Progressive myoclonic epilepsy type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Progressive myoclonic epilepsy type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_73260 Label(s): Paracoccidioidomycosis + 'Paracoccidioidomycosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_75378 Label(s): Oligocone trichromacy + 'Oligocone trichromacy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_167742 Label(s): mediator complex subunit 25 - 'mediator complex subunit 25' SubClassOf 'disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2B2' Class: http://www.orpha.net/ORDO/Orphanet_410101 Label(s): Jamaica - 'Jamaica' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410102 Label(s): Japan - 'Japan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_480483 Label(s): Progressive familial intrahepatic cholestasis type 4 + 'Progressive familial intrahepatic cholestasis type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive familial intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_410104 Label(s): Jordan - 'Jordan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_1445 Label(s): Ring chromosome 21 syndrome + 'Ring chromosome 21 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_231144 Label(s): Silver-Russell syndrome due to 11p15 microduplication + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 11' + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Silver-Russell syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1449 Label(s): Ring chromosome 7 syndrome + 'Ring chromosome 7 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_231140 Label(s): Silver-Russell syndrome due to an imprinting defect of 11p15 + 'Silver-Russell syndrome due to an imprinting defect of 11p15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Silver-Russell syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231401 Label(s): Alpha-thalassemia-myelodysplastic syndrome + 'Alpha-thalassemia-myelodysplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with alpha-thalassemia as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_314918 Label(s): Mild Canavan disease + 'Mild Canavan disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Canavan disease' Class: http://www.orpha.net/ORDO/Orphanet_280921 Label(s): Idiopathic panuveitis + 'Idiopathic panuveitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Panuveitis' Class: http://www.orpha.net/ORDO/Orphanet_1856 Label(s): Spondyloperipheral dysplasia-short ulna syndrome + 'Spondyloperipheral dysplasia-short ulna syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloperipheral dysplasia-short ulna syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_480476 Label(s): Progressive familial intrahepatic cholestasis type 5 + 'Progressive familial intrahepatic cholestasis type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive familial intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_410113 Label(s): Latvia - 'Latvia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410115 Label(s): Lesotho - 'Lesotho' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_250999 Label(s): 1q41q42 microdeletion syndrome + '1q41q42 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 1' Class: http://www.orpha.net/ORDO/Orphanet_231137 Label(s): Silver-Russell syndrome due to 7p11.2p13 microduplication + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_250994 Label(s): 1q21.1 microduplication syndrome + '1q21.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 1' Class: http://www.orpha.net/ORDO/Orphanet_261183 Label(s): 15q11.2 microdeletion syndrome + '15q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 15' Class: http://www.orpha.net/ORDO/Orphanet_231130 Label(s): Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex chromosomal rearrangement' + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beckwith-Wiedemann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251262 Label(s): Familial osteochondritis dissecans + 'Familial osteochondritis dissecans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteonecrosis of genetic origin' + 'Familial osteochondritis dissecans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggrecan-related bone disorder' + 'Familial osteochondritis dissecans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteonecrosis' Class: http://www.orpha.net/ORDO/Orphanet_40923 Label(s): Eales disease + 'Eales disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' + 'Eales disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_2557 Label(s): Mietens syndrome + 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' + 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_519402 Label(s): Isolated megalopapilla + 'Isolated megalopapilla' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital optic disc excavation' Class: http://www.orpha.net/ORDO/Orphanet_2999 Label(s): Ptosis-strabismus-ectopic pupils syndrome + 'Ptosis-strabismus-ectopic pupils syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Ptosis-strabismus-ectopic pupils syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Ptosis-strabismus-ectopic pupils syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'Ptosis-strabismus-ectopic pupils syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Ptosis-strabismus-ectopic pupils syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_31043 Label(s): Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement + 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis' Class: http://www.orpha.net/ORDO/Orphanet_250989 Label(s): 1q21.1 microdeletion syndrome + '1q21.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 1' Class: http://www.orpha.net/ORDO/Orphanet_2995 Label(s): Baraitser-Winter cerebrofrontofacial syndrome + 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with lissencephaly as a major feature' + 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' Class: http://www.orpha.net/ORDO/Orphanet_2994 Label(s): Short stature-craniofacial anomalies-genital hypoplasia syndrome + 'Short stature-craniofacial anomalies-genital hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Short stature-craniofacial anomalies-genital hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_231127 Label(s): Beckwith-Wiedemann syndrome due to 11p15 microdeletion + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 11' Class: http://www.orpha.net/ORDO/Orphanet_250984 Label(s): Autosomal recessive Stickler syndrome + 'Autosomal recessive Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' + 'Autosomal recessive Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stickler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2990 Label(s): Autosomal recessive multiple pterygium syndrome + 'Autosomal recessive multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Autosomal recessive multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple pterygium syndrome' + 'Autosomal recessive multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_231120 Label(s): Beckwith-Wiedemann syndrome due to CDKN1C mutation + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beckwith-Wiedemann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231537 Label(s): Hermansky-Pudlak syndrome type 8 + 'Hermansky-Pudlak syndrome type 8' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hermansky-Pudlak syndrome due to BLOC-1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2989 Label(s): Familial pterygium of the conjunctiva + 'Familial pterygium of the conjunctiva' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with conjunctival involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2987 Label(s): Antecubital pterygium syndrome + 'Antecubital pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' + 'Antecubital pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_250977 Label(s): AICA-ribosiduria + 'AICA-ribosiduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'AICA-ribosiduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'AICA-ribosiduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'AICA-ribosiduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_231117 Label(s): Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Beckwith-Wiedemann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2981 Label(s): Pseudo-Zellweger syndrome + 'Pseudo-Zellweger syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Bifunctional enzyme deficiency' Class: http://www.orpha.net/ORDO/Orphanet_250972 Label(s): Polymicrogyria with optic nerve hypoplasia + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic optic nerve hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_199642 Label(s): Isolated congenital microcephaly + 'Isolated congenital microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebral malformation' + 'Isolated congenital microcephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_1745 Label(s): Distal trisomy 6p + 'Distal trisomy 6p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 6' Class: http://www.orpha.net/ORDO/Orphanet_55655 Label(s): Pneumococcal meningitis + 'Pneumococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' + 'Pneumococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease of the nervous system' + 'Pneumococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_157719 Label(s): Juvenile or adult CACH syndrome + 'Juvenile or adult CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_157716 Label(s): Late infantile CACH syndrome + 'Late infantile CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_157713 Label(s): Congenital or early infantile CACH syndrome + 'Congenital or early infantile CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_440727 Label(s): Combined hamartoma of the retina and retinal pigment epithelium + 'Combined hamartoma of the retina and retinal pigment epithelium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_2978 Label(s): Chronic intestinal pseudoobstruction + 'Chronic intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' Class: http://www.orpha.net/ORDO/Orphanet_410146 Label(s): Nepal - 'Nepal' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_99141 Label(s): Lymphedema-posterior choanal atresia syndrome + 'Lymphedema-posterior choanal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' + 'Lymphedema-posterior choanal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare lymphatic malformation' + 'Lymphedema-posterior choanal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nose and cavum anomaly' + 'Lymphedema-posterior choanal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late-onset primary lymphedema without systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_2975 Label(s): 46,XX disorder of sex development-skeletal anomalies syndrome + '46,XX disorder of sex development-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XX disorder of sex development' + '46,XX disorder of sex development-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' Class: http://www.orpha.net/ORDO/Orphanet_2973 Label(s): 46,XX disorder of sex development-anorectal anomalies syndrome + '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic uterovaginal malformation' + '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XX disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_2972 Label(s): Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome + 'Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2971 Label(s): Peroxisomal acyl-CoA oxidase deficiency + 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal disease with epilepsy' + 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal beta-oxidation disorder' Class: http://www.orpha.net/ORDO/Orphanet_2970 Label(s): Prune belly syndrome + 'Prune belly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fetal lower urinary tract obstruction' Class: http://www.orpha.net/ORDO/Orphanet_279640 Label(s): myostatin - 'myostatin' SubClassOf 'gene with protein product' - 'myostatin' SubClassOf 'has_chromosomal location' value "2q32.2" - 'myostatin' SubClassOf 'disease-causing germline mutation(s) in' some 'Myostatin-related muscle hypertrophy' Class: http://www.orpha.net/ORDO/Orphanet_1530 Label(s): OBSOLETE: Craniosynostosis-cataract syndrome + 'OBSOLETE: Craniosynostosis-cataract syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_357449 Label(s): cysteinyl-tRNA synthetase 1 + 'cysteinyl-tRNA synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_247698 Label(s): Multiple endocrine neoplasia type 2A + 'Multiple endocrine neoplasia type 2A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal/paraganglial tumor' + 'Multiple endocrine neoplasia type 2A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple endocrine neoplasia type 2' Class: http://www.orpha.net/ORDO/Orphanet_2967 Label(s): Transcobalamin I deficiency + 'Transcobalamin I deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of cobalamin metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_2966 Label(s): Properdin deficiency + 'Properdin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to a complement regulatory deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2965 Label(s): Prolactinoma + 'Prolactinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Prolactinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Prolactinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_2964 Label(s): Autosomal dominant prognathism + 'Autosomal dominant prognathism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Autosomal dominant prognathism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2963 Label(s): Progeroid syndrome, Petty type + 'Progeroid syndrome, Petty type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Progeroid syndrome, Petty type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Progeroid syndrome, Petty type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_2962 Label(s): De Barsy syndrome + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutis laxa' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of proline metabolism' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_247691 Label(s): Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations + 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' + 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' + 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cerebral small vessel disease' + 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_37629 Label(s): Neonatal neutropenia + 'Neonatal neutropenia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_2573 Label(s): Moyamoya disease + 'Moyamoya disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Moyamoya angiopathy' Class: http://www.orpha.net/ORDO/Orphanet_85276 Label(s): X-linked intellectual disability, Armfield type + 'X-linked intellectual disability, Armfield type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'X-linked intellectual disability, Armfield type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Armfield type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Armfield type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_394529 Label(s): Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type + 'Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_410161 Label(s): Palestinian Territory, occupied - 'Palestinian Territory, occupied' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410162 Label(s): Panama - 'Panama' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_2579 Label(s): Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome + 'Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_2958 Label(s): X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome + 'X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2957 Label(s): Guttmacher syndrome + 'Guttmacher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Guttmacher syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_247685 Label(s): Odontohypophosphatasia + 'Odontohypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Odontohypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatasia' Class: http://www.orpha.net/ORDO/Orphanet_2953 Label(s): Musculocontractural Ehlers-Danlos syndrome + 'Musculocontractural Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with nephropathy as a major feature' + 'Musculocontractural Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'Musculocontractural Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' + 'Musculocontractural Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-xylosylglycan synthesis' + 'Musculocontractural Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' + 'Musculocontractural Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'Musculocontractural Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_2952 Label(s): Adducted thumbs-arthrogryposis syndrome, Christian type + 'Adducted thumbs-arthrogryposis syndrome, Christian type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Adducted thumbs-arthrogryposis syndrome, Christian type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_2951 Label(s): Absent thumb-short stature-immunodeficiency syndrome + 'Absent thumb-short stature-immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_2950 Label(s): Triphalangeal thumb-polysyndactyly syndrome + 'Triphalangeal thumb-polysyndactyly syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1479 Label(s): Atrial septal defect-atrioventricular conduction defects syndrome + 'Atrial septal defect-atrioventricular conduction defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Atrial septal defect-atrioventricular conduction defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_562639 Label(s): Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome + 'Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_394532 Label(s): Multiple acyl-CoA dehydrogenase deficiency, mild type + 'Multiple acyl-CoA dehydrogenase deficiency, mild type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_37612 Label(s): Episodic ataxia type 1 + 'Episodic ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Episodic ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary episodic ataxia' + 'Episodic ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_329894 Label(s): Juvenile overlap myositis + 'Juvenile overlap myositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile idiopathic inflammatory myopathy' Class: http://www.orpha.net/ORDO/Orphanet_1877 Label(s): Muscular dystrophy-white matter spongiosis syndrome + 'Muscular dystrophy-white matter spongiosis syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Laminin subunit alpha 2-related congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_3341 Label(s): Torticollis-keloids-cryptorchidism-renal dysplasia syndrome + 'Torticollis-keloids-cryptorchidism-renal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2947 Label(s): Triphalangeal thumbs-brachyectrodactyly syndrome + 'Triphalangeal thumbs-brachyectrodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_247676 Label(s): Adult hypophosphatasia + 'Adult hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Adult hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatasia' Class: http://www.orpha.net/ORDO/Orphanet_213823 Label(s): Adenoid cystic carcinoma of the cervix uteri + 'Adenoid cystic carcinoma of the cervix uteri' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cancer of cervix uteri' Class: http://www.orpha.net/ORDO/Orphanet_2942 Label(s): Postpoliomyelitis syndrome + 'Postpoliomyelitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_2941 Label(s): Porencephaly-cerebellar hypoplasia-internal malformations syndrome + 'Porencephaly-cerebellar hypoplasia-internal malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_250932 Label(s): Autosomal dominant optic atrophy and peripheral neuropathy + 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant optic atrophy' + 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' Class: http://www.orpha.net/ORDO/Orphanet_118066 Label(s): pre-mRNA processing factor 8 + 'pre-mRNA processing factor 8' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_599082 Label(s): CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome + 'CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_289596 Label(s): Juvenile nasopharyngeal angiofibroma + 'Juvenile nasopharyngeal angiofibroma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_63259 Label(s): Iniencephaly + 'Iniencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neural tube closure defect' Class: http://www.orpha.net/ORDO/Orphanet_329883 Label(s): Non-hypoproteinemic hypertrophic gastropathy + 'Non-hypoproteinemic hypertrophic gastropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_1143 Label(s): Neurogenic arthrogryposis multiplex congenita + 'Neurogenic arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_247667 Label(s): Childhood-onset hypophosphatasia + 'Childhood-onset hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatasia' + 'Childhood-onset hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Childhood-onset hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_2935 Label(s): Crossed polysyndactyly + 'Crossed polysyndactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_2932 Label(s): Chronic inflammatory demyelinating polyneuropathy + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuroinflammatory or neuroimmunological disease' + 'Chronic inflammatory demyelinating polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic polyradiculoneuropathy' Class: http://www.orpha.net/ORDO/Orphanet_250923 Label(s): Isolated aniridia + 'Isolated aniridia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Isolated aniridia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental anomaly without extraocular manifestations' + 'Isolated aniridia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_2930 Label(s): Cronkhite-Canada syndrome + 'Cronkhite-Canada syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal polyposis syndrome' + 'Cronkhite-Canada syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_482606 Label(s): X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome + 'X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' Class: http://www.orpha.net/ORDO/Orphanet_241045 Label(s): OBSOLETE: Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation + 'OBSOLETE: Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_289586 Label(s): Exfoliative ichthyosis + 'Exfoliative ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital ichthyosis' + 'Exfoliative ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serpinopathy with loss of serpin function' Class: http://www.orpha.net/ORDO/Orphanet_241041 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of phenytoin or carbamazepine toxicity' Class: http://www.orpha.net/ORDO/Orphanet_329874 Label(s): Idiopathic giant cell myocarditis + 'Idiopathic giant cell myocarditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_319229 Label(s): Bolivian hemorrhagic fever + 'Bolivian hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_410190 Label(s): Sierra leone - 'Sierra leone' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410191 Label(s): Singapore - 'Singapore' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_2929 Label(s): Juvenile polyposis syndrome + 'Juvenile polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal polyposis' + 'Juvenile polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal polyposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2928 Label(s): Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome + 'Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2926 Label(s): Digital extensor muscle aplasia-polyneuropathy + 'Digital extensor muscle aplasia-polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2925 Label(s): OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome + 'OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_2924 Label(s): Isolated polycystic liver disease + 'Isolated polycystic liver disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic biliary tract disease' + 'Isolated polycystic liver disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Isolated polycystic liver disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_399329 Label(s): Epiphysiolysis of the hip + 'Epiphysiolysis of the hip' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteonecrosis' Class: http://www.orpha.net/ORDO/Orphanet_247651 Label(s): Infantile hypophosphatasia + 'Infantile hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Infantile hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Infantile hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatasia' Class: http://www.orpha.net/ORDO/Orphanet_178461 Label(s): X-linked myopathy with postural muscle atrophy + 'X-linked myopathy with postural muscle atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_241039 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phenytoin treatment + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phenytoin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of phenytoin or carbamazepine toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241037 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of phenytoin or carbamazepine toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241031 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to satracurium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to satracurium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_77300 Label(s): Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome + 'Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1490 Label(s): Corneal dystrophy-perceptive deafness syndrome + 'Corneal dystrophy-perceptive deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Corneal dystrophy-perceptive deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_409876 Label(s): myocardin related transcription factor A + 'myocardin related transcription factor A' SubClassOf 'disease-causing germline mutation(s) in' some 'Immune deficiency due to impaired neutrophil phagocytosis and migration' Class: http://www.orpha.net/ORDO/Orphanet_1492 Label(s): OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome + 'OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2598 Label(s): Mitochondrial myopathy and sideroblastic anemia + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_79507 Label(s): Hypotonia-failure to thrive-microcephaly syndrome + 'Hypotonia-failure to thrive-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_79506 Label(s): Cholesterol-ester transfer protein deficiency + 'Cholesterol-ester transfer protein deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperalphalipoproteinemia' Class: http://www.orpha.net/ORDO/Orphanet_1495 Label(s): Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome + 'Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_79503 Label(s): Ichthyosis hystrix of Curth-Macklin + 'Ichthyosis hystrix of Curth-Macklin' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Keratinopathic ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_45358 Label(s): Congenital fibrosis of extraocular muscles + 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' + 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_2911 Label(s): Poland syndrome + 'Poland syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Poland syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic breast hypoplasia/aplasia' Class: http://www.orpha.net/ORDO/Orphanet_137898 Label(s): Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome + 'Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_241029 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to rocuronium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to rocuronium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241027 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to pancuronium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to pancuronium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_137893 Label(s): Male infertility due to large-headed multiflagellar polyploid spermatozoa + 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility with teratozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_241025 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to mivacurium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to mivacurium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_325448 Label(s): Leydig cell hypoplasia due to LHB deficiency + 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leydig cell hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_2427 Label(s): Macrocephaly-short stature-paraplegia syndrome + 'Macrocephaly-short stature-paraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly-short stature-paraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly-short stature-paraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a Dandy-Walker malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_241021 Label(s): OBSOLETE: Susceptibility to neutropenia due to mercaptopurine treatment + 'OBSOLETE: Susceptibility to neutropenia due to mercaptopurine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_168552 Label(s): Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome + 'Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_410054 Label(s): Dominican Republic - 'Dominican Republic' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_50817 Label(s): Duane anomaly-myopathy-scoliosis syndrome + 'Duane anomaly-myopathy-scoliosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Duane anomaly-myopathy-scoliosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Duane anomaly-myopathy-scoliosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_50816 Label(s): Spondylometaphyseal dysplasia with combined immunodeficiency + 'Spondylometaphyseal dysplasia with combined immunodeficiency' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Spondyloenchondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_50815 Label(s): Branchiogenic deafness syndrome + 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_50814 Label(s): Craniolenticulosutural dysplasia + 'Craniolenticulosutural dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Craniolenticulosutural dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Craniolenticulosutural dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Craniolenticulosutural dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_50812 Label(s): Zellweger-like syndrome without peroxisomal anomalies + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' Class: http://www.orpha.net/ORDO/Orphanet_247638 Label(s): Prenatal benign hypophosphatasia + 'Prenatal benign hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Prenatal benign hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatasia' Class: http://www.orpha.net/ORDO/Orphanet_2907 Label(s): Hereditary acrokeratotic poikiloderma + 'Hereditary acrokeratotic poikiloderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary poikiloderma' Class: http://www.orpha.net/ORDO/Orphanet_2905 Label(s): POEMS syndrome + 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Plasma cell tumor' + 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic acquired demyelinating polyneuropathy' + 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hematological disease associated with an acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2903 Label(s): Familial spontaneous pneumothorax + 'Familial spontaneous pneumothorax' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Familial spontaneous pneumothorax' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_399307 Label(s): Idiopathic avascular necrosis + 'Idiopathic avascular necrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_137888 Label(s): Auriculocondylar syndrome + 'Auriculocondylar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Otomandibular dysplasia' + 'Auriculocondylar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Auriculocondylar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_241019 Label(s): OBSOLETE: Susceptibility to neutropenia due to azathioprine treatment + 'OBSOLETE: Susceptibility to neutropenia due to azathioprine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_241015 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to glipizide treatment + 'OBSOLETE: Susceptibility to hypoglycemia due to glipizide treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_241013 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to glimepiride treatment + 'OBSOLETE: Susceptibility to hypoglycemia due to glimepiride treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_241011 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to gliclazide treatment + 'OBSOLETE: Susceptibility to hypoglycemia due to gliclazide treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_2439 Label(s): Patterson-Stevenson-Fontaine syndrome + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_227510 Label(s): Multiple system atrophy, cerebellar type + 'Multiple system atrophy, cerebellar type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple system atrophy' + 'Multiple system atrophy, cerebellar type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-hereditary degenerative ataxia' Class: http://www.orpha.net/ORDO/Orphanet_99063 Label(s): Shone complex + 'Shone complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital mitral valve insufficiency and/or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_99064 Label(s): Straddling and/or overriding mitral valve + 'Straddling and/or overriding mitral valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleft mitral valve' Class: http://www.orpha.net/ORDO/Orphanet_247623 Label(s): Perinatal lethal hypophosphatasia + 'Perinatal lethal hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatasia' Class: http://www.orpha.net/ORDO/Orphanet_178493 Label(s): Myopic macular degeneration + 'Myopic macular degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_241007 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to carbutamide treatment + 'OBSOLETE: Susceptibility to hypoglycemia due to carbutamide treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_137871 Label(s): OBSOLETE: Laminopathy type Decaudain-Vigouroux + 'OBSOLETE: Laminopathy type Decaudain-Vigouroux' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial partial lipodystrophy, Dunnigan type' Class: http://www.orpha.net/ORDO/Orphanet_241003 Label(s): OBSOLETE: Susceptibility to hepatitis due to voriconazole treatment + 'OBSOLETE: Susceptibility to hepatitis due to voriconazole treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_241001 Label(s): OBSOLETE: Susceptibility to hepatitis due to flucloxacilline treatment + 'OBSOLETE: Susceptibility to hepatitis due to flucloxacilline treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of flucloxacilline toxicity' Class: http://www.orpha.net/ORDO/Orphanet_449566 Label(s): Eosinophilic angiocentric fibrosis + 'Eosinophilic angiocentric fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related disease' + 'Eosinophilic angiocentric fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' Class: http://www.orpha.net/ORDO/Orphanet_168572 Label(s): Native American myopathy + 'Native American myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with malignant hyperthermia' + 'Native American myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' + 'Native American myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_449563 Label(s): IgG4-related ophthalmic disease + 'IgG4-related ophthalmic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' + 'IgG4-related ophthalmic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder involving multiple structures of the eye' Class: http://www.orpha.net/ORDO/Orphanet_529574 Label(s): Duane retraction syndrome with congenital deafness + 'Duane retraction syndrome with congenital deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Duane retraction syndrome with congenital deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Duane retraction syndrome with congenital deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Duane retraction syndrome with congenital deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Duane retraction syndrome with congenital deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_569290 Label(s): Multiple mitochondrial dysfunctions syndrome type 6 + 'Multiple mitochondrial dysfunctions syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Multiple mitochondrial dysfunctions syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Multiple mitochondrial dysfunctions syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple mitochondrial dysfunctions syndrome' Class: http://www.orpha.net/ORDO/Orphanet_572550 Label(s): RFVT3-related riboflavin transporter deficiency + 'RFVT3-related riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Riboflavin transporter deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2623 Label(s): Geleophysic dysplasia + 'Geleophysic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_137867 Label(s): Madras motor neuron disease + 'Madras motor neuron disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_289539 Label(s): BAP1-related tumor predisposition syndrome + 'BAP1-related tumor predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137862 Label(s): Martínez-Frías syndrome + 'Martínez-Frías syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169808 Label(s): Mild hemophilia A + 'Mild hemophilia A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemophilia A' Class: http://www.orpha.net/ORDO/Orphanet_352587 Label(s): Focal epilepsy-intellectual disability-cerebro-cerebellar malformation + 'Focal epilepsy-intellectual disability-cerebro-cerebellar malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Focal epilepsy-intellectual disability-cerebro-cerebellar malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Focal epilepsy-intellectual disability-cerebro-cerebellar malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' + 'Focal epilepsy-intellectual disability-cerebro-cerebellar malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_169805 Label(s): Moderate hemophilia A + 'Moderate hemophilia A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemophilia A' Class: http://www.orpha.net/ORDO/Orphanet_1766 Label(s): Dysequilibrium syndrome + 'Dysequilibrium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Dysequilibrium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_43116 Label(s): Serotonin syndrome + 'Serotonin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with malignant hyperthermia' Class: http://www.orpha.net/ORDO/Orphanet_43115 Label(s): Hereditary myopathy with lactic acidosis due to ISCU deficiency + 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Exercise intolerance with lactic acidosis' + 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_572543 Label(s): RFVT2-related riboflavin transporter deficiency + 'RFVT2-related riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' + 'RFVT2-related riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Riboflavin transporter deficiency' Class: http://www.orpha.net/ORDO/Orphanet_544482 Label(s): Infection-related hemolytic uremic syndrome + 'Infection-related hemolytic uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare acquired hemolytic anemia' + 'Infection-related hemolytic uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79094 Label(s): Grange syndrome + 'Grange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' + 'Grange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Grange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Grange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Grange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_168588 Label(s): Hyperandrogenism due to cortisone reductase deficiency + 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomaly of puberty or/and menstrual cycle' + 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomaly of puberty or/and menstrual cycle of genetic origin' + 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenogenital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1114 Label(s): Aplasia cutis congenita + 'Aplasia cutis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic mixed dermis disorder' + 'Aplasia cutis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' + 'Aplasia cutis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' + 'Aplasia cutis congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_75373 Label(s): Progressive bifocal chorioretinal atrophy + 'Progressive bifocal chorioretinal atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated chorioretinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_247604 Label(s): Juvenile primary lateral sclerosis + 'Juvenile primary lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_580933 Label(s): Lethal brain and heart developmental defects + 'Lethal brain and heart developmental defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal brain and heart developmental defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal brain and heart developmental defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Lethal brain and heart developmental defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1166 Label(s): Congenital unilateral hypoplasia of depressor anguli oris + 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare head and neck malformation' Class: http://www.orpha.net/ORDO/Orphanet_319254 Label(s): Kyasanur forest disease + 'Kyasanur forest disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_295099 Label(s): OBSOLETE: Congenital absence of both lower leg and foot, bilateral + 'OBSOLETE: Congenital absence of both lower leg and foot, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of both lower leg and foot' Class: http://www.orpha.net/ORDO/Orphanet_295097 Label(s): OBSOLETE: Congenital absence of both lower leg and foot, unilateral + 'OBSOLETE: Congenital absence of both lower leg and foot, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of both lower leg and foot' Class: http://www.orpha.net/ORDO/Orphanet_289522 Label(s): Microtriplication 11q24.1 + 'Microtriplication 11q24.1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microtriplication 11q24.1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 11' + 'Microtriplication 11q24.1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295095 Label(s): OBSOLETE: Congenital absence of both forearm and hand, bilateral + 'OBSOLETE: Congenital absence of both forearm and hand, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of both forearm and hand' Class: http://www.orpha.net/ORDO/Orphanet_295093 Label(s): OBSOLETE: Congenital absence of both forearm and hand, unilateral + 'OBSOLETE: Congenital absence of both forearm and hand, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of both forearm and hand' Class: http://www.orpha.net/ORDO/Orphanet_329813 Label(s): Mosaic genome-wide paternal uniparental disomy + 'Mosaic genome-wide paternal uniparental disomy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal uniparental disomy' Class: http://www.orpha.net/ORDO/Orphanet_295091 Label(s): OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral + 'OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of thigh and lower leg with foot present' Class: http://www.orpha.net/ORDO/Orphanet_474 Label(s): Jeune syndrome + 'Jeune syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy' + 'Jeune syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Jeune syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Jeune syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Jeune syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Jeune syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Short rib-polydactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85275 Label(s): Microphthalmia-ankyloblepharon-intellectual disability syndrome + 'Microphthalmia-ankyloblepharon-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia-ankyloblepharon-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ankyloblepharon filiforme adnatum' + 'Microphthalmia-ankyloblepharon-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia-ankyloblepharon-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_580940 Label(s): QRICH1-related intellectual disability-chondrodysplasia syndrome + 'QRICH1-related intellectual disability-chondrodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'QRICH1-related intellectual disability-chondrodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' + 'QRICH1-related intellectual disability-chondrodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'QRICH1-related intellectual disability-chondrodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'QRICH1-related intellectual disability-chondrodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2470 Label(s): Matthew-Wood syndrome + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic respiratory malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic respiratory or mediastinal malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_85277 Label(s): X-linked intellectual disability, Cantagrel type + 'X-linked intellectual disability, Cantagrel type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295089 Label(s): OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral + 'OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of thigh and lower leg with foot present' Class: http://www.orpha.net/ORDO/Orphanet_295087 Label(s): OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral + 'OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital absence of upper arm and forearm with hand present' Class: http://www.orpha.net/ORDO/Orphanet_295083 Label(s): OBSOLETE: Fibular hemimelia, bilateral + 'OBSOLETE: Fibular hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Fibular hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295081 Label(s): OBSOLETE: Fibular hemimelia, unilateral + 'OBSOLETE: Fibular hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Fibular hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_33572 Label(s): 5-oxoprolinase deficiency + '5-oxoprolinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of the gamma-glutamyl cycle' Class: http://www.orpha.net/ORDO/Orphanet_544493 Label(s): Streptococcus pneumoniae-associated hemolytic uremic syndrome + 'Streptococcus pneumoniae-associated hemolytic uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infection-related hemolytic uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295227 Label(s): Congenital elbow dislocation, bilateral + 'Congenital elbow dislocation, bilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated congenital radial head dislocation' Class: http://www.orpha.net/ORDO/Orphanet_580951 Label(s): Punctate inner choroidopathy + 'Punctate inner choroidopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare choroidal disorder' + 'Punctate inner choroidopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-infectious posterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_137839 Label(s): Lemierre syndrome + 'Lemierre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_238578 Label(s): Familial clubfoot due to 17q23.1q23.2 microduplication + 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial clubfoot with or without associated lower limb anomalies' + 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_2481 Label(s): Neurocutaneous melanocytosis + 'Neurocutaneous melanocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'Neurocutaneous melanocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137834 Label(s): Frank-Ter Haar syndrome + 'Frank-Ter Haar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Otopalatodigital syndrome spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_352731 Label(s): Oculocutaneous albinism type 1 + 'Oculocutaneous albinism type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism' Class: http://www.orpha.net/ORDO/Orphanet_137831 Label(s): X-linked intellectual disability-cerebellar hypoplasia syndrome + 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_295079 Label(s): OBSOLETE: Tibial hemimelia, bilateral + 'OBSOLETE: Tibial hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Tibial hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_289504 Label(s): Combined malonic and methylmalonic acidemia + 'Combined malonic and methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic organic aciduria' + 'Combined malonic and methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295077 Label(s): OBSOLETE: Tibial hemimelia, unilateral + 'OBSOLETE: Tibial hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Tibial hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295075 Label(s): OBSOLETE: Ulnar hemimelia, unilateral + 'OBSOLETE: Ulnar hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ulnar hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295073 Label(s): OBSOLETE: Ulnar hemimelia, bilateral + 'OBSOLETE: Ulnar hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Ulnar hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295071 Label(s): OBSOLETE: Radial hemimelia, bilateral + 'OBSOLETE: Radial hemimelia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Radial hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_141194 Label(s): Cerebrofacial arteriovenous metameric syndrome type 1 + 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebrofacial arteriovenous metameric syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1173 Label(s): Cerebellar ataxia-hypogonadism syndrome + 'Cerebellar ataxia-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' + 'Cerebellar ataxia-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_1175 Label(s): X-linked progressive cerebellar ataxia + 'X-linked progressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'X-linked progressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_171839 Label(s): Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome + 'Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_352596 Label(s): Progressive myoclonic epilepsy with dystonia + 'Progressive myoclonic epilepsy with dystonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Progressive myoclonic epilepsy with dystonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137820 Label(s): Extrapelvic endometriosis + 'Extrapelvic endometriosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare non-malformative gynecologic or obstetric disease' Class: http://www.orpha.net/ORDO/Orphanet_295069 Label(s): OBSOLETE: Radial hemimelia, unilateral + 'OBSOLETE: Radial hemimelia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Radial hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_2498 Label(s): Syndactyly type 8 + 'Syndactyly type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_295067 Label(s): OBSOLETE: Femoral agenesis/hypoplasia, bilateral + 'OBSOLETE: Femoral agenesis/hypoplasia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Femoral agenesis/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_295065 Label(s): OBSOLETE: Femoral agenesis/hypoplasia, unilateral + 'OBSOLETE: Femoral agenesis/hypoplasia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Femoral agenesis/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_295063 Label(s): OBSOLETE: Humeral agenesis/hypoplasia, bilateral + 'OBSOLETE: Humeral agenesis/hypoplasia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humeral agenesis/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_295061 Label(s): OBSOLETE: Humeral agenesis/hypoplasia, unilateral + 'OBSOLETE: Humeral agenesis/hypoplasia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Humeral agenesis/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_1556 Label(s): Cutis marmorata telangiectatica congenita + 'Cutis marmorata telangiectatica congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare capillary malformation' + 'Cutis marmorata telangiectatica congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_171844 Label(s): Blindness-scoliosis-arachnodactyly syndrome + 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' + 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' + 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' Class: http://www.orpha.net/ORDO/Orphanet_137817 Label(s): Arachnoiditis + 'Arachnoiditis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_171848 Label(s): Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome + 'Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary disease with peripheral neuropathy' + 'Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' + 'Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_137814 Label(s): Macular amyloidosis + 'Macular amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary cutaneous amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_137810 Label(s): Nodular cutaneous amyloidosis + 'Nodular cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary cutaneous amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_295059 Label(s): OBSOLETE: Amelia of lower limb, bilateral + 'OBSOLETE: Amelia of lower limb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Amelia of lower limb' Class: http://www.orpha.net/ORDO/Orphanet_295057 Label(s): OBSOLETE: Amelia of lower limb, unilateral + 'OBSOLETE: Amelia of lower limb, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Amelia of lower limb' Class: http://www.orpha.net/ORDO/Orphanet_295055 Label(s): OBSOLETE: Amelia of upper limb, bilateral + 'OBSOLETE: Amelia of upper limb, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Amelia of upper limb' Class: http://www.orpha.net/ORDO/Orphanet_295053 Label(s): OBSOLETE: Amelia of upper limb, unilateral + 'OBSOLETE: Amelia of upper limb, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Amelia of upper limb' Class: http://www.orpha.net/ORDO/Orphanet_295051 Label(s): Lower limb hypertrophy + 'Lower limb hypertrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non syndromic limb overgrowth' Class: http://www.orpha.net/ORDO/Orphanet_171220 Label(s): Rectal duplication + 'Rectal duplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_141171 Label(s): Maxillary arteriovenous malformation + 'Maxillary arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Facial arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_171851 Label(s): MEDNIK syndrome + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of copper metabolism' + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic erythrokeratoderma' + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with prominent neurologic signs' + 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Erythrokeratoderma' Class: http://www.orpha.net/ORDO/Orphanet_98896 Label(s): Duchenne muscular dystrophy + 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Duchenne and Becker muscular dystrophy' + 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' + 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of dystrophin' Class: http://www.orpha.net/ORDO/Orphanet_457279 Label(s): Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome + 'Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99701 Label(s): Mesial temporal lobe epilepsy with hippocampal sclerosis + 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_99704 Label(s): Early-onset obesity-hyperphagia-severe developmental delay syndrome + 'Early-onset obesity-hyperphagia-severe developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Early-onset obesity-hyperphagia-severe developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + 'Early-onset obesity-hyperphagia-severe developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_617294 Label(s): Twin anemia-polycythemia sequence + 'Twin anemia-polycythemia sequence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to unbalanced inter-twin blood transfusion' + 'Twin anemia-polycythemia sequence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hematologic disease' Class: http://www.orpha.net/ORDO/Orphanet_295049 Label(s): Upper limb hypertrophy + 'Upper limb hypertrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non syndromic limb overgrowth' Class: http://www.orpha.net/ORDO/Orphanet_295047 Label(s): Macrodactyly of toes + 'Macrodactyly of toes' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non syndromic limb overgrowth' Class: http://www.orpha.net/ORDO/Orphanet_295044 Label(s): Macrodactyly of fingers + 'Macrodactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non syndromic limb overgrowth' Class: http://www.orpha.net/ORDO/Orphanet_295041 Label(s): OBSOLETE: Patella aplasia/hypoplasia, bilateral + 'OBSOLETE: Patella aplasia/hypoplasia, bilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Patella aplasia/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_141168 Label(s): Frontonasal arteriovenous malformation + 'Frontonasal arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Facial arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_93101 Label(s): Renal hypoplasia + 'Renal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic renal or urinary tract malformation' + 'Renal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_53035 Label(s): Caroli disease + 'Caroli disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Caroli disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic visceral malformation' + 'Caroli disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic biliary tract disease' + 'Caroli disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_141163 Label(s): Glossopalatine ankylosis + 'Glossopalatine ankylosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oromandibular-limb hypogenesis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93108 Label(s): Renal dysplasia + 'Renal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic renal or urinary tract malformation' + 'Renal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_171863 Label(s): Autosomal dominant spastic paraplegia type 42 + 'Autosomal dominant spastic paraplegia type 42' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_599507 Label(s): Acquired factor XI deficiency + 'Acquired factor XI deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_298 Label(s): Mitochondrial neurogastrointestinal encephalomyopathy + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with peripheral neuropathy' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA maintenance syndrome' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pyrimidine metabolism' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with intestinal involvement' Class: http://www.orpha.net/ORDO/Orphanet_297 Label(s): Tick-borne encephalitis + 'Tick-borne encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' + 'Tick-borne encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_296 Label(s): Ollier disease + 'Ollier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Ollier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic bone tumor' + 'Ollier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Ollier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Ollier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Ollier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_295 Label(s): Fetal parvovirus syndrome + 'Fetal parvovirus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' + 'Fetal parvovirus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_294 Label(s): Fetal cytomegalovirus syndrome + 'Fetal cytomegalovirus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious embryofetopathy' + 'Fetal cytomegalovirus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_292 Label(s): Congenital enterovirus infection + 'Congenital enterovirus infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_291 Label(s): Congenital varicella syndrome + 'Congenital varicella syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious embryofetopathy' + 'Congenital varicella syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_290 Label(s): Congenital rubella syndrome + 'Congenital rubella syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious embryofetopathy' + 'Congenital rubella syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Congenital rubella syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_295038 Label(s): OBSOLETE: Patella aplasia/hypoplasia, unilateral + 'OBSOLETE: Patella aplasia/hypoplasia, unilateral' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Patella aplasia/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_99718 Label(s): Leber plus disease + 'Leber plus disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with dilated cardiomyopathy' + 'Leber plus disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary optic neuropathy' + 'Leber plus disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Leber plus disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_295036 Label(s): Congenital patella dislocation + 'Congenital patella dislocation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_295034 Label(s): Congenital knee dislocation + 'Congenital knee dislocation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_295032 Label(s): Isolated congenital radial head dislocation + 'Isolated congenital radial head dislocation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_295030 Label(s): True congenital shoulder dislocation + 'True congenital shoulder dislocation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_499182 Label(s): Pilomatrix carcinoma + 'Pilomatrix carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_141152 Label(s): Isolated congenital hypoglossia/aglossia + 'Isolated congenital hypoglossia/aglossia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypoglossia/aglossia' Class: http://www.orpha.net/ORDO/Orphanet_171871 Label(s): Renal pseudohypoaldosteronism type 1 + 'Renal pseudohypoaldosteronism type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoaldosteronism type 1' Class: http://www.orpha.net/ORDO/Orphanet_279904 Label(s): Primary intraocular lymphoma + 'Primary intraocular lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary organ-specific lymphoma' + 'Primary intraocular lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_289 Label(s): Ellis Van Creveld syndrome + 'Ellis Van Creveld syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Ellis Van Creveld syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Short rib-polydactyly syndrome' + 'Ellis Van Creveld syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Ellis Van Creveld syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Ellis Van Creveld syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Ellis Van Creveld syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy' + 'Ellis Van Creveld syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_288 Label(s): Hereditary elliptocytosis + 'Hereditary elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' Class: http://www.orpha.net/ORDO/Orphanet_287 Label(s): Classical Ehlers-Danlos syndrome + 'Classical Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Classical Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Classical Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with dentinogenesis imperfecta' + 'Classical Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_286 Label(s): Vascular Ehlers-Danlos syndrome + 'Vascular Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Vascular Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_285 Label(s): Hypermobile Ehlers-Danlos syndrome + 'Hypermobile Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284 Label(s): Alveolar echinococcosis + 'Alveolar echinococcosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_283 Label(s): Demodicidosis + 'Demodicidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_281 Label(s): Monosomy 5p + 'Monosomy 5p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 5' + 'Monosomy 5p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Monosomy 5p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic epicanthus' Class: http://www.orpha.net/ORDO/Orphanet_280 Label(s): Wolf-Hirschhorn syndrome + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 4' + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_211017 Label(s): Spinocerebellar ataxia type 30 + 'Spinocerebellar ataxia type 30' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type III' Class: http://www.orpha.net/ORDO/Orphanet_295026 Label(s): Congenital pseudoarthrosis of the ulna + 'Congenital pseudoarthrosis of the ulna' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pseudoarthrosis of the limbs' Class: http://www.orpha.net/ORDO/Orphanet_2661 Label(s): Dwarfism-tall vertebrae syndrome + 'Dwarfism-tall vertebrae syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '3M syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295024 Label(s): Congenital pseudoarthrosis of the radius + 'Congenital pseudoarthrosis of the radius' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pseudoarthrosis of the limbs' Class: http://www.orpha.net/ORDO/Orphanet_617408 Label(s): Classic eosinophilic pustular folliculitis + 'Classic eosinophilic pustular folliculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_295022 Label(s): Congenital pseudoarthrosis of the fibula + 'Congenital pseudoarthrosis of the fibula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pseudoarthrosis of the limbs' Class: http://www.orpha.net/ORDO/Orphanet_295020 Label(s): Congenital pseudoarthrosis of the femur + 'Congenital pseudoarthrosis of the femur' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pseudoarthrosis of the limbs' Class: http://www.orpha.net/ORDO/Orphanet_141145 Label(s): Hemifacial hyperplasia + 'Hemifacial hyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Macroglossia' Class: http://www.orpha.net/ORDO/Orphanet_180079 Label(s): Pseudounicornuate uterus + 'Pseudounicornuate uterus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unilateral aplasia of the Müllerian ducts' Class: http://www.orpha.net/ORDO/Orphanet_171881 Label(s): Cap myopathy + 'Cap myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of tropomyosin' + 'Cap myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_221150 Label(s): OBSOLETE: Pitt-Hopkins-like syndrome + 'OBSOLETE: Pitt-Hopkins-like syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'CNTNAP2-related developmental and epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_278 Label(s): OBSOLETE: Corticobasal degeneration + 'OBSOLETE: Corticobasal degeneration' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Corticobasal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_277 Label(s): Severe combined immunodeficiency due to adenosine deaminase deficiency + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_276 Label(s): T-B+ severe combined immunodeficiency due to gamma chain deficiency + 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_275 Label(s): Severe combined immunodeficiency due to DCLRE1C deficiency + 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B- severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_274 Label(s): Bernard-Soulier syndrome + 'Bernard-Soulier syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hereditary giant platelet disorder' Class: http://www.orpha.net/ORDO/Orphanet_273 Label(s): Steinert myotonic dystrophy + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Musculoskeletal disease with cataract' + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myotonic dystrophy' + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' + 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_272 Label(s): Congenital muscular dystrophy, Fukuyama type + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of fukutin' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with developmental anomaly' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_457240 Label(s): X-linked intellectual disability-short stature-overweight syndrome + 'X-linked intellectual disability-short stature-overweight syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'X-linked intellectual disability-short stature-overweight syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-short stature-overweight syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'X-linked intellectual disability-short stature-overweight syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295018 Label(s): Congenital pseudoarthrosis of the tibia + 'Congenital pseudoarthrosis of the tibia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pseudoarthrosis of the limbs' Class: http://www.orpha.net/ORDO/Orphanet_295014 Label(s): Familial isolated clinodactyly of fingers + 'Familial isolated clinodactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital deformities of fingers' Class: http://www.orpha.net/ORDO/Orphanet_295012 Label(s): Syndactyly type 6 + 'Syndactyly type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_295010 Label(s): OBSOLETE: Central polydactyly of toes + 'OBSOLETE: Central polydactyly of toes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Central polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_95232 Label(s): Lissencephaly due to LIS1 mutation + 'Lissencephaly due to LIS1 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic lissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_141136 Label(s): Otomandibular syndrome + 'Otomandibular syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Oculo-auriculo-vertebral spectrum' Class: http://www.orpha.net/ORDO/Orphanet_293168 Label(s): Infantile-onset ascending hereditary spastic paralysis + 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_221145 Label(s): Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies + 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutis laxa' Class: http://www.orpha.net/ORDO/Orphanet_141132 Label(s): Oculo-auriculo-vertebral spectrum + 'Oculo-auriculo-vertebral spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Oculo-auriculo-vertebral spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Oculo-auriculo-vertebral spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Otomandibular dysplasia' + 'Oculo-auriculo-vertebral spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder involving multiple structures of the eye' + 'Oculo-auriculo-vertebral spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Oculo-auriculo-vertebral spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_221142 Label(s): Confetti-like macular atrophy + 'Confetti-like macular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_279922 Label(s): Infectious anterior uveitis + 'Infectious anterior uveitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_269 Label(s): Facioscapulohumeral dystrophy + 'Facioscapulohumeral dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_268 Label(s): Dysferlin-related limb-girdle muscular dystrophy R2 + 'Dysferlin-related limb-girdle muscular dystrophy R2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of dysferlin' + 'Dysferlin-related limb-girdle muscular dystrophy R2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_267 Label(s): Calpain-3-related limb-girdle muscular dystrophy R1 + 'Calpain-3-related limb-girdle muscular dystrophy R1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Calpain-3-related limb-girdle muscular dystrophy R1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of calpain' Class: http://www.orpha.net/ORDO/Orphanet_266 Label(s): Autosomal dominant limb-girdle muscular dystrophy type 1A + 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myotilinopathy' Class: http://www.orpha.net/ORDO/Orphanet_265 Label(s): Autosomal dominant limb-girdle muscular dystrophy type 1C + 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Rippling muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_264 Label(s): Autosomal dominant limb-girdle muscular dystrophy type 1B + 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_261 Label(s): Emery-Dreifuss muscular dystrophy + 'Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' + 'Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromuscular disease with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_295008 Label(s): OBSOLETE: Postaxial polydactyly of toes + 'OBSOLETE: Postaxial polydactyly of toes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic postaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_295006 Label(s): OBSOLETE: Preaxial polydactyly of toes + 'OBSOLETE: Preaxial polydactyly of toes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_307766 Label(s): Curly hair-acral keratoderma-caries syndrome + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295004 Label(s): Central polydactyly + 'Central polydactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic complex polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_240999 Label(s): OBSOLETE: Susceptibility to deafness due to cisplatin treatment + 'OBSOLETE: Susceptibility to deafness due to cisplatin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of cisplatin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_295000 Label(s): Constriction rings syndrome + 'Constriction rings syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_240997 Label(s): OBSOLETE: Susceptibility to bleeding due to warfarine treatment + 'OBSOLETE: Susceptibility to bleeding due to warfarine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240995 Label(s): OBSOLETE: Susceptibility to bleeding due to phenprocoumon treatment + 'OBSOLETE: Susceptibility to bleeding due to phenprocoumon treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_141124 Label(s): Congenital laryngeal cyst + 'Congenital laryngeal cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_240993 Label(s): OBSOLETE: Susceptibility to bleeding due to fluindione treatment + 'OBSOLETE: Susceptibility to bleeding due to fluindione treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_99645 Label(s): Dappled diaphyseal dysplasia + 'Dappled diaphyseal dysplasia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Greenberg dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_240991 Label(s): OBSOLETE: Susceptibility to bleeding due to acenocoumarol treatment + 'OBSOLETE: Susceptibility to bleeding due to acenocoumarol treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_3032 Label(s): NPHP3-related Meckel-like syndrome + 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a Dandy-Walker malformation as a major feature' + 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a Dandy-Walker malformation as a major feature' + 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in nephronophthisis gene' Class: http://www.orpha.net/ORDO/Orphanet_99648 Label(s): OBSOLETE: Non-progressive congenital heart block + 'OBSOLETE: Non-progressive congenital heart block' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_258 Label(s): Laminin subunit alpha 2-related congenital muscular dystrophy + 'Laminin subunit alpha 2-related congenital muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Laminin subunit alpha 2-related congenital muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminin subunit alpha 2-related muscular dystrophy' + 'Laminin subunit alpha 2-related congenital muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_99329 Label(s): 48,XYYY syndrome + '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to gonadal dysgenesis' + '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Y chromosome number anomaly' Class: http://www.orpha.net/ORDO/Orphanet_30925 Label(s): Hereditary central diabetes insipidus + 'Hereditary central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary deficiency' + 'Hereditary central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central diabetes insipidus' Class: http://www.orpha.net/ORDO/Orphanet_30924 Label(s): Primary hypomagnesemia with secondary hypocalcemia + 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of magnesium transport' Class: http://www.orpha.net/ORDO/Orphanet_99757 Label(s): Embryonal rhabdomyosarcoma + 'Embryonal rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rhabdomyosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_97556 Label(s): Congenital and infantile nephrotic syndrome + 'Congenital and infantile nephrotic syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Genetic nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293181 Label(s): Malignant migrating focal seizures of infancy + 'Malignant migrating focal seizures of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' + 'Malignant migrating focal seizures of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal epilepsy syndrome' + 'Malignant migrating focal seizures of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Channelopathy with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_141118 Label(s): Nasal encephalocele + 'Nasal encephalocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' + 'Nasal encephalocele' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated encephalocele' Class: http://www.orpha.net/ORDO/Orphanet_240987 Label(s): OBSOLETE: Susceptibility to adverse reaction due to trimipramine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to trimipramine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240985 Label(s): OBSOLETE: Susceptibility to adverse reaction due to simvastatin treatment + 'OBSOLETE: Susceptibility to adverse reaction due to simvastatin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_221126 Label(s): Fowler vasculopaty + 'Fowler vasculopaty' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Fowler vasculopaty' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_240983 Label(s): OBSOLETE: Susceptibility to adverse reaction due to rosuvastatin treatment + 'OBSOLETE: Susceptibility to adverse reaction due to rosuvastatin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_141112 Label(s): Nasal glial heterotopia + 'Nasal glial heterotopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' + 'Nasal glial heterotopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_240981 Label(s): OBSOLETE: Susceptibility to adverse reaction due to pravastatin treatment + 'OBSOLETE: Susceptibility to adverse reaction due to pravastatin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_221120 Label(s): Pseudoaminopterin syndrome + 'Pseudoaminopterin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pseudoaminopterin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_263417 Label(s): Bartter syndrome with hypocalcemia + 'Bartter syndrome with hypocalcemia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Autosomal dominant hypocalcemia' Class: http://www.orpha.net/ORDO/Orphanet_249 Label(s): Fibrous dysplasia of bone + 'Fibrous dysplasia of bone' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fibrous dysplasia/McCune-Albright syndrome' Class: http://www.orpha.net/ORDO/Orphanet_248 Label(s): Autosomal recessive hypohidrotic ectodermal dysplasia + 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypohidrotic ectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_246 Label(s): Postaxial acrofacial dysostosis + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic eyelid coloboma' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary ectropion' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_245 Label(s): Nager syndrome + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic outer canthal malposition' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic eyelid coloboma' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with branchial archs anomalies' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_244 Label(s): Primary ciliary dyskinesia + 'Primary ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Primary ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Primary ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to sperm motility disorder' + 'Primary ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in the RPGR gene' Class: http://www.orpha.net/ORDO/Orphanet_243 Label(s): 46,XX gonadal dysgenesis + '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XX disorder of gonadal development' + '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gonadal dysgenesis of gynecological interest' + '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to gonadal dysgenesis' + '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' Class: http://www.orpha.net/ORDO/Orphanet_241 Label(s): Dyschromatosis universalis hereditaria + 'Dyschromatosis universalis hereditaria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Dyschromatosis universalis hereditaria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_97564 Label(s): Pauci-immune glomerulonephritis without ANCA + 'Pauci-immune glomerulonephritis without ANCA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pauci-immune glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_293190 Label(s): OBSOLETE: Pleomorphic undifferentiated sarcoma + 'OBSOLETE: Pleomorphic undifferentiated sarcoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Undifferentiated pleomorphic sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_240979 Label(s): OBSOLETE: Susceptibility to adverse reaction due to nortriptyline treatment + 'OBSOLETE: Susceptibility to adverse reaction due to nortriptyline treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_622925 Label(s): X-linked severe syndromic thoracic aortic aneurysm and dissection + 'X-linked severe syndromic thoracic aortic aneurysm and dissection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome and Marfan-related disorders' + 'X-linked severe syndromic thoracic aortic aneurysm and dissection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'X-linked severe syndromic thoracic aortic aneurysm and dissection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_240977 Label(s): OBSOLETE: Susceptibility to adverse reaction due to methotrexate treatment + 'OBSOLETE: Susceptibility to adverse reaction due to methotrexate treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Methotrexate toxicity' Class: http://www.orpha.net/ORDO/Orphanet_221117 Label(s): Gerstmann syndrome + 'Gerstmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_99654 Label(s): OBSOLETE: Fibrocalculous pancreatopathy + 'OBSOLETE: Fibrocalculous pancreatopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Tropical pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_240973 Label(s): OBSOLETE: Susceptibility to adverse reaction due to irinotecan treatment + 'OBSOLETE: Susceptibility to adverse reaction due to irinotecan treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of irinotecan toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240971 Label(s): OBSOLETE: Susceptibility to adverse reaction due to imipramine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to imipramine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_98554 Label(s): OBSOLETE: Major induction processes eye anomaly + 'OBSOLETE: Major induction processes eye anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_99657 Label(s): Primary dystonia, DYT2 type + 'Primary dystonia, DYT2 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_88619 Label(s): Familial acute necrotizing encephalopathy + 'Familial acute necrotizing encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_239 Label(s): Dyggve-Melchior-Clausen disease + 'Dyggve-Melchior-Clausen disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Dyggve-Melchior-Clausen disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dyggve-Melchior-Clausen disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_238 Label(s): Digestive duplication + 'Digestive duplication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_237 Label(s): Duplication of urethra + 'Duplication of urethra' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic renal or urinary tract malformation' + 'Duplication of urethra' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' + 'Duplication of urethra' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of male and female' Class: http://www.orpha.net/ORDO/Orphanet_236 Label(s): Trisomy 9p + 'Trisomy 9p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Trisomy 9p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy/tetrasomy of the short arm of chromosome 9' + 'Trisomy 9p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Trisomy 9p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_235 Label(s): Dubowitz syndrome + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_234 Label(s): Dubin-Johnson syndrome + 'Dubin-Johnson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of bilirubin metabolism and excretion' + 'Dubin-Johnson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_233 Label(s): Duane retraction syndrome + 'Duane retraction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial nerve and nuclear aplasia' + 'Duane retraction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Duane retraction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_231 Label(s): Dracunculiasis + 'Dracunculiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filariasis' Class: http://www.orpha.net/ORDO/Orphanet_230 Label(s): Dopamine beta-hydroxylase deficiency + 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic primary orthostatic hypotension' + 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary orthostatic hypotension' + 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of catecholamine synthesis' Class: http://www.orpha.net/ORDO/Orphanet_99777 Label(s): Achalasia-alacrimia syndrome + 'Achalasia-alacrimia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Triple A syndrome' Class: http://www.orpha.net/ORDO/Orphanet_615954 Label(s): Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome + 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_240969 Label(s): OBSOLETE: Susceptibility to adverse reaction due to efavirenz treatment + 'OBSOLETE: Susceptibility to adverse reaction due to efavirenz treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of efavirenz toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240965 Label(s): OBSOLETE: Susceptibility to adverse reaction due to clomipramine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to clomipramine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_221106 Label(s): OBSOLETE: Isolated facial myokymia + 'OBSOLETE: Isolated facial myokymia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Acquired peripheral movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_240963 Label(s): OBSOLETE: Susceptibility to adverse reaction due to capecitabine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to capecitabine treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of 5-fluorouracil toxicity' Class: http://www.orpha.net/ORDO/Orphanet_228243 Label(s): Elastofibroma dorsi + 'Elastofibroma dorsi' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_240961 Label(s): OBSOLETE: Susceptibility to adverse reaction due to atorvastatin treatment + 'OBSOLETE: Susceptibility to adverse reaction due to atorvastatin treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_263435 Label(s): Congenital smooth muscle hamartoma + 'Congenital smooth muscle hamartoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_229 Label(s): Familial aortic dissection + 'Familial aortic dissection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_226 Label(s): Dihydropteridine reductase deficiency + 'Dihydropteridine reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperphenylalaninemia due to tetrahydrobiopterin deficiency' Class: http://www.orpha.net/ORDO/Orphanet_231080 Label(s): High-grade dysplasia in patients with Barrett esophagus + 'High-grade dysplasia in patients with Barrett esophagus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_223 Label(s): Nephrogenic diabetes insipidus + 'Nephrogenic diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Nephrogenic diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_221 Label(s): Dermatomyositis + 'Dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic disease with skin involvement' + 'Dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic inflammatory myopathy' + 'Dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_220 Label(s): Denys-Drash syndrome + 'Denys-Drash syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Denys-Drash syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Denys-Drash syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'Denys-Drash syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_240955 Label(s): OBSOLETE: Susceptibility to adverse reaction due to 5-fluorouracil treatment + 'OBSOLETE: Susceptibility to adverse reaction due to 5-fluorouracil treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of 5-fluorouracil toxicity' Class: http://www.orpha.net/ORDO/Orphanet_280671 Label(s): Megaconial congenital muscular dystrophy + 'Megaconial congenital muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' + 'Megaconial congenital muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' Class: http://www.orpha.net/ORDO/Orphanet_240953 Label(s): OBSOLETE: Resistance to warfarine in venous thrombosis and atrial fibrillation + 'OBSOLETE: Resistance to warfarine in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240951 Label(s): OBSOLETE: Resistance to venlafaxine in the treatment of depression + 'OBSOLETE: Resistance to venlafaxine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_219 Label(s): Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 + 'Delta-sarcoglycan-related limb-girdle muscular dystrophy R6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Delta-sarcoglycan-related limb-girdle muscular dystrophy R6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromuscular disease with dilated cardiomyopathy' + 'Delta-sarcoglycan-related limb-girdle muscular dystrophy R6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of delta-sarcoglycan' Class: http://www.orpha.net/ORDO/Orphanet_218 Label(s): Darier disease + 'Darier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' + 'Darier disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_215 Label(s): Congenital stationary night blindness + 'Congenital stationary night blindness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_214 Label(s): Cystinuria + 'Cystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Cystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Cystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of amino acid absorption and transport' + 'Cystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_213 Label(s): Cystinosis + 'Cystinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lysosomal amino acid transport' Class: http://www.orpha.net/ORDO/Orphanet_212 Label(s): Cystathioninuria + 'Cystathioninuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of methionine cycle and sulfur amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_211 Label(s): Familial cylindromatosis + 'Familial cylindromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brooke-Spiegler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210 Label(s): Cyclosporosis + 'Cyclosporosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_99798 Label(s): Oligodontia + 'Oligodontia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontal or periodontal disorder' + 'Oligodontia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_499107 Label(s): Idiopathic optic perineuritis + 'Idiopathic optic perineuritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune/inflammatory optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_240949 Label(s): OBSOLETE: Resistance to trimipramine in the treatment of depression + 'OBSOLETE: Resistance to trimipramine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_280663 Label(s): Hermansky-Pudlak syndrome type 9 + 'Hermansky-Pudlak syndrome type 9' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hermansky-Pudlak syndrome due to BLOC-1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_240945 Label(s): OBSOLETE: Resistance to tacrolimus in transplantation + 'OBSOLETE: Resistance to tacrolimus in transplantation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Tacrolimus dose selection' Class: http://www.orpha.net/ORDO/Orphanet_601018 Label(s): Non-syndromic anorectal malformation with rectal atresia + 'Non-syndromic anorectal malformation with rectal atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_240943 Label(s): OBSOLETE: Resistance to phenprocoumon in venous thrombosis and atrial fibrillation + 'OBSOLETE: Resistance to phenprocoumon in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240941 Label(s): OBSOLETE: Resistance to nortripilline in the treatment of depression + 'OBSOLETE: Resistance to nortripilline in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_505248 Label(s): Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders + 'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' + 'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_263458 Label(s): Hyperinsulinism due to INSR deficiency + 'Hyperinsulinism due to INSR deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_505242 Label(s): Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome + 'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculomotor apraxia' + 'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of zinc metabolism and transport' + 'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_207 Label(s): Crouzon syndrome + 'Crouzon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniostenosis with strabismus' + 'Crouzon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Crouzon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniofacial anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_205 Label(s): Crigler-Najjar syndrome + 'Crigler-Najjar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of bilirubin metabolism and excretion' + 'Crigler-Najjar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Crigler-Najjar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_204 Label(s): Sporadic Creutzfeldt-Jakob disease + 'Sporadic Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Sporadic Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sporadic human prion disease' Class: http://www.orpha.net/ORDO/Orphanet_201 Label(s): Cowden syndrome + 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal polyposis syndrome' + 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PTEN hamartoma tumor syndrome' + 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited gynecological cancer-predisposing syndrome' + 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic digestive tract tumor' Class: http://www.orpha.net/ORDO/Orphanet_200 Label(s): Isolated corpus callosum agenesis + 'Isolated corpus callosum agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_240939 Label(s): OBSOLETE: Resistance to imipramine in the treatment of depression + 'OBSOLETE: Resistance to imipramine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_99672 Label(s): Fried's tooth and nail syndrome + 'Fried's tooth and nail syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_280654 Label(s): Autosomal recessive nail dysplasia + 'Autosomal recessive nail dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_280651 Label(s): Acrodysostosis with multiple hormone resistance + 'Acrodysostosis with multiple hormone resistance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic polyendocrinopathy' + 'Acrodysostosis with multiple hormone resistance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Acrodysostosis with multiple hormone resistance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polyendocrinopathy' + 'Acrodysostosis with multiple hormone resistance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mandibulofacial dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_240933 Label(s): OBSOLETE: Resistance to clomipramine in the treatment of depression + 'OBSOLETE: Resistance to clomipramine in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240931 Label(s): OBSOLETE: Resistance to amitriptyline in the treatment of depression + 'OBSOLETE: Resistance to amitriptyline in the treatment of depression' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_505237 Label(s): Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome + 'Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_228277 Label(s): Familial anetoderma + 'Familial anetoderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dermis elastic tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_600691 Label(s): Combined deficiency of factor VII and factor X + 'Combined deficiency of factor VII and factor X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_3333 Label(s): Connective tissue dysplasia, Spellacy type + 'Connective tissue dysplasia, Spellacy type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Rothmund-Thomson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_596753 Label(s): VEXAS syndrome + 'VEXAS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'VEXAS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly medium-vessel vasculitis' + 'VEXAS syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1319 Label(s): Camptobrachydactyly + 'Camptobrachydactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_240929 Label(s): OBSOLETE: Resistance to acenocoumarol in venous thrombosis and atrial fibrillation + 'OBSOLETE: Resistance to acenocoumarol in venous thrombosis and atrial fibrillation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240927 Label(s): OBSOLETE: Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation + 'OBSOLETE: Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_240925 Label(s): OBSOLETE: Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation + 'OBSOLETE: Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_280640 Label(s): Occipital pachygyria and polymicrogyria + 'Occipital pachygyria and polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' Class: http://www.orpha.net/ORDO/Orphanet_63440 Label(s): OBSOLETE: Isolated oxycephaly + 'OBSOLETE: Isolated oxycephaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_505227 Label(s): Combined immunodeficiency due to GINS1 deficiency + 'Combined immunodeficiency due to GINS1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' Class: http://www.orpha.net/ORDO/Orphanet_261272 Label(s): 17q12 microduplication syndrome + '17q12 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_231040 Label(s): Familial generalized lentiginosis + 'Familial generalized lentiginosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Familial generalized lentiginosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_77296 Label(s): Morgagni-Stewart-Morel syndrome + 'Morgagni-Stewart-Morel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' + 'Morgagni-Stewart-Morel syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_77295 Label(s): Odontoleukodystrophy + 'Odontoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '4H leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_77293 Label(s): Chronic visceral acid sphingomyelinase deficiency + 'Chronic visceral acid sphingomyelinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Chronic visceral acid sphingomyelinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypercholesterolemia' + 'Chronic visceral acid sphingomyelinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acid sphingomyelinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_121292 Label(s): EGF containing fibulin extracellular matrix protein 1 + 'EGF containing fibulin extracellular matrix protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_208441 Label(s): Bilateral parasagittal parieto-occipital polymicrogyria + 'Bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bilateral polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_410210 Label(s): Thailand - 'Thailand' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_399081 Label(s): KLHL9-related early-onset distal myopathy + 'KLHL9-related early-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_79499 Label(s): Autosomal dominant deafness-onychodystrophy syndrome + 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Deafness-onychodystrophy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240915 Label(s): OBSOLETE: Trimipramine toxicity + 'OBSOLETE: Trimipramine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_98582 Label(s): OBSOLETE: Benign tumor of palpebral epidermis + 'OBSOLETE: Benign tumor of palpebral epidermis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_399086 Label(s): Finnish upper limb-onset distal myopathy + 'Finnish upper limb-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_240911 Label(s): OBSOLETE: Satracurium toxicity + 'OBSOLETE: Satracurium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_79493 Label(s): Brooke-Spiegler syndrome + 'Brooke-Spiegler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Brooke-Spiegler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_79492 Label(s): Pili gemini + 'Pili gemini' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_505216 Label(s): 3-methylglutaconic aciduria type 9 + '3-methylglutaconic aciduria type 9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' + '3-methylglutaconic aciduria type 9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + '3-methylglutaconic aciduria type 9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + '3-methylglutaconic aciduria type 9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '3-methylglutaconic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_79490 Label(s): Microcystic lymphatic malformation + 'Microcystic lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Common cystic lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_231031 Label(s): Erythema palmare hereditarium + 'Erythema palmare hereditarium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified genetic skin disorder' Class: http://www.orpha.net/ORDO/Orphanet_231512 Label(s): Hermansky-Pudlak syndrome due to BLOC-2 deficiency + 'Hermansky-Pudlak syndrome due to BLOC-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hermansky-Pudlak syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251365 Label(s): Sickle cell-hemoglobin C disease syndrome + 'Sickle cell-hemoglobin C disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sickle cell disease associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_280628 Label(s): Familial progressive hyper- and hypopigmentation + 'Familial progressive hyper- and hypopigmentation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pigmentation anomaly of the skin' + 'Familial progressive hyper- and hypopigmentation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic pigmentation anomaly of the skin' Class: http://www.orpha.net/ORDO/Orphanet_240909 Label(s): OBSOLETE: Rosuvastatin toxicity + 'OBSOLETE: Rosuvastatin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240907 Label(s): OBSOLETE: Rocuronium toxicity + 'OBSOLETE: Rocuronium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_79489 Label(s): Macrocystic lymphatic malformation + 'Macrocystic lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Common cystic lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_2899 Label(s): Brachyolmia-amelogenesis imperfecta syndrome + 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brachyolmia' + 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_240903 Label(s): OBSOLETE: Pravastatin toxicity + 'OBSOLETE: Pravastatin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_2897 Label(s): Pityriasis rubra pilaris + 'Pityriasis rubra pilaris' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic erythrokeratoderma' + 'Pityriasis rubra pilaris' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Erythrokeratoderma' Class: http://www.orpha.net/ORDO/Orphanet_79484 Label(s): Phakomatosis cesiomarmorata + 'Phakomatosis cesiomarmorata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Phakomatosis pigmentovascularis' Class: http://www.orpha.net/ORDO/Orphanet_79483 Label(s): Phakomatosis cesioflammea + 'Phakomatosis cesioflammea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Phakomatosis pigmentovascularis' Class: http://www.orpha.net/ORDO/Orphanet_79482 Label(s): Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome + 'Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Primary non-essential cutis verticis gyrata' Class: http://www.orpha.net/ORDO/Orphanet_600663 Label(s): NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance + 'NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pervasive developmental disorder' + 'NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare sleep disorder' Class: http://www.orpha.net/ORDO/Orphanet_79480 Label(s): Pemphigus erythematosus + 'Pemphigus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial pemphigus' Class: http://www.orpha.net/ORDO/Orphanet_2891 Label(s): Pili torti-developmental delay-neurological abnormalities syndrome + 'Pili torti-developmental delay-neurological abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_2890 Label(s): Pili torti-onychodysplasia syndrome + 'Pili torti-onychodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_399293 Label(s): Osteonecrosis of the jaw + 'Osteonecrosis of the jaw' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_37559 Label(s): Acquired kinky hair syndrome + 'Acquired kinky hair syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_37553 Label(s): Andersen-Tawil syndrome + 'Andersen-Tawil syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic periodic paralysis' + 'Andersen-Tawil syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' + 'Andersen-Tawil syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Periodic paralysis' + 'Andersen-Tawil syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic potassium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_280615 Label(s): Hemoglobinopathy Toms River + 'Hemoglobinopathy Toms River' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hemoglobinopathy' + 'Hemoglobinopathy Toms River' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_410231 Label(s): Viet Nam - 'Viet Nam' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_79479 Label(s): Pemphigus vegetans + 'Pemphigus vegetans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune bullous skin disease' Class: http://www.orpha.net/ORDO/Orphanet_79478 Label(s): Griscelli syndrome type 3 + 'Griscelli syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Griscelli syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79477 Label(s): Griscelli syndrome type 2 + 'Griscelli syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with hypopigmentation' + 'Griscelli syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Griscelli syndrome' + 'Griscelli syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Griscelli syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' + 'Griscelli syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_79476 Label(s): Griscelli syndrome type 1 + 'Griscelli syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Griscelli syndrome' + 'Griscelli syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Griscelli syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brain inflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_79474 Label(s): Atypical Werner syndrome + 'Atypical Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Atypical Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with premature aging' + 'Atypical Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79473 Label(s): Porphyria variegata + 'Porphyria variegata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute hepatic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_2884 Label(s): Piebaldism + 'Piebaldism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypopigmentation of the skin' + 'Piebaldism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hypopigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_595356 Label(s): Localized dystrophic epidermolysis bullosa + 'Localized dystrophic epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_2881 Label(s): Cutaneous photosensitivity-lethal colitis syndrome + 'Cutaneous photosensitivity-lethal colitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_2880 Label(s): Phosphoenolpyruvate carboxykinase deficiency + 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gluconeogenesis disorder' Class: http://www.orpha.net/ORDO/Orphanet_231013 Label(s): Congenital trigeminal anesthesia + 'Congenital trigeminal anesthesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cranial nerve involvement' + 'Congenital trigeminal anesthesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cranial nerve involvement' + 'Congenital trigeminal anesthesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_52994 Label(s): Orbital leiomyoma + 'Orbital leiomyoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_232 Label(s): Sickle cell anemia + 'Sickle cell anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hematological disorder with renal involvement' + 'Sickle cell anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary disease with avascular necrosis' + 'Sickle cell anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'Sickle cell anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sickle cell disease and related diseases' Class: http://www.orpha.net/ORDO/Orphanet_442835 Label(s): Non-specific early-onset epileptic encephalopathy + 'Non-specific early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Non-specific early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' + 'Non-specific early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect' + 'Non-specific early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' + 'Non-specific early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic calcium channel defect' + 'Non-specific early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' + 'Non-specific early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_77260 Label(s): Gaucher disease type 2 + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gaucher disease' + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral lipidosis with dementia' + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis with epilepsy' + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_294939 Label(s): OBSOLETE: Preaxial polydactyly of fingers + 'OBSOLETE: Preaxial polydactyly of fingers' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_85278 Label(s): Christianson syndrome + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked cerebellar ataxia' + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_79468 Label(s): Acanthokeratolytic verrucous nevus + 'Acanthokeratolytic verrucous nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Linear verrucous nevus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79467 Label(s): Verrucous nevus + 'Verrucous nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Linear verrucous nevus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_294998 Label(s): OBSOLETE: Brachydactyly of toes + 'OBSOLETE: Brachydactyly of toes' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_2875 Label(s): Phakomatosis pigmentovascularis + 'Phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_2872 Label(s): Cardiocranial syndrome, Pfeiffer type + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cardiocranial syndrome, Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2871 Label(s): Pfeiffer-Palm-Teller syndrome + 'Pfeiffer-Palm-Teller syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pfeiffer-Palm-Teller syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_294990 Label(s): OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb + 'OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_562559 Label(s): Anterior maxillary protrusion-strabismus-intellectual disability syndrome + 'Anterior maxillary protrusion-strabismus-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Anterior maxillary protrusion-strabismus-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Anterior maxillary protrusion-strabismus-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Anterior maxillary protrusion-strabismus-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Anterior maxillary protrusion-strabismus-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Anterior maxillary protrusion-strabismus-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic odontologic disease' Class: http://www.orpha.net/ORDO/Orphanet_77258 Label(s): Trichorhinophalangeal syndrome type 1 and 3 + 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Trichorhinophalangeal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169799 Label(s): Mild hemophilia B + 'Mild hemophilia B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemophilia B' Class: http://www.orpha.net/ORDO/Orphanet_169796 Label(s): Moderate hemophilia B + 'Moderate hemophilia B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemophilia B' Class: http://www.orpha.net/ORDO/Orphanet_169793 Label(s): Severe hemophilia B + 'Severe hemophilia B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemophilia B' Class: http://www.orpha.net/ORDO/Orphanet_320385 Label(s): Hereditary sensory and autonomic neuropathy due to TECPR2 mutation + 'Hereditary sensory and autonomic neuropathy due to TECPR2 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hereditary sensory and autonomic neuropathy due to TECPR2 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Hereditary sensory and autonomic neuropathy due to TECPR2 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_79459 Label(s): OBSOLETE: Follicular atrophoderma-basal cell carcinoma + 'OBSOLETE: Follicular atrophoderma-basal cell carcinoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Bazex-Dupré-Christol syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79458 Label(s): Oley syndrome + 'Oley syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Bazex-Dupré-Christol syndrome' Class: http://www.orpha.net/ORDO/Orphanet_247598 Label(s): Neonatal intrahepatic cholestasis due to citrin deficiency + 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Citrin deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79455 Label(s): Cutaneous mastocytoma + 'Cutaneous mastocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutaneous mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_2866 Label(s): Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome + 'Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_2865 Label(s): Short stature-webbed neck-heart disease syndrome + 'Short stature-webbed neck-heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Short stature-webbed neck-heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_79452 Label(s): Milroy disease + 'Milroy disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital primary lymphedema without systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_2863 Label(s): Short stature-wormian bones-dextrocardia syndrome + 'Short stature-wormian bones-dextrocardia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Short stature-wormian bones-dextrocardia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_79450 Label(s): Non-hereditary congenital primary lymphedema + 'Non-hereditary congenital primary lymphedema' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Milroy disease' Class: http://www.orpha.net/ORDO/Orphanet_2861 Label(s): OBSOLETE: Short stature-microcephaly-heart defect syndrome + 'OBSOLETE: Short stature-microcephaly-heart defect syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2860 Label(s): OBSOLETE: Preeyasombat-Varavithya syndrome + 'OBSOLETE: Preeyasombat-Varavithya syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_294981 Label(s): Congenital absence of both lower leg and foot + 'Congenital absence of both lower leg and foot' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complete hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_404473 Label(s): Severe intellectual disability-progressive spastic diplegia syndrome + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_77242 Label(s): OBSOLETE: Lymphedema tarda + 'OBSOLETE: Lymphedema tarda' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Meige disease' Class: http://www.orpha.net/ORDO/Orphanet_77241 Label(s): OBSOLETE: Lymphedema praecox + 'OBSOLETE: Lymphedema praecox' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Meige disease' Class: http://www.orpha.net/ORDO/Orphanet_33110 Label(s): Autosomal agammaglobulinemia + 'Autosomal agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated agammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_357332 Label(s): Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome + 'Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_79447 Label(s): X-linked lethal multiple pterygium syndrome + 'X-linked lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple pterygium syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79446 Label(s): Multiple pterygium syndrome, Aslan type + 'Multiple pterygium syndrome, Aslan type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Bartsocas-Papas syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79445 Label(s): Pseudopseudohypoparathyroidism + 'Pseudopseudohypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_79444 Label(s): Pseudohypoparathyroidism type 1C + 'Pseudohypoparathyroidism type 1C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_247585 Label(s): Citrullinemia type II + 'Citrullinemia type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Citrullinemia type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Citrin deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2854 Label(s): Fuhrmann syndrome + 'Fuhrmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Fuhrmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Fuhrmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Fuhrmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_294973 Label(s): Humeral agenesis/hypoplasia + 'Humeral agenesis/hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intercalary limb defects' Class: http://www.orpha.net/ORDO/Orphanet_294971 Label(s): Tetra-amelia + 'Tetra-amelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amelia' Class: http://www.orpha.net/ORDO/Orphanet_565612 Label(s): Triglyceride deposit cardiomyovasculopathy + 'Triglyceride deposit cardiomyovasculopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for heart transplant' + 'Triglyceride deposit cardiomyovasculopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neutral lipid storage disease' + 'Triglyceride deposit cardiomyovasculopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cardiac disease' Class: http://www.orpha.net/ORDO/Orphanet_33108 Label(s): Lethal multiple pterygium syndrome + 'Lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple pterygium syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178536 Label(s): Primary cutaneous marginal zone B-cell lymphoma + 'Primary cutaneous marginal zone B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Indolent primary cutaneous B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_566943 Label(s): Mueller-Weiss syndrome + 'Mueller-Weiss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteonecrosis' Class: http://www.orpha.net/ORDO/Orphanet_357329 Label(s): Combined immunodeficiency due to IL21R deficiency + 'Combined immunodeficiency due to IL21R deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_166412 Label(s): Hot water reflex epilepsy + 'Hot water reflex epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Reflex epilepsy' + 'Hot water reflex epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_557064 Label(s): Neonatal epileptic encephalopathy due to glutaminase deficiency + 'Neonatal epileptic encephalopathy due to glutaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' + 'Neonatal epileptic encephalopathy due to glutaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glutamine metabolism' + 'Neonatal epileptic encephalopathy due to glutaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_2849 Label(s): Perlman syndrome + 'Perlman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Perlman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Perlman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2847 Label(s): Pericardial and diaphragmatic defect + 'Pericardial and diaphragmatic defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic developmental defect during embryogenesis' + 'Pericardial and diaphragmatic defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_79433 Label(s): Oculocutaneous albinism type 3 + 'Oculocutaneous albinism type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism' Class: http://www.orpha.net/ORDO/Orphanet_79432 Label(s): Oculocutaneous albinism type 2 + 'Oculocutaneous albinism type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism' Class: http://www.orpha.net/ORDO/Orphanet_79431 Label(s): Oculocutaneous albinism type 1A + 'Oculocutaneous albinism type 1A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism type 1' Class: http://www.orpha.net/ORDO/Orphanet_79430 Label(s): Hermansky-Pudlak syndrome + 'Hermansky-Pudlak syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lysosomal-related organelles' + 'Hermansky-Pudlak syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dense granule disease' + 'Hermansky-Pudlak syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic oculocutaneous albinism' Class: http://www.orpha.net/ORDO/Orphanet_2841 Label(s): Familial benign chronic pemphigus + 'Familial benign chronic pemphigus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic epidermal disorder' + 'Familial benign chronic pemphigus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_2840 Label(s): Pelvic dysplasia-arthrogryposis of lower limbs syndrome + 'Pelvic dysplasia-arthrogryposis of lower limbs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' + 'Pelvic dysplasia-arthrogryposis of lower limbs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_250831 Label(s): Logopenic progressive aphasia + 'Logopenic progressive aphasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary progressive aphasia' Class: http://www.orpha.net/ORDO/Orphanet_178544 Label(s): Primary cutaneous diffuse large B-cell lymphoma, leg type + 'Primary cutaneous diffuse large B-cell lymphoma, leg type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive primary cutaneous B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_562528 Label(s): Congenital limbs-face contractures-hypotonia-developmental delay syndrome + 'Congenital limbs-face contractures-hypotonia-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital limbs-face contractures-hypotonia-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic sodium channel defect' + 'Congenital limbs-face contractures-hypotonia-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' + 'Congenital limbs-face contractures-hypotonia-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_289499 Label(s): Congenital cataract microcornea with corneal opacity + 'Congenital cataract microcornea with corneal opacity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Congenital cataract microcornea with corneal opacity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_2070 Label(s): Eosinophilic gastroenteritis + 'Eosinophilic gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary eosinophilic gastrointestinal disease' + 'Eosinophilic gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_289494 Label(s): 4H leukodystrophy + '4H leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_557056 Label(s): Spastic ataxia-dysarthria due to glutaminase deficiency + 'Spastic ataxia-dysarthria due to glutaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glutamine metabolism' + 'Spastic ataxia-dysarthria due to glutaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive spastic ataxia' + 'Spastic ataxia-dysarthria due to glutaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_466801 Label(s): LIMS2-related limb-girdle muscular dystrophy + 'LIMS2-related limb-girdle muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'LIMS2-related limb-girdle muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromuscular disease with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_79429 Label(s): OBSOLETE: Familial spinal neurofibromatosis + 'OBSOLETE: Familial spinal neurofibromatosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neurofibromatosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_79428 Label(s): OBSOLETE: Familial segmental neurofibromatosis + 'OBSOLETE: Familial segmental neurofibromatosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neurofibromatosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_2839 Label(s): Pelvis-shoulder dysplasia + 'Pelvis-shoulder dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Pelvis-shoulder dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_2838 Label(s): Renal caliceal diverticuli-deafness syndrome + 'Renal caliceal diverticuli-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Renal caliceal diverticuli-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_2837 Label(s): Pellagra-like skin rash-neurological manifestations syndrome + 'Pellagra-like skin rash-neurological manifestations syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Xeroderma pigmentosum-Cockayne syndrome complex' Class: http://www.orpha.net/ORDO/Orphanet_2836 Label(s): PEHO syndrome + 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' + 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2835 Label(s): Pectus excavatum-macrocephaly-dysplastic nails syndrome + 'Pectus excavatum-macrocephaly-dysplastic nails syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Pectus excavatum-macrocephaly-dysplastic nails syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Pectus excavatum-macrocephaly-dysplastic nails syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2834 Label(s): Wrinkly skin syndrome + 'Wrinkly skin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cutis laxa type 2A' Class: http://www.orpha.net/ORDO/Orphanet_2832 Label(s): Short tarsus-absence of lower eyelashes syndrome + 'Short tarsus-absence of lower eyelashes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Short tarsus-absence of lower eyelashes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2831 Label(s): Rhizomelic dysplasia, Patterson-Lowry type + 'Rhizomelic dysplasia, Patterson-Lowry type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2500 Label(s): Acrogeria + 'Acrogeria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' Class: http://www.orpha.net/ORDO/Orphanet_2650 Label(s): OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome + 'OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2611 Label(s): Linear verrucous nevus syndrome + 'Linear verrucous nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_2612 Label(s): Linear nevus sebaceus syndrome + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' Class: http://www.orpha.net/ORDO/Orphanet_289483 Label(s): Intellectual disability-alacrima-achalasia syndrome + 'Intellectual disability-alacrima-achalasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital alacrima' + 'Intellectual disability-alacrima-achalasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_103907 Label(s): Chronic diarrhea due to glucoamylase deficiency + 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital intestinal disease due to an enzymatic defect' + 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of carbohydrate absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_166430 Label(s): Micturation-induced seizures + 'Micturation-induced seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Reflex epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_35737 Label(s): Morning glory disc anomaly + 'Morning glory disc anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital optic disc excavation of genetic origin' + 'Morning glory disc anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Morning glory disc anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital optic disc excavation' + 'Morning glory disc anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_2829 Label(s): Partington-Anderson syndrome + 'Partington-Anderson syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cohen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2828 Label(s): Young-onset Parkinson disease + 'Young-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Young-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Young-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary orthostatic hypotension' + 'Young-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic primary orthostatic hypotension' Class: http://www.orpha.net/ORDO/Orphanet_79414 Label(s): Woolly hair nevus + 'Woolly hair nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_2825 Label(s): PARC syndrome + 'PARC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'PARC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PARC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2824 Label(s): Paraplegia-intellectual disability-hyperkeratosis syndrome + 'Paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2823 Label(s): OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome + 'OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' Class: http://www.orpha.net/ORDO/Orphanet_2822 Label(s): Autosomal recessive spastic paraplegia type 11 + 'Autosomal recessive spastic paraplegia type 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2821 Label(s): Spastic paraplegia-neuropathy-poikiloderma syndrome + 'Spastic paraplegia-neuropathy-poikiloderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_2820 Label(s): Spastic paraplegia-nephritis-deafness syndrome + 'Spastic paraplegia-nephritis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Spastic paraplegia-nephritis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' + 'Spastic paraplegia-nephritis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2513 Label(s): Microcephaly-albinism-digital anomalies syndrome + 'Microcephaly-albinism-digital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly-albinism-digital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_289478 Label(s): Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome + 'Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome' + 'Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_2515 Label(s): Microcephaly-cardiomyopathy syndrome + 'Microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' + 'Microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2516 Label(s): Microcephaly-cardiac defect-lung malsegmentation syndrome + 'Microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2819 Label(s): Spastic paraplegia-facial-cutaneous lesions syndrome + 'Spastic paraplegia-facial-cutaneous lesions syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_79406 Label(s): Late-onset junctional epidermolysis bullosa + 'Late-onset junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Late-onset junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Junctional epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_79405 Label(s): Junctional epidermolysis bullosa inversa + 'Junctional epidermolysis bullosa inversa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Junctional epidermolysis bullosa inversa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Junctional epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_247546 Label(s): Acute neonatal citrullinemia type I + 'Acute neonatal citrullinemia type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Citrullinemia type I' Class: http://www.orpha.net/ORDO/Orphanet_79403 Label(s): Junctional epidermolysis bullosa with pyloric atresia + 'Junctional epidermolysis bullosa with pyloric atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Junctional epidermolysis bullosa' + 'Junctional epidermolysis bullosa with pyloric atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_79402 Label(s): Intermediate generalized junctional epidermolysis bullosa + 'Intermediate generalized junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Junctional epidermolysis bullosa' + 'Intermediate generalized junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_79401 Label(s): PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement + 'PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex without extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_2812 Label(s): Parana hard skin syndrome + 'Parana hard skin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified genetic skin disorder' Class: http://www.orpha.net/ORDO/Orphanet_2524 Label(s): Pontocerebellar hypoplasia type 2 + 'Pontocerebellar hypoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spinal muscular atrophy associated with central nervous system anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2526 Label(s): Microcephaly-lymphedema-chorioretinopathy syndrome + 'Microcephaly-lymphedema-chorioretinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital primary lymphedema without systemic or visceral involvement' + 'Microcephaly-lymphedema-chorioretinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Microcephaly-lymphedema-chorioretinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Microcephaly-lymphedema-chorioretinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic chorioretinal dystrophy' + 'Microcephaly-lymphedema-chorioretinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_289465 Label(s): Isolated congenital adermatoglyphia + 'Isolated congenital adermatoglyphia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' Class: http://www.orpha.net/ORDO/Orphanet_325345 Label(s): 46,XY ovotesticular disorder of sex development + '46,XY ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + '46,XY ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gonadal dysgenesis of gynecological interest' + '46,XY ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of gonadal development' Class: http://www.orpha.net/ORDO/Orphanet_103918 Label(s): Tropical pancreatitis + 'Tropical pancreatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pancreatic disease' Class: http://www.orpha.net/ORDO/Orphanet_49042 Label(s): Dentinogenesis imperfecta + 'Dentinogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary dentin defect' Class: http://www.orpha.net/ORDO/Orphanet_2809 Label(s): Familial recurrent peripheral facial palsy + 'Familial recurrent peripheral facial palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2808 Label(s): Laryngeal abductor paralysis + 'Laryngeal abductor paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic larynx anomaly' + 'Laryngeal abductor paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2807 Label(s): Papilloma of choroid plexus + 'Papilloma of choroid plexus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Choroid plexus tumor' Class: http://www.orpha.net/ORDO/Orphanet_2806 Label(s): Subacute sclerosing leukoencephalitis + 'Subacute sclerosing leukoencephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic encephalitis' + 'Subacute sclerosing leukoencephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_2805 Label(s): Partial pancreatic agenesis + 'Partial pancreatic agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_2804 Label(s): W syndrome + 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' + 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2802 Label(s): X-linked sideroblastic anemia and spinocerebellar ataxia + 'X-linked sideroblastic anemia and spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unspecified mitochondrial disorder' + 'X-linked sideroblastic anemia and spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional sideroblastic anemia' + 'X-linked sideroblastic anemia and spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_2801 Label(s): Juvenile Paget disease + 'Juvenile Paget disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_2800 Label(s): Extramammary Paget disease + 'Extramammary Paget disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gynecological tumor' + 'Extramammary Paget disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_137783 Label(s): Lethal congenital contracture syndrome type 3 + 'Lethal congenital contracture syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal congenital contracture syndrome' + 'Lethal congenital contracture syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2535 Label(s): OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome + 'OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_2536 Label(s): Microcornea-glaucoma-absent frontal sinuses syndrome + 'Microcornea-glaucoma-absent frontal sinuses syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_420794 Label(s): Cono-spondylar dysplasia + 'Cono-spondylar dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Cono-spondylar dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Cono-spondylar dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Cono-spondylar dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cono-spondylar dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2538 Label(s): Microgastria-limb reduction defect syndrome + 'Microgastria-limb reduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microgastria-limb reduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic gastroduodenal malformation' Class: http://www.orpha.net/ORDO/Orphanet_445062 Label(s): Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome + 'Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' + 'Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' + 'Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_284395 Label(s): Well-differentiated fetal adenocarcinoma of the lung + 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bronchopulmonary tumor' Class: http://www.orpha.net/ORDO/Orphanet_409991 Label(s): Worldwide - 'Worldwide' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_268316 Label(s): Complication in hemodialysis + 'Complication in hemodialysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal disease' Class: http://www.orpha.net/ORDO/Orphanet_2626 Label(s): OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome + 'OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_247525 Label(s): Citrullinemia type I + 'Citrullinemia type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Citrullinemia' Class: http://www.orpha.net/ORDO/Orphanet_527276 Label(s): Encephalopathy due to mitochondrial and peroxisomal fission defect + 'Encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'Encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_247522 Label(s): Primary ciliary dyskinesia-retinitis pigmentosa syndrome + 'Primary ciliary dyskinesia-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Primary ciliary dyskinesia-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Primary ciliary dyskinesia-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_137776 Label(s): Lethal congenital contracture syndrome type 2 + 'Lethal congenital contracture syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal congenital contracture syndrome' Class: http://www.orpha.net/ORDO/Orphanet_33543 Label(s): Kleine-Levin syndrome + 'Kleine-Levin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare sleep disorder' Class: http://www.orpha.net/ORDO/Orphanet_420789 Label(s): Autoimmune encephalopathy with parasomnia and obstructive sleep apnea + 'Autoimmune encephalopathy with parasomnia and obstructive sleep apnea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease with psychiatric involvement' + 'Autoimmune encephalopathy with parasomnia and obstructive sleep apnea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare sleep disorder' Class: http://www.orpha.net/ORDO/Orphanet_2543 Label(s): OBSOLETE: Microphthalmia-cataract syndrome + 'OBSOLETE: Microphthalmia-cataract syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_2547 Label(s): Microphthalmia-microtia-fetal akinesia syndrome + 'Microphthalmia-microtia-fetal akinesia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Microphthalmia-microtia-fetal akinesia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'Microphthalmia-microtia-fetal akinesia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Microphthalmia-microtia-fetal akinesia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2549 Label(s): Oculoauriculovertebral spectrum with radial defects + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant craniofacial involvement' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_457205 Label(s): Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome + 'Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' + 'Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_206583 Label(s): Adult polyglucosan body disease + 'Adult polyglucosan body disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glycogen branching enzyme deficiency' + 'Adult polyglucosan body disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2200 Label(s): Focal palmoplantar and gingival keratoderma + 'Focal palmoplantar and gingival keratoderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2665 Label(s): Congenital mesoblastic nephroma + 'Congenital mesoblastic nephroma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Congenital mesoblastic nephroma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tumor' Class: http://www.orpha.net/ORDO/Orphanet_66628 Label(s): Obesity due to congenital leptin deficiency + 'Obesity due to congenital leptin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature' + 'Obesity due to congenital leptin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_247511 Label(s): Autosomal dominant secondary polycythemia + 'Autosomal dominant secondary polycythemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital secondary polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_1145 Label(s): Infantile-onset X-linked spinal muscular atrophy + 'Infantile-onset X-linked spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked distal hereditary motor neuropathy' + 'Infantile-onset X-linked spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_2552 Label(s): Microsporidiosis + 'Microsporidiosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_2554 Label(s): Ear-patella-short stature syndrome + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Patellar dysostosis' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microcephalic primordial dwarfism' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2558 Label(s): Mikati-Najjar-Sahli syndrome + 'Mikati-Najjar-Sahli syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_529468 Label(s): Monoclonal mast cell activation syndrome + 'Monoclonal mast cell activation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of hematopoietic and lymphoid tissues' Class: http://www.orpha.net/ORDO/Orphanet_139399 Label(s): Adrenomyeloneuropathy + 'Adrenomyeloneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Adrenomyeloneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked adrenoleukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_90400 Label(s): Scleromyxedema without monoclonal gammopathy + 'Scleromyxedema without monoclonal gammopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atypical lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_73267 Label(s): Non-24-hour sleep-wake syndrome + 'Non-24-hour sleep-wake syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare sleep disorder' Class: http://www.orpha.net/ORDO/Orphanet_333084 Label(s): caspase recruitment domain family member 11 + 'caspase recruitment domain family member 11' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'CADINS disease' Class: http://www.orpha.net/ORDO/Orphanet_293633 Label(s): PYCR1-related De Barsy syndrome + 'PYCR1-related De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'De Barsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137754 Label(s): Neurological conditions associated with aminoacylase 1 deficiency + 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aminoacylase deficiency' + 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2564 Label(s): Tetramelic monodactyly + 'Tetramelic monodactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Tetramelic monodactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_445038 Label(s): 3-methylglutaconic aciduria type 7 + '3-methylglutaconic aciduria type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + '3-methylglutaconic aciduria type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '3-methylglutaconic aciduria' + '3-methylglutaconic aciduria type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + '3-methylglutaconic aciduria type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_457212 Label(s): Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome + 'Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic tremor disorder' + 'Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tremor disorder' + 'Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2569 Label(s): Moore-Federman syndrome + 'Moore-Federman syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Acromicric dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1349 Label(s): Mitochondrial DNA-related cardiomyopathy and hearing loss + 'Mitochondrial DNA-related cardiomyopathy and hearing loss' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Mitochondrial DNA-related cardiomyopathy and hearing loss' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_2637 Label(s): Microcephalic osteodysplastic primordial dwarfism type II + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microcephalic primordial dwarfism' + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2571 Label(s): X-linked immunoneurologic disorder + 'X-linked immunoneurologic disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_2575 Label(s): Cystic fibrosis-gastritis-megaloblastic anemia syndrome + 'Cystic fibrosis-gastritis-megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic gastro-esophageal disease' + 'Cystic fibrosis-gastritis-megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_2578 Label(s): Mayer-Rokitansky-Küster-Hauser syndrome type 2 + 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mayer-Rokitansky-Küster-Hauser syndrome' Class: http://www.orpha.net/ORDO/Orphanet_572428 Label(s): Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia + 'Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' + 'Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' Class: http://www.orpha.net/ORDO/Orphanet_569164 Label(s): Angiomatoid fibrous histiocytoma + 'Angiomatoid fibrous histiocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_449432 Label(s): IgG4-related submandibular gland disease + 'IgG4-related submandibular gland disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' + 'IgG4-related submandibular gland disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_569821 Label(s): Congenital primary lymphedema of Gordon + 'Congenital primary lymphedema of Gordon' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital primary lymphedema without systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_120204 Label(s): tumor protein p53 - 'tumor protein p53' SubClassOf 'major susceptibility factor in' some 'Adrenocortical carcinoma' - 'tumor protein p53' SubClassOf 'major susceptibility factor in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'tumor protein p53' SubClassOf 'disease-causing germline mutation(s) in' some 'Adrenocortical carcinoma' + 'tumor protein p53' SubClassOf 'biomarker tested in' some 'B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)' + 'tumor protein p53' SubClassOf 'disease-causing somatic mutation(s) in' some 'Adrenocortical carcinoma' + 'tumor protein p53' SubClassOf 'disease-causing somatic mutation(s) in' some 'Cushing disease' Class: http://www.orpha.net/ORDO/Orphanet_2580 Label(s): OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome + 'OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_171929 Label(s): Trisomy 10p + 'Trisomy 10p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 10' Class: http://www.orpha.net/ORDO/Orphanet_2583 Label(s): Mycetoma + 'Mycetoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mycosis' + 'Mycetoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_445018 Label(s): Combined immunodeficiency due to LRBA deficiency + 'Combined immunodeficiency due to LRBA deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to LRBA deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic autoimmune enteropathy' + 'Combined immunodeficiency due to LRBA deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic polyendocrinopathy' + 'Combined immunodeficiency due to LRBA deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polyendocrinopathy' Class: http://www.orpha.net/ORDO/Orphanet_2587 Label(s): Myeloperoxidase deficiency + 'Myeloperoxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional neutrophil defect' Class: http://www.orpha.net/ORDO/Orphanet_2588 Label(s): Myhre syndrome + 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' + 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2589 Label(s): Myoclonus-cerebellar ataxia-deafness syndrome + 'Myoclonus-cerebellar ataxia-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' + 'Myoclonus-cerebellar ataxia-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_420741 Label(s): RIDDLE syndrome + 'RIDDLE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' + 'RIDDLE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'RIDDLE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' Class: http://www.orpha.net/ORDO/Orphanet_293202 Label(s): Epithelioid sarcoma + 'Epithelioid sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_141099 Label(s): Proboscis lateralis + 'Proboscis lateralis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_141096 Label(s): Supernumerary nostril + 'Supernumerary nostril' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_64754 Label(s): Nevus comedonicus syndrome + 'Nevus comedonicus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'Nevus comedonicus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_141091 Label(s): Polyrrhinia + 'Polyrrhinia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2593 Label(s): Tubular aggregate myopathy + 'Tubular aggregate myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_2597 Label(s): Mitochondrial myopathy-lactic acidosis-deafness syndrome + 'Mitochondrial myopathy-lactic acidosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Mitochondrial myopathy-lactic acidosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unspecified mitochondrial disorder' + 'Mitochondrial myopathy-lactic acidosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_420733 Label(s): Combined oxidative phosphorylation defect type 21 + 'Combined oxidative phosphorylation defect type 21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Combined oxidative phosphorylation defect type 21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_255249 Label(s): Leigh syndrome with nephrotic syndrome + 'Leigh syndrome with nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Leigh syndrome with nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Leigh syndrome with nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leigh syndrome' + 'Leigh syndrome with nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Leigh syndrome with nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Coenzyme Q10 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_221098 Label(s): Glossopharyngeal neuralgia + 'Glossopharyngeal neuralgia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial neuralgia' Class: http://www.orpha.net/ORDO/Orphanet_141083 Label(s): Nasolacrimal duct cyst + 'Nasolacrimal duct cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lacrimal drainage system anomaly' + 'Nasolacrimal duct cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_221091 Label(s): Trigeminal neuralgia + 'Trigeminal neuralgia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial neuralgia' Class: http://www.orpha.net/ORDO/Orphanet_60040 Label(s): Megalencephaly-capillary malformation-polymicrogyria syndrome + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare capillary malformation with associated anomalies' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PIK3CA-related overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_457185 Label(s): Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome + 'Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Coenzyme Q10 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_420728 Label(s): Combined oxidative phosphorylation defect type 20 + 'Combined oxidative phosphorylation defect type 20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_508498 Label(s): Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome + 'Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3351 Label(s): Trichodental syndrome + 'Trichodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Trichodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Trichodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Trichodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_255235 Label(s): Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' Class: http://www.orpha.net/ORDO/Orphanet_449400 Label(s): IgG4-related aortitis + 'IgG4-related aortitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' + 'IgG4-related aortitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_141077 Label(s): Epignathus + 'Epignathus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' + 'Epignathus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal teratoma' Class: http://www.orpha.net/ORDO/Orphanet_182214 Label(s): OBSOLETE: Rare inflammatory eye disease + 'OBSOLETE: Rare inflammatory eye disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare ophthalmic disorder' Class: http://www.orpha.net/ORDO/Orphanet_542657 Label(s): Isolated hyperchlorhidrosis + 'Isolated hyperchlorhidrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermal appendage anomaly' + 'Isolated hyperchlorhidrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic epidermal appendage anomaly' Class: http://www.orpha.net/ORDO/Orphanet_101356 Label(s): OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome + 'OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_221083 Label(s): Hemifacial spasm + 'Hemifacial spasm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired peripheral movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_101351 Label(s): Familial isolated congenital asplenia + 'Familial isolated congenital asplenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic visceral malformation' + 'Familial isolated congenital asplenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other immunodeficiency syndromes due to defects in innate immunity' Class: http://www.orpha.net/ORDO/Orphanet_369913 Label(s): Combined oxidative phosphorylation defect type 17 + 'Combined oxidative phosphorylation defect type 17' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Combined oxidative phosphorylation defect type 17' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_294975 Label(s): Congenital absence of upper arm and forearm with hand present + 'Congenital absence of upper arm and forearm with hand present' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intercalary limb defects' Class: http://www.orpha.net/ORDO/Orphanet_70596 Label(s): Congenital Epstein-Barr virus infection + 'Congenital Epstein-Barr virus infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' + 'Congenital Epstein-Barr virus infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_70595 Label(s): Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome + 'Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ataxia neuropathy spectrum' + 'Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_70594 Label(s): Dopa-responsive dystonia due to sepiapterin reductase deficiency + 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dopa-responsive dystonia' + 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_70593 Label(s): Immunodeficiency due to selective anti-polysaccharide antibody deficiency + 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' Class: http://www.orpha.net/ORDO/Orphanet_70592 Label(s): Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency + 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_70591 Label(s): Chronic thromboembolic pulmonary hypertension + 'Chronic thromboembolic pulmonary hypertension' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary hypertension' Class: http://www.orpha.net/ORDO/Orphanet_70590 Label(s): Infantile apnea + 'Infantile apnea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_294977 Label(s): Congenital absence of thigh and lower leg with foot present + 'Congenital absence of thigh and lower leg with foot present' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intercalary limb defects' Class: http://www.orpha.net/ORDO/Orphanet_99807 Label(s): PEHO-like syndrome + 'PEHO-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' + 'PEHO-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_255229 Label(s): Navajo neurohepatopathy + 'Navajo neurohepatopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' Class: http://www.orpha.net/ORDO/Orphanet_499096 Label(s): Isolated optic neuritis + 'Isolated optic neuritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune/inflammatory optic neuropathy' + 'Isolated optic neuritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuroinflammatory or neuroimmunological disease' Class: http://www.orpha.net/ORDO/Orphanet_289916 Label(s): Vitamin B12-unresponsive methylmalonic acidemia type mut0 + 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vitamin B12-unresponsive methylmalonic acidemia' Class: http://www.orpha.net/ORDO/Orphanet_141067 Label(s): Cervicofacial fibrochondroma + 'Cervicofacial fibrochondroma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_221078 Label(s): Combined hyperactive dysfunction syndrome of the cranial nerves + 'Combined hyperactive dysfunction syndrome of the cranial nerves' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial neuralgia' Class: http://www.orpha.net/ORDO/Orphanet_95409 Label(s): Acute adrenal insufficiency + 'Acute adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_221074 Label(s): Marchiafava-Bignami disease + 'Marchiafava-Bignami disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_141061 Label(s): Commissural lip fistula + 'Commissural lip fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_542643 Label(s): Livedoid vasculopathy + 'Livedoid vasculopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Livedoid vasculopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-inflammatory vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_70589 Label(s): Bronchopulmonary dysplasia + 'Bronchopulmonary dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Bronchopulmonary dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_70588 Label(s): Meconium aspiration syndrome + 'Meconium aspiration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_199 Label(s): Cornelia de Lange syndrome + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pierre Robin syndrome associated with bone disease' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_198 Label(s): Occipital horn syndrome + 'Occipital horn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of copper metabolism' + 'Occipital horn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutis laxa' + 'Occipital horn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Occipital horn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_195 Label(s): Cat-eye syndrome + 'Cat-eye syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' + 'Cat-eye syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Cat-eye syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Cat-eye syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex chromosomal rearrangement' Class: http://www.orpha.net/ORDO/Orphanet_194 Label(s): OBSOLETE: Ocular coloboma + 'OBSOLETE: Ocular coloboma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_193 Label(s): Cohen syndrome + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' + 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_192 Label(s): Coffin-Lowry syndrome + 'Coffin-Lowry syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Coffin-Lowry syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Coffin-Lowry syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_191 Label(s): Cockayne syndrome + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Premature aging' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_190 Label(s): Coats disease + 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic congenital malformation of the eye with glaucoma as a major feature' + 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated vitreoretinopathy' + 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital malformation of the eye with glaucoma as a major feature' + 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic central nervous system and retinal vascular disease' + 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' + 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_255117 Label(s): OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness + 'OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant optic atrophy plus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_420702 Label(s): Autosomal recessive severe congenital neutropenia due to CSF3R deficiency + 'Autosomal recessive severe congenital neutropenia due to CSF3R deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_99819 Label(s): Familial gestational hyperthyroidism + 'Familial gestational hyperthyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Familial gestational hyperthyroidism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hyperthyroidism' Class: http://www.orpha.net/ORDO/Orphanet_2653 Label(s): Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome + 'Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_66662 Label(s): Extracutaneous mastocytoma + 'Extracutaneous mastocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_457246 Label(s): Clear cell sarcoma of kidney + 'Clear cell sarcoma of kidney' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Clear cell sarcoma of kidney' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tumor' + 'Clear cell sarcoma of kidney' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tumor' Class: http://www.orpha.net/ORDO/Orphanet_228387 Label(s): Spondylo-megaepiphyseal-metaphyseal dysplasia + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_101338 Label(s): OBSOLETE: Mediterranean spotted fever + 'OBSOLETE: Mediterranean spotted fever' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Boutonneuse fever' Class: http://www.orpha.net/ORDO/Orphanet_101337 Label(s): OBSOLETE: Marseilles fever + 'OBSOLETE: Marseilles fever' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Boutonneuse fever' Class: http://www.orpha.net/ORDO/Orphanet_101336 Label(s): OBSOLETE: Kenya tick typhus + 'OBSOLETE: Kenya tick typhus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Boutonneuse fever' Class: http://www.orpha.net/ORDO/Orphanet_101335 Label(s): OBSOLETE: Indian tick typhus + 'OBSOLETE: Indian tick typhus' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Boutonneuse fever' Class: http://www.orpha.net/ORDO/Orphanet_101334 Label(s): African tick typhus + 'African tick typhus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spotted fever rickettsiosis' Class: http://www.orpha.net/ORDO/Orphanet_93218 Label(s): OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis + 'OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_221061 Label(s): Familial cerebral cavernous malformation + 'Familial cerebral cavernous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare venous malformation' + 'Familial cerebral cavernous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic venous malformation' + 'Familial cerebral cavernous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Familial cerebral cavernous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_101330 Label(s): Porphyria cutanea tarda + 'Porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic hepatic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_70578 Label(s): Adult acute respiratory distress syndrome + 'Adult acute respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to adulthood' Class: http://www.orpha.net/ORDO/Orphanet_189 Label(s): Hidrotic ectodermal dysplasia + 'Hidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Hidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Hidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_188 Label(s): Systemic capillary leak syndrome + 'Systemic capillary leak syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_186 Label(s): Primary biliary cholangitis + 'Primary biliary cholangitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Primary biliary cholangitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_185 Label(s): Scimitar syndrome + 'Scimitar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Scimitar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary veins anomaly' + 'Scimitar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of the great arteries' Class: http://www.orpha.net/ORDO/Orphanet_184 Label(s): Cherubism + 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome of childhood' + 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome' + 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_183 Label(s): Eosinophilic granulomatosis with polyangiitis + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial rare disease with dilated cardiomyopathy' + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' + 'Eosinophilic granulomatosis with polyangiitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_182 Label(s): Chromomycosis + 'Chromomycosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_181 Label(s): X-linked hypohidrotic ectodermal dysplasia + 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypohidrotic ectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_180 Label(s): Choroideremia + 'Choroideremia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated chorioretinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_99827 Label(s): Crimean-Congo hemorrhagic fever + 'Crimean-Congo hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_99828 Label(s): Dengue fever + 'Dengue fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arbovirus fever' Class: http://www.orpha.net/ORDO/Orphanet_99829 Label(s): Yellow fever + 'Yellow fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' + 'Yellow fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arbovirus fever' Class: http://www.orpha.net/ORDO/Orphanet_478049 Label(s): Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome + 'Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified cardiomyopathy' + 'Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic cardiac disease' + 'Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_141046 Label(s): Cervical dermoid cyst + 'Cervical dermoid cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_95428 Label(s): COG8-CDG + 'COG8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'COG8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'COG8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Defect in conserved oligomeric Golgi complex' Class: http://www.orpha.net/ORDO/Orphanet_459353 Label(s): OBSOLETE: C1 inhibitor deficiency + 'OBSOLETE: C1 inhibitor deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal systemic lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_221054 Label(s): Acrocephalopolydactyly + 'Acrocephalopolydactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_96103 Label(s): Distal trisomy 11q + 'Distal trisomy 11q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 11' Class: http://www.orpha.net/ORDO/Orphanet_468641 Label(s): Chronic enteropathy associated with SLCO2A1 gene + 'Chronic enteropathy associated with SLCO2A1 gene' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' + 'Chronic enteropathy associated with SLCO2A1 gene' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_70568 Label(s): Post-transplant lymphoproliferative disease + 'Post-transplant lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Post-transplant lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-cell non-Hodgkin lymphoma' + 'Post-transplant lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency-associated lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_179 Label(s): Birdshot chorioretinopathy + 'Birdshot chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-infectious posterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_178 Label(s): Chordoma + 'Chordoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' + 'Chordoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' + 'Chordoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency of tumoral origin' + 'Chordoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neuroendocrine tumor' + 'Chordoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_177 Label(s): Rhizomelic chondrodysplasia punctata + 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chondrodysplasia punctata' + 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Musculoskeletal disease with cataract' + 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of plasmalogens biosynthesis' + 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peroxisomal disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_175 Label(s): Cartilage-hair hypoplasia + 'Cartilage-hair hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Cartilage-hair hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Cartilage-hair hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immuno-osseous dysplasia' + 'Cartilage-hair hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' + 'Cartilage-hair hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Cartilage-hair hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_174 Label(s): Metaphyseal chondrodysplasia, Schmid type + 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_173 Label(s): Cholera + 'Cholera' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_171 Label(s): Primary sclerosing cholangitis + 'Primary sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sclerosing cholangitis' Class: http://www.orpha.net/ORDO/Orphanet_170 Label(s): Woolly hair + 'Woolly hair' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_95430 Label(s): Congenital tracheomalacia + 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic tracheal anomaly' + 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tracheal anomaly' + 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_95433 Label(s): Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome + 'Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive syndromic cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_141037 Label(s): Fourth branchial cleft anomaly + 'Fourth branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_221046 Label(s): Poikiloderma with neutropenia + 'Poikiloderma with neutropenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary poikiloderma' + 'Poikiloderma with neutropenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_228302 Label(s): Carnitine palmitoyl transferase II deficiency, myopathic form + 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carnitine palmitoyltransferase II deficiency' Class: http://www.orpha.net/ORDO/Orphanet_221043 Label(s): Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome + 'Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-dystrophic myopathy' + 'Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary poikiloderma' + 'Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to adulthood' + 'Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic interstitial lung disease' Class: http://www.orpha.net/ORDO/Orphanet_141030 Label(s): Third branchial cleft anomaly + 'Third branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_1508 Label(s): Coxoauricular syndrome + 'Coxoauricular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_169 Label(s): Ringed hair disease + 'Ringed hair disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_168 Label(s): Loose anagen syndrome + 'Loose anagen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Loose anagen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_167 Label(s): Chédiak-Higashi syndrome + 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lysosomal-related organelles' + 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic immune deficiency with skin involvement' + 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary disease with peripheral neuropathy' + 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with hypopigmentation' + 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune deficiency with skin involvement' + 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional neutrophil defect' + 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dense granule disease' + 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic oculocutaneous albinism' + 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_163 Label(s): Hereditary hyperferritinemia-cataract syndrome + 'Hereditary hyperferritinemia-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Hereditary hyperferritinemia-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_162 Label(s): Cataract-glaucoma syndrome + 'Cataract-glaucoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cataract-glaucoma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_99845 Label(s): Genetic recurrent myoglobinuria + 'Genetic recurrent myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease' + 'Genetic recurrent myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' + 'Genetic recurrent myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular lipidosis' Class: http://www.orpha.net/ORDO/Orphanet_160 Label(s): Castleman disease + 'Castleman disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoid hemopathy' Class: http://www.orpha.net/ORDO/Orphanet_99849 Label(s): Glycogen storage disease due to muscle beta-enolase deficiency + 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' + 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular glycogenosis' Class: http://www.orpha.net/ORDO/Orphanet_95443 Label(s): Mesocardia + 'Mesocardia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heart position anomaly' Class: http://www.orpha.net/ORDO/Orphanet_240899 Label(s): OBSOLETE: Phenytoin toxicity + 'OBSOLETE: Phenytoin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of flucloxacilline toxicity' Class: http://www.orpha.net/ORDO/Orphanet_221039 Label(s): Hereditary sclerosing poikiloderma, Weary type + 'Hereditary sclerosing poikiloderma, Weary type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary poikiloderma' Class: http://www.orpha.net/ORDO/Orphanet_240895 Label(s): OBSOLETE: Pancuronium toxicity + 'OBSOLETE: Pancuronium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240893 Label(s): OBSOLETE: Nortriptyline toxicity + 'OBSOLETE: Nortriptyline toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_141022 Label(s): Second branchial cleft anomaly + 'Second branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_240891 Label(s): OBSOLETE: Mivacurium toxicity + 'OBSOLETE: Mivacurium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_468661 Label(s): Autosomal recessive spastic paraplegia type 74 + 'Autosomal recessive spastic paraplegia type 74' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' Class: http://www.orpha.net/ORDO/Orphanet_263508 Label(s): COG1-CDG + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with deafness as a major feature' + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Defect in conserved oligomeric Golgi complex' + 'COG1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_159 Label(s): Carnitine-acylcarnitine translocase deficiency + 'Carnitine-acylcarnitine translocase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Carnitine-acylcarnitine translocase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of carnitine cycle and carnitine transport' + 'Carnitine-acylcarnitine translocase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_158 Label(s): Systemic primary carnitine deficiency + 'Systemic primary carnitine deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular lipidosis' + 'Systemic primary carnitine deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' + 'Systemic primary carnitine deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of carnitine cycle and carnitine transport' Class: http://www.orpha.net/ORDO/Orphanet_157 Label(s): Carnitine palmitoyltransferase II deficiency + 'Carnitine palmitoyltransferase II deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of carnitine cycle and carnitine transport' + 'Carnitine palmitoyltransferase II deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular lipidosis' Class: http://www.orpha.net/ORDO/Orphanet_156 Label(s): Carnitine palmitoyl transferase 1A deficiency + 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of carnitine cycle and carnitine transport' Class: http://www.orpha.net/ORDO/Orphanet_154 Label(s): Familial isolated dilated cardiomyopathy + 'Familial isolated dilated cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for heart transplant' + 'Familial isolated dilated cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of dystrophin' + 'Familial isolated dilated cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_99226 Label(s): Monosomy X + 'Monosomy X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Turner syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99854 Label(s): Cree leukoencephalopathy + 'Cree leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_151 Label(s): OBSOLETE: Familial renal cell carcinoma + 'OBSOLETE: Familial renal cell carcinoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary papillary renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_150 Label(s): Nasopharyngeal carcinoma + 'Nasopharyngeal carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare respiratory tumor' + 'Nasopharyngeal carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr Virus-associated carcinoma' + 'Nasopharyngeal carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_99859 Label(s): OBSOLETE: Posttraumatic syringomyelia + 'OBSOLETE: Posttraumatic syringomyelia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Secondary syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_470362 Label(s): gamma-aminobutyric acid type B receptor subunit 2 + 'gamma-aminobutyric acid type B receptor subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_293284 Label(s): Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria + 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Phenylketonuria' Class: http://www.orpha.net/ORDO/Orphanet_1513 Label(s): Craniodiaphyseal dysplasia + 'Craniodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' + 'Craniodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' + 'Craniodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_1514 Label(s): Craniodigital-intellectual disability syndrome + 'Craniodigital-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Craniodigital-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_240883 Label(s): OBSOLETE: Imipramine toxicity + 'OBSOLETE: Imipramine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_93258 Label(s): Pfeiffer syndrome type 1 + 'Pfeiffer syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pfeiffer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261311 Label(s): 20q13.33 microdeletion syndrome + '20q13.33 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 20' Class: http://www.orpha.net/ORDO/Orphanet_251915 Label(s): Papillary tumor of the pineal region + 'Papillary tumor of the pineal region' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pineal tumor of neuroepithelial tissue' Class: http://www.orpha.net/ORDO/Orphanet_83330 Label(s): Proximal spinal muscular atrophy type 1 + 'Proximal spinal muscular atrophy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_309854 Label(s): Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of manganese transport' Class: http://www.orpha.net/ORDO/Orphanet_147 Label(s): Carbamoyl-phosphate synthetase 1 deficiency + 'Carbamoyl-phosphate synthetase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of urea cycle metabolism and ammonia detoxification' Class: http://www.orpha.net/ORDO/Orphanet_146 Label(s): Differentiated thyroid carcinoma + 'Differentiated thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_144 Label(s): Lynch syndrome + 'Lynch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary nonpolyposis colon cancer' Class: http://www.orpha.net/ORDO/Orphanet_143 Label(s): Parathyroid carcinoma + 'Parathyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parathyroid tumor' + 'Parathyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_142 Label(s): Anaplastic thyroid carcinoma + 'Anaplastic thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_141 Label(s): Canavan disease + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aminoacylase deficiency' + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_140 Label(s): Campomelic dysplasia + 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Campomelic dysplasia and related disorders' + 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' Class: http://www.orpha.net/ORDO/Orphanet_99867 Label(s): Thymoma + 'Thymoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thymic epithelial neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_99868 Label(s): Thymic carcinoma + 'Thymic carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thymic epithelial neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_99869 Label(s): Thymic neuroendocrine carcinoma + 'Thymic neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine tumor with other location' + 'Thymic neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thymic epithelial neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_280598 Label(s): Hereditary sensorimotor neuropathy with hyperelastic skin + 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_240879 Label(s): OBSOLETE: Glimepiride toxicity + 'OBSOLETE: Glimepiride toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_95465 Label(s): Cleft mitral valve + 'Cleft mitral valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital mitral malformation' Class: http://www.orpha.net/ORDO/Orphanet_141007 Label(s): Orofaciodigital syndrome type 9 + 'Orofaciodigital syndrome type 9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_240875 Label(s): OBSOLETE: Glibenclamide toxicity + 'OBSOLETE: Glibenclamide toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_221016 Label(s): Rothmund-Thomson syndrome type 2 + 'Rothmund-Thomson syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rothmund-Thomson syndrome' + 'Rothmund-Thomson syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_240873 Label(s): OBSOLETE: Fluindione toxicity + 'OBSOLETE: Fluindione toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_141000 Label(s): Orofaciodigital syndrome type 11 + 'Orofaciodigital syndrome type 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_468684 Label(s): CCDC115-CDG + 'CCDC115-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'CCDC115-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypercholesterolemia' Class: http://www.orpha.net/ORDO/Orphanet_138 Label(s): CHARGE syndrome + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to absence of thymus' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lens shape anomaly' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_135 Label(s): CACH syndrome + 'CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_134 Label(s): Beta-ketothiolase deficiency + 'Beta-ketothiolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic organic aciduria' + 'Beta-ketothiolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Beta-ketothiolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of ketolysis' Class: http://www.orpha.net/ORDO/Orphanet_133 Label(s): Chronic beryllium disease + 'Chronic beryllium disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pneumoconiosis' Class: http://www.orpha.net/ORDO/Orphanet_132 Label(s): Butyrylcholinesterase deficiency + 'Butyrylcholinesterase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease involving other neurotransmitter deficiency' Class: http://www.orpha.net/ORDO/Orphanet_131 Label(s): Budd-Chiari syndrome + 'Budd-Chiari syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular liver disease' + 'Budd-Chiari syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_458763 Label(s): Retiform hemangioendothelioma + 'Retiform hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_2673 Label(s): Neurofaciodigitorenal syndrome + 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1520 Label(s): Craniofrontonasal dysplasia + 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' + 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrofacial dysostosis' + 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_458768 Label(s): Primary intralymphatic angioendothelioma + 'Primary intralymphatic angioendothelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_1522 Label(s): Craniometaphyseal dysplasia + 'Craniometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' + 'Craniometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' + 'Craniometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_221008 Label(s): Rothmund-Thomson syndrome type 1 + 'Rothmund-Thomson syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rothmund-Thomson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240865 Label(s): OBSOLETE: Clomipramine toxicity + 'OBSOLETE: Clomipramine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240861 Label(s): OBSOLETE: Cisatracurium toxicity + 'OBSOLETE: Cisatracurium toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_263534 Label(s): Acral peeling skin syndrome + 'Acral peeling skin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peeling skin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1527 Label(s): Craniosynostosis, Philadelphia type + 'Craniosynostosis, Philadelphia type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Craniosynostosis, Philadelphia type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_155838 Label(s): Pinnae fistula or cyst + 'Pinnae fistula or cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_129 Label(s): Pseudopelade of Brocq + 'Pseudopelade of Brocq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_128 Label(s): Diphyllobothriasis + 'Diphyllobothriasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_125 Label(s): Bloom syndrome + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of hematopoietic and lymphoid tissues' + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic photodermatosis' + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' + 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_123 Label(s): Björnstad syndrome + 'Björnstad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Björnstad syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_122 Label(s): Birt-Hogg-Dubé syndrome + 'Birt-Hogg-Dubé syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' + 'Birt-Hogg-Dubé syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathy' + 'Birt-Hogg-Dubé syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to adulthood' + 'Birt-Hogg-Dubé syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Birt-Hogg-Dubé syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'Birt-Hogg-Dubé syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_99887 Label(s): Acute megakaryoblastic leukemia in Down syndrome + 'Acute megakaryoblastic leukemia in Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute megakaryoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_240859 Label(s): OBSOLETE: Carbutamide toxicity + 'OBSOLETE: Carbutamide toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_93280 Label(s): Spondyloepiphyseal dysplasia, Omani type + 'Spondyloepiphyseal dysplasia, Omani type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'CHST3-related skeletal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_240857 Label(s): OBSOLETE: Carbamazepine toxicity + 'OBSOLETE: Carbamazepine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of phenytoin or carbamazepine toxicity' Class: http://www.orpha.net/ORDO/Orphanet_163966 Label(s): X-linked dominant chondrodysplasia, Chassaing-Lacombe type + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_240855 Label(s): OBSOLETE: Capecitabine toxicity + 'OBSOLETE: Capecitabine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of 5-fluorouracil toxicity' Class: http://www.orpha.net/ORDO/Orphanet_284984 Label(s): Aneurysm-osteoarthritis syndrome + 'Aneurysm-osteoarthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome and Marfan-related disorders' + 'Aneurysm-osteoarthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_240853 Label(s): OBSOLETE: Azathioprine toxicity + 'OBSOLETE: Azathioprine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_240851 Label(s): OBSOLETE: Atorvastatin toxicity + 'OBSOLETE: Atorvastatin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_228357 Label(s): CLN9 disease + 'CLN9 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Juvenile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_117 Label(s): Behçet disease + 'Behçet disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Behçet disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with anterior uveitis' + 'Behçet disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome of childhood' + 'Behçet disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with posterior uveitis' + 'Behçet disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome' + 'Behçet disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'Behçet disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly large-vessel vasculitis' + 'Behçet disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory and autoimmune disease with epilepsy' + 'Behçet disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with panuveitis' Class: http://www.orpha.net/ORDO/Orphanet_116 Label(s): Beckwith-Wiedemann syndrome + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Macroglossia' + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for liver transplant' + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_115 Label(s): Congenital contractural arachnodactyly + 'Congenital contractural arachnodactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' + 'Congenital contractural arachnodactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' + 'Congenital contractural arachnodactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome and Marfan-related disorders' Class: http://www.orpha.net/ORDO/Orphanet_114 Label(s): Auriculoosteodysplasia + 'Auriculoosteodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_113 Label(s): Bazex-Dupré-Christol syndrome + 'Bazex-Dupré-Christol syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Bazex-Dupré-Christol syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' + 'Bazex-Dupré-Christol syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' Class: http://www.orpha.net/ORDO/Orphanet_112 Label(s): Bartter syndrome + 'Bartter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Bartter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_111 Label(s): Barth syndrome + 'Barth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' + 'Barth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' + 'Barth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with dilated cardiomyopathy' + 'Barth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Barth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '3-methylglutaconic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_110 Label(s): Bardet-Biedl syndrome + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in Bardet-Biedl gene' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in nephronophthisis gene' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with Hirschsprung disease as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_99898 Label(s): Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency + 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_499009 Label(s): Congenital syphilis + 'Congenital syphilis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_280569 Label(s): OBSOLETE: Rapidly progressive glomerulonephritis + 'OBSOLETE: Rapidly progressive glomerulonephritis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_231625 Label(s): Adrenocortical carcinoma with pure aldosterone hypersecretion + 'Adrenocortical carcinoma with pure aldosterone hypersecretion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare surgically correctable form of primary aldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_240849 Label(s): OBSOLETE: Antipsychotics toxicity + 'OBSOLETE: Antipsychotics toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_1532 Label(s): Gómez-López-Hernández syndrome + 'Gómez-López-Hernández syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Gómez-López-Hernández syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_240847 Label(s): OBSOLETE: Amitriptyline toxicity + 'OBSOLETE: Amitriptyline toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_93293 Label(s): Okihiro syndrome + 'Okihiro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Okihiro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Okihiro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Okihiro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Okihiro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_240843 Label(s): OBSOLETE: Acenocoumarol toxicity + 'OBSOLETE: Acenocoumarol toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_1535 Label(s): Craniosynostosis-dysmorphism-brachydactyly syndrome + 'Craniosynostosis-dysmorphism-brachydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Muenke syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93298 Label(s): Achondrogenesis type 1B + 'Achondrogenesis type 1B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Achondrogenesis' + 'Achondrogenesis type 1B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sulfation-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_109 Label(s): Bannayan-Riley-Ruvalcaba syndrome + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal polyposis' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic complex vascular malformation with associated anomalies' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PTEN hamartoma tumor syndrome' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex vascular malformation with associated anomalies' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal polyposis syndrome' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_108 Label(s): Babesiosis + 'Babesiosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_105 Label(s): Atresia of urethra + 'Atresia of urethra' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fetal lower urinary tract obstruction' Class: http://www.orpha.net/ORDO/Orphanet_103 Label(s): OBSOLETE: Genetic optic atrophy + 'OBSOLETE: Genetic optic atrophy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_101 Label(s): Dentatorubral pallidoluysian atrophy + 'Dentatorubral pallidoluysian atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Huntington disease-like syndrome' + 'Dentatorubral pallidoluysian atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type IV' Class: http://www.orpha.net/ORDO/Orphanet_100 Label(s): Ataxia-telangiectasia + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited nervous system cancer-predisposing syndrome' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_458792 Label(s): Mixed cystic lymphatic malformation + 'Mixed cystic lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Common cystic lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_280558 Label(s): Warsaw breakage syndrome + 'Warsaw breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Warsaw breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Warsaw breakage syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_280553 Label(s): Fatal infantile hypertonic myofibrillar myopathy + 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha-crystallinopathy' + 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypercontractile muscle stiffness syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284963 Label(s): Marfan syndrome type 1 + 'Marfan syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome' Class: http://www.orpha.net/ORDO/Orphanet_279894 Label(s): Toxic maculopathy due to antimalarial drugs + 'Toxic maculopathy due to antimalarial drugs' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_85293 Label(s): X-linked intellectual disability, Cabezas type + 'X-linked intellectual disability, Cabezas type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Cabezas type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99662 Label(s): OBSOLETE: Posterior fossa tumors + 'OBSOLETE: Posterior fossa tumors' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare tumor of neuroepithelial tissue' Class: http://www.orpha.net/ORDO/Orphanet_425120 Label(s): STING-associated vasculopathy with onset in infancy + 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic respiratory disease' + 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune dysregulation disease with immunodeficiency' + 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric vasculitis' + 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' + 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly small-vessel vasculitis' + 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular disease' + 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome of childhood' Class: http://www.orpha.net/ORDO/Orphanet_309803 Label(s): Rhizomelic chondrodysplasia punctata type 3 + 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rhizomelic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_2641 Label(s): OBSOLETE: Micromelic dwarfism, Fryns type + 'OBSOLETE: Micromelic dwarfism, Fryns type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_99664 Label(s): OBSOLETE: Trochlear nerve palsy + 'OBSOLETE: Trochlear nerve palsy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital trochlear nerve palsy' Class: http://www.orpha.net/ORDO/Orphanet_2643 Label(s): Microcephalic primordial dwarfism, Toriello type + 'Microcephalic primordial dwarfism, Toriello type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microcephalic primordial dwarfism' + 'Microcephalic primordial dwarfism, Toriello type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Microcephalic primordial dwarfism, Toriello type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Microcephalic primordial dwarfism, Toriello type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2645 Label(s): Osteoglosphonic dysplasia + 'Osteoglosphonic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Osteoglosphonic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_2107 Label(s): Hall-Riggs syndrome + 'Hall-Riggs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hall-Riggs syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1544 Label(s): Benign focal seizures of adolescence + 'Benign focal seizures of adolescence' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adolescent-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1546 Label(s): Cryptococcosis + 'Cryptococcosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_71269 Label(s): OBSOLETE: Benign exophthalmos syndrome + 'OBSOLETE: Benign exophthalmos syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare ophthalmic disorder' Class: http://www.orpha.net/ORDO/Orphanet_1548 Label(s): Cryptorchidism-arachnodactyly-intellectual disability syndrome + 'Cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_33069 Label(s): Dravet syndrome + 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect' + 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Channelopathy with epilepsy' + 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' + 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_33067 Label(s): Metaphyseal chondrodysplasia, Jansen type + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_71270 Label(s): OBSOLETE: Auriculoocular anomalies-cleft lip syndrome + 'OBSOLETE: Auriculoocular anomalies-cleft lip syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79399 Label(s): Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form + 'Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex without extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_228390 Label(s): Frontonasal dysplasia-alopecia-genital anomalies syndrome + 'Frontonasal dysplasia-alopecia-genital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Frontonasal dysplasia-alopecia-genital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' + 'Frontonasal dysplasia-alopecia-genital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Frontonasal dysplasia-alopecia-genital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Frontonasal dysplasia-alopecia-genital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Frontonasal dysplasia-alopecia-genital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Frontonasal dysplasia-alopecia-genital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_79397 Label(s): Epidermolysis bullosa simplex with mottled pigmentation + 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex without extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_79396 Label(s): Autosomal dominant generalized epidermolysis bullosa simplex, severe form + 'Autosomal dominant generalized epidermolysis bullosa simplex, severe form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidermolysis bullosa simplex without extracutaneous involvement' Class: http://www.orpha.net/ORDO/Orphanet_79395 Label(s): Keratoderma hereditarium mutilans with ichthyosis + 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited non-syndromic ichthyosis' + 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_79394 Label(s): Congenital non-bullous ichthyosiform erythroderma + 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_317560 Label(s): polyribonucleotide nucleotidyltransferase 1 + 'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 25' Class: http://www.orpha.net/ORDO/Orphanet_71279 Label(s): CANOMAD syndrome + 'CANOMAD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuroinflammatory or neuroimmunological disease' + 'CANOMAD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'CANOMAD syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic acquired demyelinating polyneuropathy' Class: http://www.orpha.net/ORDO/Orphanet_65759 Label(s): Carpenter syndrome + 'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathy' + 'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_444490 Label(s): Familial chylomicronemia syndrome + 'Familial chylomicronemia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hyperlipidemia' Class: http://www.orpha.net/ORDO/Orphanet_172985 Label(s): OBSOLETE: Congenital myopathy with vacuoles + 'OBSOLETE: Congenital myopathy with vacuoles' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_172982 Label(s): OBSOLETE: Congenital myopathy with fiber size variation + 'OBSOLETE: Congenital myopathy with fiber size variation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_352333 Label(s): Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome + 'Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with prominent neurologic signs' + 'Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' Class: http://www.orpha.net/ORDO/Orphanet_2658 Label(s): Lenz-Majewski hyperostotic dwarfism + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2798 Label(s): Pachygyria-intellectual disability-epilepsy syndrome + 'Pachygyria-intellectual disability-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' + 'Pachygyria-intellectual disability-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pachygyria-intellectual disability-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_79383 Label(s): OBSOLETE: Lymphedema + 'OBSOLETE: Lymphedema' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_71289 Label(s): Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome + 'Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' + 'Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_2793 Label(s): Otoonychoperoneal syndrome + 'Otoonychoperoneal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' + 'Otoonychoperoneal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Otoonychoperoneal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with limb anomaly as a major feature' + 'Otoonychoperoneal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis of genetic origin with limb anomaly as a major feature' + 'Otoonychoperoneal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2792 Label(s): Otofaciocervical syndrome + 'Otofaciocervical syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Otofaciocervical syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Otofaciocervical syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Otofaciocervical syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2791 Label(s): Otodental syndrome + 'Otodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Otodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Otodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 11' Class: http://www.orpha.net/ORDO/Orphanet_2790 Label(s): Endosteal hyperostosis, Worth type + 'Endosteal hyperostosis, Worth type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_85328 Label(s): X-linked intellectual disability, Turner type + 'X-linked intellectual disability, Turner type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_172973 Label(s): OBSOLETE: Congenital myopathy with protein accumulation + 'OBSOLETE: Congenital myopathy with protein accumulation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_251940 Label(s): Desmoplastic infantile astrocytoma/ganglioglioma + 'Desmoplastic infantile astrocytoma/ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed neuronal-glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_599485 Label(s): Acquired hemophilia B + 'Acquired hemophilia B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' Class: http://www.orpha.net/ORDO/Orphanet_2783 Label(s): Autosomal dominant osteopetrosis type 1 + 'Autosomal dominant osteopetrosis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_2780 Label(s): Osteopathia striata-cranial sclerosis syndrome + 'Osteopathia striata-cranial sclerosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' + 'Osteopathia striata-cranial sclerosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' + 'Osteopathia striata-cranial sclerosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_251946 Label(s): Dysembryoplastic neuroepithelial tumor + 'Dysembryoplastic neuroepithelial tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed neuronal-glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_399180 Label(s): Secondary non-traumatic avascular necrosis + 'Secondary non-traumatic avascular necrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_1560 Label(s): Cysticercosis + 'Cysticercosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_2666 Label(s): Adult familial nephronophthisis-spastic quadriparesia syndrome + 'Adult familial nephronophthisis-spastic quadriparesia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Adult familial nephronophthisis-spastic quadriparesia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Adult familial nephronophthisis-spastic quadriparesia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' Class: http://www.orpha.net/ORDO/Orphanet_1562 Label(s): Dacryocystitis-osteopoikilosis syndrome + 'Dacryocystitis-osteopoikilosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic lacrimal system disorder' + 'Dacryocystitis-osteopoikilosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_2776 Label(s): Autosomal recessive distal osteolysis syndrome + 'Autosomal recessive distal osteolysis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autosomal recessive distal osteolysis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autosomal recessive distal osteolysis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_2775 Label(s): Autosomal recessive carpotarsal osteolysis + 'Autosomal recessive carpotarsal osteolysis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' Class: http://www.orpha.net/ORDO/Orphanet_2771 Label(s): Bruck syndrome + 'Bruck syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with dentinogenesis imperfecta' + 'Bruck syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_2770 Label(s): Nasu-Hakola disease + 'Nasu-Hakola disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Nasu-Hakola disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with dementia' + 'Nasu-Hakola disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Nasu-Hakola disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_399175 Label(s): Traumatic avascular necrosis + 'Traumatic avascular necrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_319303 Label(s): Chromophobe renal cell carcinoma + 'Chromophobe renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_209989 Label(s): Non-papillary transitional cell carcinoma of the bladder + 'Non-papillary transitional cell carcinoma of the bladder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urinary tract tumor' Class: http://www.orpha.net/ORDO/Orphanet_566862 Label(s): Left sided atrial isomerism + 'Left sided atrial isomerism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heterotaxia' + 'Left sided atrial isomerism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' Class: http://www.orpha.net/ORDO/Orphanet_90397 Label(s): Self-healing papular mucinosis + 'Self-healing papular mucinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_319308 Label(s): MiT family translocation renal cell carcinoma + 'MiT family translocation renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_90395 Label(s): Papular mucinosis of infancy + 'Papular mucinosis of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_90394 Label(s): Discrete papular lichen myxedematosus + 'Discrete papular lichen myxedematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_90393 Label(s): Nodular lichen myxedematosus + 'Nodular lichen myxedematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized lichen myxedematosus' Class: http://www.orpha.net/ORDO/Orphanet_209981 Label(s): IRIDA syndrome + 'IRIDA syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional anemia due to iron metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_2768 Label(s): Blount disease + 'Blount disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Campomelic dysplasia and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_2764 Label(s): Osteochondritis dissecans + 'Osteochondritis dissecans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteonecrosis' Class: http://www.orpha.net/ORDO/Orphanet_2763 Label(s): Osteocraniostenosis + 'Osteocraniostenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cranial malformation' + 'Osteocraniostenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cranial malformation' + 'Osteocraniostenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_566852 Label(s): Atelencephaly + 'Atelencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aprosencephaly/atelencephaly spectrum' Class: http://www.orpha.net/ORDO/Orphanet_357237 Label(s): Severe combined immunodeficiency due to CARD11 deficiency + 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T+ B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_209973 Label(s): Benign nocturnal alternating hemiplegia of childhood + 'Benign nocturnal alternating hemiplegia of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alternating hemiplegia' Class: http://www.orpha.net/ORDO/Orphanet_1572 Label(s): Common variable immunodeficiency + 'Common variable immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency predominantly affecting antibody production' + 'Common variable immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209970 Label(s): Episodic ataxia type 7 + 'Episodic ataxia type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary episodic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_2759 Label(s): Imperforate oropharynx-costovertebral anomalies syndrome + 'Imperforate oropharynx-costovertebral anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_79346 Label(s): Chondrodysplasia punctata, tibial-metacarpal type + 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-rhizomelic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_79345 Label(s): Brachytelephalangic chondrodysplasia punctata + 'Brachytelephalangic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease' + 'Brachytelephalangic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-rhizomelic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_79344 Label(s): OBSOLETE: Chondrodysplasia punctata, Sheffield type + 'OBSOLETE: Chondrodysplasia punctata, Sheffield type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Brachytelephalangic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_2754 Label(s): Orofaciodigital syndrome type 6 + 'Orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joubert syndrome and related disorders' + 'Orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2753 Label(s): Orofaciodigital syndrome type 4 + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic malformation' + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathies with major skeletal involvement' + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2751 Label(s): Orofaciodigital syndrome type 2 + 'Orofaciodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Orofaciodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2750 Label(s): Orofaciodigital syndrome type 1 + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic sebaceous gland anomaly' + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sebaceous gland anomaly' Class: http://www.orpha.net/ORDO/Orphanet_315306 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_231662 Label(s): Isolated growth hormone deficiency type IA + 'Isolated growth hormone deficiency type IA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired isolated growth hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_33001 Label(s): Lymphedema-distichiasis syndrome + 'Lymphedema-distichiasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Lymphedema-distichiasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Lymphedema-distichiasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eyebrow/eyelash disorder' + 'Lymphedema-distichiasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late-onset primary lymphedema without systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_209967 Label(s): Episodic ataxia type 6 + 'Episodic ataxia type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary episodic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_209964 Label(s): Solitary rectal ulcer syndrome + 'Solitary rectal ulcer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_180074 Label(s): True unicornuate uterus + 'True unicornuate uterus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unilateral aplasia of the Müllerian ducts' Class: http://www.orpha.net/ORDO/Orphanet_357225 Label(s): Primary non-essential cutis verticis gyrata + 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' + 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary cutis verticis gyrata' Class: http://www.orpha.net/ORDO/Orphanet_357220 Label(s): Primary essential cutis verticis gyrata + 'Primary essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary cutis verticis gyrata' Class: http://www.orpha.net/ORDO/Orphanet_2746 Label(s): Opsismodysplasia + 'Opsismodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_79333 Label(s): COG7-CDG + 'COG7-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Defect in conserved oligomeric Golgi complex' + 'COG7-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'COG7-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'COG7-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'COG7-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' + 'COG7-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_79332 Label(s): B4GALT1-CDG + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with developmental anomaly' + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a Dandy-Walker malformation as a major feature' + 'B4GALT1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a Dandy-Walker malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2743 Label(s): Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome + 'Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' Class: http://www.orpha.net/ORDO/Orphanet_79330 Label(s): MOGS-CDG + 'MOGS-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' + 'MOGS-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'MOGS-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_454887 Label(s): Corticobasal syndrome + 'Corticobasal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Corticobasal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal neurodegeneration with movement disorder' + 'Corticobasal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal degeneration with dementia' Class: http://www.orpha.net/ORDO/Orphanet_140989 Label(s): Primary angiitis of the central nervous system + 'Primary angiitis of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly medium-vessel vasculitis' + 'Primary angiitis of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'Primary angiitis of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic central nervous system and retinal vascular disease' + 'Primary angiitis of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly small-vessel vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_208524 Label(s): Herpetiform pemphigus + 'Herpetiform pemphigus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial pemphigus' Class: http://www.orpha.net/ORDO/Orphanet_209959 Label(s): Phacoanaphylactic uveitis + 'Phacoanaphylactic uveitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-infectious anterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_90368 Label(s): Hypotrichosis simplex of the scalp + 'Hypotrichosis simplex of the scalp' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Hypotrichosis simplex of the scalp' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_289390 Label(s): Primary Sjögren syndrome + 'Primary Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' + 'Primary Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_53697 Label(s): Gnathodiaphyseal dysplasia + 'Gnathodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Gnathodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_53698 Label(s): Hyaline body myopathy + 'Hyaline body myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' + 'Hyaline body myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_90363 Label(s): Secondary intestinal lymphangiectasia + 'Secondary intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal lymphangiectasia' Class: http://www.orpha.net/ORDO/Orphanet_79329 Label(s): MGAT2-CDG + 'MGAT2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'MGAT2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'MGAT2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'MGAT2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_79328 Label(s): ALG9-CDG + 'ALG9-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'ALG9-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'ALG9-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' + 'ALG9-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_2739 Label(s): Onycho-tricho-dysplasia-neutropenia syndrome + 'Onycho-tricho-dysplasia-neutropenia syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_79326 Label(s): ALG2-CDG + 'ALG2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'ALG2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'ALG2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'ALG2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' + 'ALG2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_79325 Label(s): ALG8-CDG + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with nephropathy as a major feature' + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with intestinal involvement' + 'ALG8-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' Class: http://www.orpha.net/ORDO/Orphanet_79324 Label(s): ALG12-CDG + 'ALG12-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'ALG12-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'ALG12-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_79323 Label(s): MPDU1-CDG + 'MPDU1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'MPDU1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'MPDU1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' + 'MPDU1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79322 Label(s): DPM1-CDG + 'DPM1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'DPM1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'DPM1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_79321 Label(s): ALG3-CDG + 'ALG3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'ALG3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'ALG3-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2732 Label(s): Olivopontocerebellar atrophy-deafness syndrome + 'Olivopontocerebellar atrophy-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_2731 Label(s): Taurodontia-absent teeth-sparse hair syndrome + 'Taurodontia-absent teeth-sparse hair syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hypohidrotic ectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2730 Label(s): Postaxial tetramelic oligodactyly + 'Postaxial tetramelic oligodactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Postaxial tetramelic oligodactyly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_454872 Label(s): OBSOLETE: Type 1 interferonopathy with immunodeficiency + 'OBSOLETE: Type 1 interferonopathy with immunodeficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immune dysregulation disease with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_486815 Label(s): Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome + 'Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_289385 Label(s): Malignancy diagnosed during pregnancy + 'Malignancy diagnosed during pregnancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_289380 Label(s): Myosclerosis + 'Myosclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-dystrophic myopathy' + 'Myosclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of collagen 6' Class: http://www.orpha.net/ORDO/Orphanet_209943 Label(s): IRVAN syndrome + 'IRVAN syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal vasculopathy' + 'IRVAN syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'IRVAN syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_496790 Label(s): Ocular anomalies-axonal neuropathy-developmental delay syndrome + 'Ocular anomalies-axonal neuropathy-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Ocular anomalies-axonal neuropathy-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Ocular anomalies-axonal neuropathy-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Ocular anomalies-axonal neuropathy-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unspecified mitochondrial disorder' + 'Ocular anomalies-axonal neuropathy-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_79318 Label(s): PMM2-CDG + 'PMM2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'PMM2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' + 'PMM2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' + 'PMM2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'PMM2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' Class: http://www.orpha.net/ORDO/Orphanet_79317 Label(s): OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency + 'OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Phosphoenolpyruvate carboxykinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79316 Label(s): OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency + 'OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Phosphoenolpyruvate carboxykinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79315 Label(s): D-2-hydroxyglutaric aciduria + 'D-2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '2-hydroxyglutaric aciduria' Class: http://www.orpha.net/ORDO/Orphanet_79314 Label(s): L-2-hydroxyglutaric aciduria + 'L-2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '2-hydroxyglutaric aciduria' + 'L-2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2725 Label(s): Eye defects-arachnodactyly-cardiopathy syndrome + 'Eye defects-arachnodactyly-cardiopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Eye defects-arachnodactyly-cardiopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' + 'Eye defects-arachnodactyly-cardiopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_79312 Label(s): Vitamin B12-unresponsive methylmalonic acidemia type mut- + 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vitamin B12-unresponsive methylmalonic acidemia' Class: http://www.orpha.net/ORDO/Orphanet_79311 Label(s): Vitamin B12-responsive methylmalonic acidemia type cblB + 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vitamin B12-responsive methylmalonic acidemia' Class: http://www.orpha.net/ORDO/Orphanet_2722 Label(s): Odonto-onycho dysplasia-alopecia syndrome + 'Odonto-onycho dysplasia-alopecia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Odonto-onycho dysplasia-alopecia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Odonto-onycho dysplasia-alopecia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_140969 Label(s): Saldino-Mainzer syndrome + 'Saldino-Mainzer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Saldino-Mainzer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Saldino-Mainzer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Saldino-Mainzer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Saldino-Mainzer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ciliopathies with major skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_2690 Label(s): Neutropenia-monocytopenia-deafness syndrome + 'Neutropenia-monocytopenia-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia with extra-hematopoietic manifestations' + 'Neutropenia-monocytopenia-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_140966 Label(s): Palmoplantar keratoderma, Nagashima type + 'Palmoplantar keratoderma, Nagashima type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serpinopathy with loss of serpin function' + 'Palmoplantar keratoderma, Nagashima type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_2613 Label(s): Nail-patella-like renal disease + 'Nail-patella-like renal disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_289377 Label(s): Early-onset myopathy with fatal cardiomyopathy + 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-dystrophic myopathy' + 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of titin' + 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuromuscular disease with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_2619 Label(s): Brachydactylous dwarfism, Mseleni type + 'Brachydactylous dwarfism, Mseleni type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_90349 Label(s): Autosomal recessive cutis laxa type 1 + 'Autosomal recessive cutis laxa type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutis laxa' + 'Autosomal recessive cutis laxa type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_572385 Label(s): Brachydactyly type B1 + 'Brachydactyly type B1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brachydactyly type B' Class: http://www.orpha.net/ORDO/Orphanet_90345 Label(s): OBSOLETE: Unclassified metaphyseal chondrodysplasia + 'OBSOLETE: Unclassified metaphyseal chondrodysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_329802 Label(s): 5p13 microduplication syndrome + '5p13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '5p13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy/tetrasomy of the short arm of chromosome 5' + '5p13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_90342 Label(s): Xeroderma pigmentosum variant + 'Xeroderma pigmentosum variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' + 'Xeroderma pigmentosum variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Xeroderma pigmentosum variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic photodermatosis' + 'Xeroderma pigmentosum variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with entropion' + 'Xeroderma pigmentosum variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Xeroderma pigmentosum variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Xeroderma pigmentosum variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Xeroderma pigmentosum variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with entropion' + 'Xeroderma pigmentosum variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary ectropion' Class: http://www.orpha.net/ORDO/Orphanet_90341 Label(s): Early-onset sarcoidosis + 'Early-onset sarcoidosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Blau syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90340 Label(s): Blau syndrome + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary interstitial lung disease specific to childhood associated with a granulomatous disease' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with anterior uveitis' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Granulomatous autoinflammatory syndrome of childhood' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Granulomatous autoinflammatory syndrome' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic diseases with panuveitis' + 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_2719 Label(s): Oculocerebral hypopigmentation syndrome, Cross type + 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic oculocutaneous albinism' + 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_79306 Label(s): Progressive familial intrahepatic cholestasis type 1 + 'Progressive familial intrahepatic cholestasis type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive familial intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_79305 Label(s): Progressive familial intrahepatic cholestasis type 3 + 'Progressive familial intrahepatic cholestasis type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive familial intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_79304 Label(s): Progressive familial intrahepatic cholestasis type 2 + 'Progressive familial intrahepatic cholestasis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive familial intrahepatic cholestasis' Class: http://www.orpha.net/ORDO/Orphanet_79303 Label(s): Congenital bile acid synthesis defect type 2 + 'Congenital bile acid synthesis defect type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital bile acid synthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_79302 Label(s): Congenital bile acid synthesis defect type 3 + 'Congenital bile acid synthesis defect type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital bile acid synthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_2713 Label(s): Oculoosteocutaneous syndrome + 'Oculoosteocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Oculoosteocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Oculoosteocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2710 Label(s): Oculodentodigital dysplasia + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' + 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_49566 Label(s): Acquired purpura fulminans + 'Acquired purpura fulminans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to an acquired coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_140957 Label(s): Autosomal dominant macrothrombocytopenia + 'Autosomal dominant macrothrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hereditary giant platelet disorder' Class: http://www.orpha.net/ORDO/Orphanet_3230 Label(s): Deafness-oligodontia syndrome + 'Deafness-oligodontia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Deafness-oligodontia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Deafness-oligodontia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_140952 Label(s): Syndactyly-telecanthus-anogenital and renal malformations syndrome + 'Syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_289365 Label(s): Familial vesicoureteral reflux + 'Familial vesicoureteral reflux' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' + 'Familial vesicoureteral reflux' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of male and female' + 'Familial vesicoureteral reflux' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_289362 Label(s): Non-central nervous system-localized embryonal carcinoma + 'Non-central nervous system-localized embryonal carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Embryonal carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_90338 Label(s): Margarita island ectodermal dysplasia + 'Margarita island ectodermal dysplasia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cleft lip/palate-ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2709 Label(s): Oculodental syndrome, Rutherfurd type + 'Oculodental syndrome, Rutherfurd type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Oculodental syndrome, Rutherfurd type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' + 'Oculodental syndrome, Rutherfurd type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2707 Label(s): Oculocerebrofacial syndrome, Kaufman type + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic telecanthus' Class: http://www.orpha.net/ORDO/Orphanet_2706 Label(s): OBSOLETE: Oculocerebroacral syndrome + 'OBSOLETE: Oculocerebroacral syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2705 Label(s): OBSOLETE: Oculocerebral dysplasia + 'OBSOLETE: Oculocerebral dysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated optic nerve hypoplasia/aplasia' Class: http://www.orpha.net/ORDO/Orphanet_2704 Label(s): Ochoa syndrome + 'Ochoa syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2703 Label(s): Port-wine nevi-mega cisterna magna-hydrocephalus syndrome + 'Port-wine nevi-mega cisterna magna-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Port-wine nevi-mega cisterna magna-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Port-wine nevi-mega cisterna magna-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare capillary malformation with associated anomalies' + 'Port-wine nevi-mega cisterna magna-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Port-wine nevi-mega cisterna magna-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2701 Label(s): Noonan syndrome-like disorder with loose anagen hair + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Noonan syndrome and Noonan-related syndrome' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic outer canthal malposition' Class: http://www.orpha.net/ORDO/Orphanet_2700 Label(s): Noma + 'Noma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_140949 Label(s): Low-flow priapism + 'Low-flow priapism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urogenital disease' Class: http://www.orpha.net/ORDO/Orphanet_137686 Label(s): Asherman syndrome + 'Asherman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare non-malformative uterovaginal or vulvovaginal disease' Class: http://www.orpha.net/ORDO/Orphanet_399103 Label(s): Distal nebulin myopathy + 'Distal nebulin myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_420699 Label(s): Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency + 'Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_519408 Label(s): Mooren ulcer + 'Mooren ulcer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with corneal involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_140944 Label(s): CLOVES syndrome + 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' + 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex vascular malformation with associated anomalies' + 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' + 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic subcutaneous tissue disorder' + 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic complex vascular malformation with associated anomalies' + 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PIK3CA-related overgrowth syndrome' + 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_137681 Label(s): Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 + 'Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_289356 Label(s): Primary non-gestational choriocarcinoma of ovary + 'Primary non-gestational choriocarcinoma of ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant germ cell tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_519404 Label(s): Optic disc pit + 'Optic disc pit' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital optic disc excavation' Class: http://www.orpha.net/ORDO/Orphanet_209919 Label(s): Idiopathic copper-associated cirrhosis + 'Idiopathic copper-associated cirrhosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' Class: http://www.orpha.net/ORDO/Orphanet_519400 Label(s): Peripapillary staphyloma + 'Peripapillary staphyloma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital optic disc excavation' Class: http://www.orpha.net/ORDO/Orphanet_209916 Label(s): Extraskeletal myxoid chondrosarcoma + 'Extraskeletal myxoid chondrosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_238650 Label(s): Congenital primary megaureter, refluxing form + 'Congenital primary megaureter, refluxing form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital primary megaureter' Class: http://www.orpha.net/ORDO/Orphanet_90324 Label(s): Cockayne syndrome type 3 + 'Cockayne syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cockayne syndrome' Class: http://www.orpha.net/ORDO/Orphanet_572361 Label(s): Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 + 'Blepharophimosis-ptosis-epicanthus inversus syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Blepharophimosis-ptosis-epicanthus inversus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90322 Label(s): Cockayne syndrome type 2 + 'Cockayne syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cockayne syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90321 Label(s): Cockayne syndrome type 1 + 'Cockayne syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cockayne syndrome' Class: http://www.orpha.net/ORDO/Orphanet_238654 Label(s): Congenital primary megaureter, nonrefluxing and unobstructed form + 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital primary megaureter' Class: http://www.orpha.net/ORDO/Orphanet_566847 Label(s): Aprosencephaly/atelencephaly spectrum + 'Aprosencephaly/atelencephaly spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'Aprosencephaly/atelencephaly spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Midline cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_137678 Label(s): Spondyloepiphyseal dysplasia with metatarsal shortening + 'Spondyloepiphyseal dysplasia with metatarsal shortening' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Spondyloepiphyseal dysplasia with metatarsal shortening' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2640 Label(s): Lethal short-limb dwarfism, McAlister-Crane type + 'Lethal short-limb dwarfism, McAlister-Crane type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Atelosteogenesis type II' Class: http://www.orpha.net/ORDO/Orphanet_137675 Label(s): Histiocytoid cardiomyopathy + 'Histiocytoid cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unspecified mitochondrial disorder' + 'Histiocytoid cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' + 'Histiocytoid cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_140936 Label(s): Lelis syndrome + 'Lelis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_454831 Label(s): Acute radiation syndrome + 'Acute radiation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Radiation-induced disorder' Class: http://www.orpha.net/ORDO/Orphanet_137672 Label(s): Pellucid marginal degeneration + 'Pellucid marginal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with corneal involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_169618 Label(s): Secondary central precocious puberty + 'Secondary central precocious puberty' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central precocious puberty' Class: http://www.orpha.net/ORDO/Orphanet_169615 Label(s): Idiopathic central precocious puberty + 'Idiopathic central precocious puberty' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic precocious puberty in female' + 'Idiopathic central precocious puberty' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central precocious puberty' + 'Idiopathic central precocious puberty' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic precocious puberty' Class: http://www.orpha.net/ORDO/Orphanet_2649 Label(s): Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome + 'Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Baraitser-Winter cerebrofrontofacial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209908 Label(s): Isolated childhood apraxia of speech + 'Isolated childhood apraxia of speech' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Specific language disorder' + 'Isolated childhood apraxia of speech' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neurological disorder' Class: http://www.orpha.net/ORDO/Orphanet_90318 Label(s): OBSOLETE: Ehlers-Danlos syndrome type 2 + 'OBSOLETE: Ehlers-Danlos syndrome type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Classical Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_496756 Label(s): Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome + 'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal hereditary motor neuropathy' + 'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegeneration with brain iron accumulation' + 'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_572354 Label(s): Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 + 'Blepharophimosis-ptosis-epicanthus inversus syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + 'Blepharophimosis-ptosis-epicanthus inversus syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Blepharophimosis-ptosis-epicanthus inversus syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Blepharophimosis-ptosis-epicanthus inversus syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an anomaly of ovarian function' + 'Blepharophimosis-ptosis-epicanthus inversus syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Blepharophimosis-ptosis-epicanthus inversus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209902 Label(s): Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency + 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of bile acid synthesis' + 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypercholesterolemia' Class: http://www.orpha.net/ORDO/Orphanet_422883 Label(s): nudix hydrolase 15 - 'nudix hydrolase 15' SubClassOf 'candidate gene tested in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'nudix hydrolase 15' SubClassOf 'candidate gene tested in' some 'Precursor T-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_137667 Label(s): Capillary malformation-arteriovenous malformation + 'Capillary malformation-arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for lung transplant' + 'Capillary malformation-arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'RASopathy' + 'Capillary malformation-arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic vascular anomaly' + 'Capillary malformation-arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare capillary malformation' Class: http://www.orpha.net/ORDO/Orphanet_140927 Label(s): Benign familial neonatal-infantile seizures + 'Benign familial neonatal-infantile seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' + 'Benign familial neonatal-infantile seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' + 'Benign familial neonatal-infantile seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' + 'Benign familial neonatal-infantile seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign partial infantile seizures' Class: http://www.orpha.net/ORDO/Orphanet_454821 Label(s): Pleomorphic salivary gland adenoma + 'Pleomorphic salivary gland adenoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign epithelial tumor of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_2654 Label(s): Syndesmodysplasic dwarfism + 'Syndesmodysplasic dwarfism' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Progressive pseudorheumatoid arthropathy of childhood' Class: http://www.orpha.net/ORDO/Orphanet_2655 Label(s): Thanatophoric dysplasia + 'Thanatophoric dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Thanatophoric dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'FGFR3-related chondrodysplasia' + 'Thanatophoric dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with micromelia' Class: http://www.orpha.net/ORDO/Orphanet_140922 Label(s): Titin-related limb-girdle muscular dystrophy R10 + 'Titin-related limb-girdle muscular dystrophy R10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of titin' + 'Titin-related limb-girdle muscular dystrophy R10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_90309 Label(s): OBSOLETE: Ehlers-Danlos syndrome type 1 + 'OBSOLETE: Ehlers-Danlos syndrome type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Classical Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90308 Label(s): Klippel-Trénaunay syndrome + 'Klippel-Trénaunay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Angioosteohypertrophic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90307 Label(s): Parkes Weber syndrome + 'Parkes Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Angioosteohypertrophic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90301 Label(s): Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome + 'Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' + 'Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' + 'Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' Class: http://www.orpha.net/ORDO/Orphanet_180111 Label(s): Bicervical bicornuate uterus with patent cervix and vagina + 'Bicervical bicornuate uterus with patent cervix and vagina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Didelphys uterus' Class: http://www.orpha.net/ORDO/Orphanet_137658 Label(s): Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome + 'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Filippi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_140917 Label(s): Stapes ankylosis with broad thumbs and toes + 'Stapes ankylosis with broad thumbs and toes' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_2662 Label(s): Keipert syndrome + 'Keipert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Keipert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Keipert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Keipert syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_137653 Label(s): Microcephaly-digital anomalies-intellectual disability syndrome + 'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Jawad syndrome' Class: http://www.orpha.net/ORDO/Orphanet_709 Label(s): Peters plus syndrome + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'Peters plus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of fucoglycosan synthesis' Class: http://www.orpha.net/ORDO/Orphanet_289326 Label(s): Tropical spastic paraparesis + 'Tropical spastic paraparesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' + 'Tropical spastic paraparesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease of the nervous system' Class: http://www.orpha.net/ORDO/Orphanet_2669 Label(s): Nephrosis-deafness-urinary tract-digital malformations syndrome + 'Nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_572333 Label(s): Blepharophimosis-ptosis-epicanthus inversus syndrome plus + 'Blepharophimosis-ptosis-epicanthus inversus syndrome plus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Blepharophimosis-ptosis-epicanthus inversus syndrome plus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Blepharophimosis-ptosis-epicanthus inversus syndrome plus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 3' + 'Blepharophimosis-ptosis-epicanthus inversus syndrome plus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic telecanthus' + 'Blepharophimosis-ptosis-epicanthus inversus syndrome plus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Blepharophimosis-ptosis-epicanthus inversus syndrome plus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_624178 Label(s): Non-specific autoimmune supratentorial encephalitis without characteristic antibodies + 'Non-specific autoimmune supratentorial encephalitis without characteristic antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory and autoimmune disease with epilepsy' + 'Non-specific autoimmune supratentorial encephalitis without characteristic antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_542592 Label(s): Necrobiosis lipoidica + 'Necrobiosis lipoidica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_494526 Label(s): Infantile-onset generalized dyskinesia with orofacial involvement + 'Infantile-onset generalized dyskinesia with orofacial involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Infantile-onset generalized dyskinesia with orofacial involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_140908 Label(s): Brachydactyly type B2 + 'Brachydactyly type B2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brachydactyly type B' Class: http://www.orpha.net/ORDO/Orphanet_217656 Label(s): Familial isolated arrhythmogenic right ventricular dysplasia + 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with striated muscle involvement' + 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arrhythmogenic right ventricular cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_2674 Label(s): Cyprus facial-neuromusculoskeletal syndrome + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skeletal muscle disease' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_2675 Label(s): OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome + 'OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_2678 Label(s): Neurofibromatosis type 6 + 'Neurofibromatosis type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Neurofibromatosis type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_53372 Label(s): Hereditary geniospasm + 'Hereditary geniospasm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic tremor disorder' + 'Hereditary geniospasm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tremor disorder' Class: http://www.orpha.net/ORDO/Orphanet_238670 Label(s): Isolated thyrotropin-releasing hormone deficiency + 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central congenital hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_439196 Label(s): Zinc-responsive necrolytic acral erythema + 'Zinc-responsive necrolytic acral erythema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_2148 Label(s): Lissencephaly type 1 due to doublecortin gene mutation + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic lissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_542585 Label(s): Auditory neuropathy-optic atrophy syndrome + 'Auditory neuropathy-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Auditory neuropathy-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Auditory neuropathy-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Auditory neuropathy-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_99706 Label(s): OBSOLETE: Progeria-associated arthropathy + 'OBSOLETE: Progeria-associated arthropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Laminopathy with premature aging' Class: http://www.orpha.net/ORDO/Orphanet_137639 Label(s): Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome + 'Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '4H leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_521414 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2DD + 'Autosomal dominant Charcot-Marie-Tooth disease type 2DD' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_2680 Label(s): Hypomyelination neuropathy-arthrogryposis syndrome + 'Hypomyelination neuropathy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_567550 Label(s): Idiopathic multidrug-resistant nephrotic syndrome + 'Idiopathic multidrug-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137634 Label(s): Overgrowth-macrocephaly-facial dysmorphism syndrome + 'Overgrowth-macrocephaly-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Overgrowth-macrocephaly-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Overgrowth-macrocephaly-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137631 Label(s): Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome + 'Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-B+ severe combined immunodeficiency' + 'Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XX disorder of sex development' + 'Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic interstitial lung disease' + 'Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood' Class: http://www.orpha.net/ORDO/Orphanet_2686 Label(s): Cyclic neutropenia + 'Cyclic neutropenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_2688 Label(s): Adult idiopathic neutropenia + 'Adult idiopathic neutropenia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_2689 Label(s): Intermittent neutropenia + 'Intermittent neutropenia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cyclic neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_601002 Label(s): Non-syndromic anorectal malformation without fistula + 'Non-syndromic anorectal malformation without fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_228227 Label(s): Late-onset focal dermal elastosis + 'Late-onset focal dermal elastosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_601008 Label(s): Non-syndromic anorectal malformation with anal stenosis + 'Non-syndromic anorectal malformation with anal stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_137628 Label(s): Cardiac anomalies-heterotaxy syndrome + 'Cardiac anomalies-heterotaxy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_137625 Label(s): Glycogen storage disease due to muscle and heart glycogen synthase deficiency + 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to glycogen synthase deficiency' + 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_137622 Label(s): Intractable diarrhea-choanal atresia-eye anomalies syndrome + 'Intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intractable diarrhea of infancy' + 'Intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intractable diarrhea of infancy' + 'Intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nose and cavum anomaly' + 'Intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2695 Label(s): Bifid nose + 'Bifid nose' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic nose and cavum anomaly' + 'Bifid nose' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Median facial cleft' + 'Bifid nose' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2698 Label(s): Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome + 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2699 Label(s): Median nodule of the upper lip + 'Median nodule of the upper lip' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Median nodule of the upper lip' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_620371 Label(s): Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation + 'Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_99710 Label(s): Punctate acrokeratoderma freckle-like pigmentation + 'Punctate acrokeratoderma freckle-like pigmentation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrokeratoderma' + 'Punctate acrokeratoderma freckle-like pigmentation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic acrokeratoderma' Class: http://www.orpha.net/ORDO/Orphanet_542568 Label(s): Quadricuspid aortic valve + 'Quadricuspid aortic valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_99715 Label(s): MASS syndrome + 'MASS syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Marfan syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_466962 Label(s): SMARCA4-deficient sarcoma of thorax + 'SMARCA4-deficient sarcoma of thorax' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' + 'SMARCA4-deficient sarcoma of thorax' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare respiratory tumor' Class: http://www.orpha.net/ORDO/Orphanet_457088 Label(s): Predisposition to invasive fungal disease due to CARD9 deficiency + 'Predisposition to invasive fungal disease due to CARD9 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_137617 Label(s): Nephrogenic systemic fibrosis + 'Nephrogenic systemic fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_457083 Label(s): Isolated splenogonadal fusion + 'Isolated splenogonadal fusion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_620368 Label(s): EGF-related primary hypomagnesemia with intellectual disability + 'EGF-related primary hypomagnesemia with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of magnesium transport' + 'EGF-related primary hypomagnesemia with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'EGF-related primary hypomagnesemia with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_464756 Label(s): Familial gastric type 1 neuroendocrine tumor + 'Familial gastric type 1 neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare epithelial tumor of stomach' Class: http://www.orpha.net/ORDO/Orphanet_217622 Label(s): Sensorineural deafness with dilated cardiomyopathy + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_228140 Label(s): Idiopathic ventricular fibrillation, non Brugada type + 'Idiopathic ventricular fibrillation, non Brugada type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_620363 Label(s): Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome + 'Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of magnesium transport' + 'Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_255132 Label(s): Adult-onset autosomal recessive sideroblastic anemia + 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional sideroblastic anemia' + 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial substrate carrier disorder' Class: http://www.orpha.net/ORDO/Orphanet_498488 Label(s): Overgrowth syndrome with 2q37 translocation + 'Overgrowth syndrome with 2q37 translocation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth or tall stature syndrome with skeletal involvement' + 'Overgrowth syndrome with 2q37 translocation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex chromosomal rearrangement' Class: http://www.orpha.net/ORDO/Orphanet_466950 Label(s): Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation + 'Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137608 Label(s): Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome + 'Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complex vascular malformation with associated anomalies' + 'Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' + 'Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic complex vascular malformation with associated anomalies' + 'Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'PTEN hamartoma tumor syndrome' + 'Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_281201 Label(s): Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited non-syndromic ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_99179 Label(s): Kandori fleck retina + 'Kandori fleck retina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_99177 Label(s): Isolated distichiasis + 'Isolated distichiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eyebrow/eyelash disorder' Class: http://www.orpha.net/ORDO/Orphanet_99176 Label(s): Congenital eyelid retraction + 'Congenital eyelid retraction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital malformation of the eyelid' Class: http://www.orpha.net/ORDO/Orphanet_99905 Label(s): Streptobacillary rat-bite fever + 'Streptobacillary rat-bite fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rat-bite fever' Class: http://www.orpha.net/ORDO/Orphanet_99906 Label(s): Farmer's lung disease + 'Farmer's lung disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Occupational allergic alveolitis' Class: http://www.orpha.net/ORDO/Orphanet_99907 Label(s): House allergic alveolitis + 'House allergic alveolitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypersensitivity pneumonitis' Class: http://www.orpha.net/ORDO/Orphanet_99908 Label(s): Pigeon-breeder lung disease + 'Pigeon-breeder lung disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Occupational allergic alveolitis' Class: http://www.orpha.net/ORDO/Orphanet_230857 Label(s): Ehlers-Danlos/osteogenesis imperfecta syndrome + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dermis elastic tissue disorder' + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary connective tissue disease' + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_230851 Label(s): Cardiac-valvular Ehlers-Danlos syndrome + 'Cardiac-valvular Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Cardiac-valvular Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93302 Label(s): Brachyolmia, Maroteaux type + 'Brachyolmia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Brachyolmia' Class: http://www.orpha.net/ORDO/Orphanet_99725 Label(s): Pituitary gigantism + 'Pituitary gigantism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Somatotropic adenoma' Class: http://www.orpha.net/ORDO/Orphanet_466943 Label(s): WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome + 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99169 Label(s): Epiblepharon + 'Epiblepharon' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eyelid malposition disorder' + 'Epiblepharon' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic eyelid malposition disorder' Class: http://www.orpha.net/ORDO/Orphanet_464738 Label(s): Basel-Vanagaite-Smirin-Yosef syndrome + 'Basel-Vanagaite-Smirin-Yosef syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Basel-Vanagaite-Smirin-Yosef syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Basel-Vanagaite-Smirin-Yosef syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Basel-Vanagaite-Smirin-Yosef syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99914 Label(s): Gynandroblastoma + 'Gynandroblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant sex cord stromal tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_99915 Label(s): Maligant granulosa cell tumor of the ovary + 'Maligant granulosa cell tumor of the ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant sex cord stromal tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_99917 Label(s): Theca steroid-producing cell malignant tumor of ovary, not further specified + 'Theca steroid-producing cell malignant tumor of ovary, not further specified' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant sex cord stromal tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_48652 Label(s): Monosomy 22q13.3 + 'Monosomy 22q13.3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Monosomy 22q13.3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Monosomy 22q13.3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' + 'Monosomy 22q13.3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 22' Class: http://www.orpha.net/ORDO/Orphanet_230845 Label(s): Vascular-like classical Ehlers-Danlos syndrome + 'Vascular-like classical Ehlers-Danlos syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Classical Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95512 Label(s): Adenohypophysitis + 'Adenohypophysitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary hypophysitis' Class: http://www.orpha.net/ORDO/Orphanet_93311 Label(s): Multiple epiphyseal dysplasia type 5 + 'Multiple epiphyseal dysplasia type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_180157 Label(s): Longitudinal vaginal septum + 'Longitudinal vaginal septum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Septate vagina' Class: http://www.orpha.net/ORDO/Orphanet_93316 Label(s): Spondylometaphyseal dysplasia, Schmidt type + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_466934 Label(s): VPS11-related autosomal recessive hypomyelinating leukodystrophy + 'VPS11-related autosomal recessive hypomyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'VPS11-related autosomal recessive hypomyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309796 Label(s): Rhizomelic chondrodysplasia punctata type 2 + 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rhizomelic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_70476 Label(s): Vernal keratoconjunctivitis + 'Vernal keratoconjunctivitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare conjunctivitis' + 'Vernal keratoconjunctivitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic keratoconus' Class: http://www.orpha.net/ORDO/Orphanet_70475 Label(s): Radiation proctitis + 'Radiation proctitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Radiation-induced disorder' + 'Radiation proctitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_70474 Label(s): Leigh syndrome with cardiomyopathy + 'Leigh syndrome with cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leigh syndrome' + 'Leigh syndrome with cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_70472 Label(s): Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type + 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_70470 Label(s): OBSOLETE: Hyperlipoproteinemia type 5 + 'OBSOLETE: Hyperlipoproteinemia type 5' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial chylomicronemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_457050 Label(s): Autosomal dominant mitochondrial myopathy with exercise intolerance + 'Autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_464724 Label(s): Fever-associated acute infantile liver failure syndrome + 'Fever-associated acute infantile liver failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Fever-associated acute infantile liver failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' Class: http://www.orpha.net/ORDO/Orphanet_99732 Label(s): Sulfite oxidase deficiency due to molybdenum cofactor deficiency + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Encephalopathy due to sulfite oxidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_93321 Label(s): Radial hemimelia + 'Radial hemimelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_93322 Label(s): Tibial hemimelia + 'Tibial hemimelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_522544 Label(s): OBSOLETE: Rare genetic conjunctivitis + 'OBSOLETE: Rare genetic conjunctivitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare conjunctivitis' Class: http://www.orpha.net/ORDO/Orphanet_93324 Label(s): Autosomal recessive Kenny-Caffey syndrome + 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Kenny-Caffey syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93328 Label(s): Autosomal dominant omodysplasia + 'Autosomal dominant omodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Omodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_309789 Label(s): Rhizomelic chondrodysplasia punctata type 1 + 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rhizomelic chondrodysplasia punctata' Class: http://www.orpha.net/ORDO/Orphanet_466921 Label(s): Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome + 'Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_352763 Label(s): Scleredema + 'Scleredema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_521445 Label(s): Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome + 'Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_99932 Label(s): Heiner syndrome + 'Heiner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Secondary pulmonary hemosiderosis' Class: http://www.orpha.net/ORDO/Orphanet_99146 Label(s): OBSOLETE: Platelet function disease associated with renal insufficiency + 'OBSOLETE: Platelet function disease associated with renal insufficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare hemorrhagic disorder due to a platelet anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1923 Label(s): Methimazole embryofetopathy + 'Methimazole embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Teratogenic Pierre Robin syndrome' + 'Methimazole embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic or drug-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_99143 Label(s): OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome + 'OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_99937 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2C + 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_99938 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2D + 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_601033 Label(s): Non-syndromic anorectal malformation with H-type fistula + 'Non-syndromic anorectal malformation with H-type fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_93333 Label(s): Pelviscapular dysplasia + 'Pelviscapular dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Pelviscapular dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_93334 Label(s): Postaxial polydactyly type A + 'Postaxial polydactyly type A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic postaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_93335 Label(s): Postaxial polydactyly type B + 'Postaxial polydactyly type B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic postaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_93336 Label(s): Polydactyly of a triphalangeal thumb + 'Polydactyly of a triphalangeal thumb' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic preaxial polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_3265 Label(s): Humero-radial synostosis + 'Humero-radial synostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Joint formation defects' Class: http://www.orpha.net/ORDO/Orphanet_91136 Label(s): Acquired monoclonal Ig light chain-associated Fanconi syndrome + 'Acquired monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Acquired monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_99940 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2F + 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_99138 Label(s): Hemolytic anemia due to erythrocyte adenosine deaminase overproduction + 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' + 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_99943 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2J + 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_99944 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2K + 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_83418 Label(s): Proximal spinal muscular atrophy type 2 + 'Proximal spinal muscular atrophy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_99946 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2A1 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_2165 Label(s): Holoprosencephaly-caudal dysgenesis syndrome + 'Holoprosencephaly-caudal dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_99948 Label(s): Charcot-Marie-Tooth disease type 4A + 'Charcot-Marie-Tooth disease type 4A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_99949 Label(s): Charcot-Marie-Tooth disease type 4C + 'Charcot-Marie-Tooth disease type 4C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_293375 Label(s): Grayson-Wilbrandt corneal dystrophy + 'Grayson-Wilbrandt corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' + 'Grayson-Wilbrandt corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_228410 Label(s): Polyvalvular heart disease syndrome + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_101206 Label(s): Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome + 'Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary valve agenesis' Class: http://www.orpha.net/ORDO/Orphanet_99745 Label(s): Typhoid + 'Typhoid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare form of salmonellosis' Class: http://www.orpha.net/ORDO/Orphanet_228415 Label(s): 5q35 microduplication syndrome + '5q35 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy of the long arm of chromosome 5' Class: http://www.orpha.net/ORDO/Orphanet_319199 Label(s): Autosomal recessive spastic paraplegia type 53 + 'Autosomal recessive spastic paraplegia type 53' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive spastic paraplegia type 53' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_352745 Label(s): Oculocutaneous albinism type 7 + 'Oculocutaneous albinism type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism' Class: http://www.orpha.net/ORDO/Orphanet_99749 Label(s): Kostmann syndrome + 'Kostmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' + 'Kostmann syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_99129 Label(s): Congenital complete agenesis of pericardium + 'Congenital complete agenesis of pericardium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pericardium anomaly' Class: http://www.orpha.net/ORDO/Orphanet_352740 Label(s): Ocular albinism with congenital sensorineural deafness + 'Ocular albinism with congenital sensorineural deafness' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Waardenburg syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_99126 Label(s): OBSOLETE: Pulmonary vein atresia + 'OBSOLETE: Pulmonary vein atresia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital pulmonary veins atresia or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_99125 Label(s): Congenital total pulmonary venous return anomaly + 'Congenital total pulmonary venous return anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary venous return anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99955 Label(s): Charcot-Marie-Tooth disease type 4B1 + 'Charcot-Marie-Tooth disease type 4B1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_99956 Label(s): Charcot-Marie-Tooth disease type 4B2 + 'Charcot-Marie-Tooth disease type 4B2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_99122 Label(s): Congenital stenosis of the inferior vena cava + 'Congenital stenosis of the inferior vena cava' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of the inferior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_99120 Label(s): Persistent eustachian valve + 'Persistent eustachian valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of the inferior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_293381 Label(s): Epithelial recurrent erosion dystrophy + 'Epithelial recurrent erosion dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic superficial corneal dystrophy' + 'Epithelial recurrent erosion dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_230800 Label(s): Toxin-mediated infectious botulism + 'Toxin-mediated infectious botulism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Botulism' Class: http://www.orpha.net/ORDO/Orphanet_93357 Label(s): SPONASTRIME dysplasia + 'SPONASTRIME dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_352737 Label(s): Temperature-sensitive oculocutaneous albinism type 1 + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism type 1' Class: http://www.orpha.net/ORDO/Orphanet_1072 Label(s): Ankyloblepharon filiforme adnatum-cleft palate syndrome + 'Ankyloblepharon filiforme adnatum-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352734 Label(s): Minimal pigment oculocutaneous albinism type 1 + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism type 1' Class: http://www.orpha.net/ORDO/Orphanet_2025 Label(s): Gingival fibromatosis-facial dysmorphism syndrome + 'Gingival fibromatosis-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gingival fibromatosis-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gingival fibromatosis-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2940 Label(s): Porencephaly + 'Porencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Encephaloclastic disorder' + 'Porencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_99118 Label(s): Coronary sinus atresia + 'Coronary sinus atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of the coronary sinus' Class: http://www.orpha.net/ORDO/Orphanet_3274 Label(s): Granulomatous arthritis of childhood + 'Granulomatous arthritis of childhood' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Blau syndrome' Class: http://www.orpha.net/ORDO/Orphanet_500095 Label(s): Tall stature-intellectual disability-renal anomalies syndrome + 'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99114 Label(s): Agenesis of the superior vena cava + 'Agenesis of the superior vena cava' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of superior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_99966 Label(s): Atypical teratoid rhabdoid tumor + 'Atypical teratoid rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rhabdoid tumor' + 'Atypical teratoid rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Embryonal tumor of neuroepithelial tissue' Class: http://www.orpha.net/ORDO/Orphanet_99112 Label(s): Absence of innominate vein + 'Absence of innominate vein' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of superior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_99111 Label(s): Persistent left superior vena cava connecting to the roof of left-sided atrium + 'Persistent left superior vena cava connecting to the roof of left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital anomaly of superior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_99750 Label(s): Atypical progressive supranuclear palsy syndrome + 'Atypical progressive supranuclear palsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive supranuclear palsy' Class: http://www.orpha.net/ORDO/Orphanet_409933 Label(s): mitochondrial - 'mitochondrial' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_93360 Label(s): Spondyloepimetaphyseal dysplasia with multiple dislocations + 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_409934 Label(s): X-linked dominant - 'X-linked dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_93367 Label(s): OBSOLETE: CINCA syndrome without NLRP3 mutations + 'OBSOLETE: CINCA syndrome without NLRP3 mutations' SubClassOf http://www.orpha.net/ORDO/referred_to some 'CINCA syndrome' Class: http://www.orpha.net/ORDO/Orphanet_619233 Label(s): Hereditary persistence of fetal hemoglobin-intellectual disability syndrome + 'Hereditary persistence of fetal hemoglobin-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hereditary persistence of fetal hemoglobin-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemoglobinopathy' + 'Hereditary persistence of fetal hemoglobin-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_121610 Label(s): establishment of sister chromatid cohesion N-acetyltransferase 2 + 'establishment of sister chromatid cohesion N-acetyltransferase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Juberg-Hayward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352723 Label(s): Attenuated Chédiak-Higashi syndrome + 'Attenuated Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Attenuated Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Attenuated Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_99972 Label(s): OBSOLETE: Immunoglobulin A1 deficiency + 'OBSOLETE: Immunoglobulin A1 deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_99106 Label(s): Atrial septal defect, ostium primum type + 'Atrial septal defect, ostium primum type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Interatrial communication' Class: http://www.orpha.net/ORDO/Orphanet_99105 Label(s): Atrial septal defect, sinus venosus type + 'Atrial septal defect, sinus venosus type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Interatrial communication' Class: http://www.orpha.net/ORDO/Orphanet_99104 Label(s): Atrial septal defect, coronary sinus type + 'Atrial septal defect, coronary sinus type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Interatrial communication' Class: http://www.orpha.net/ORDO/Orphanet_99102 Label(s): Ectasia of the left atrial appendage + 'Ectasia of the left atrial appendage' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atrial appendage anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99101 Label(s): Ectasia of the right atrial appendage + 'Ectasia of the right atrial appendage' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atrial appendage anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99100 Label(s): Juxtaposition of the atrial appendages + 'Juxtaposition of the atrial appendages' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Atrial appendage anomaly' Class: http://www.orpha.net/ORDO/Orphanet_33573 Label(s): Gamma-glutamyl transpeptidase deficiency + 'Gamma-glutamyl transpeptidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of the gamma-glutamyl cycle' Class: http://www.orpha.net/ORDO/Orphanet_1203 Label(s): Duodenal atresia + 'Duodenal atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic intestinal malformation' + 'Duodenal atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic gastroduodenal malformation' Class: http://www.orpha.net/ORDO/Orphanet_240760 Label(s): Nijmegen breakage syndrome-like disorder + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_352718 Label(s): Progressive retinal dystrophy due to retinol transport defect + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_251919 Label(s): Pineal parenchymal tumor of intermediate differenciation + 'Pineal parenchymal tumor of intermediate differenciation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pineal tumor of neuroepithelial tissue' Class: http://www.orpha.net/ORDO/Orphanet_83450 Label(s): Regional odontodysplasia + 'Regional odontodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_352712 Label(s): Facial dysmorphism-immunodeficiency-livedo-short stature syndrome + 'Facial dysmorphism-immunodeficiency-livedo-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Facial dysmorphism-immunodeficiency-livedo-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Facial dysmorphism-immunodeficiency-livedo-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Facial dysmorphism-immunodeficiency-livedo-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' Class: http://www.orpha.net/ORDO/Orphanet_83453 Label(s): Vulvovaginal gingival syndrome + 'Vulvovaginal gingival syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mucosal lichen planus' + 'Vulvovaginal gingival syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare non-malformative uterovaginal or vulvovaginal disease' Class: http://www.orpha.net/ORDO/Orphanet_83454 Label(s): Glomuvenous malformation + 'Glomuvenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'Glomuvenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic venous malformation' + 'Glomuvenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare venous malformation' + 'Glomuvenous malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_3406 Label(s): Ulerythema ophryogenesis + 'Ulerythema ophryogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Keratosis pilaris atrophicans' Class: http://www.orpha.net/ORDO/Orphanet_2176 Label(s): Infantile systemic hyalinosis + 'Infantile systemic hyalinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Infantile systemic hyalinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyaline fibromatosis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_208600 Label(s): OBSOLETE: Papillary fibroelastoma of the heart + 'OBSOLETE: Papillary fibroelastoma of the heart' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_99764 Label(s): OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 + 'OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial hypoaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_352709 Label(s): CLN13 disease + 'CLN13 disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adult neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_229717 Label(s): Isolated agammaglobulinemia + 'Isolated agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Agammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_97560 Label(s): Primary membranous glomerulonephritis + 'Primary membranous glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_352704 Label(s): OBSOLETE: Cobblestone lissencephaly type B + 'OBSOLETE: Cobblestone lissencephaly type B' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' Class: http://www.orpha.net/ORDO/Orphanet_99991 Label(s): Relapsing epidemic typhus + 'Relapsing epidemic typhus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epidemic typhus' Class: http://www.orpha.net/ORDO/Orphanet_83467 Label(s): Morvan syndrome + 'Morvan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inflammatory and autoimmune disease with epilepsy' + 'Morvan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired peripheral movement disorder' + 'Morvan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune neurological channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_97566 Label(s): Non-amyloid fibrillary glomerulopathy + 'Non-amyloid fibrillary glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunotactoid or fibrillary glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_93396 Label(s): Brachydactyly type A2 + 'Brachydactyly type A2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_93397 Label(s): Brachydactyly type A7 + 'Brachydactyly type A7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_2172 Label(s): Microcephaly-glomerulonephritis-marfanoid habitus syndrome + 'Microcephaly-glomerulonephritis-marfanoid habitus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-glomerulonephritis-marfanoid habitus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_87876 Label(s): Sialidosis type 2 + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental anomaly of metabolic origin' + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sialidosis' + 'Sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_83471 Label(s): Thymic aplasia + 'Thymic aplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to absence of thymus' Class: http://www.orpha.net/ORDO/Orphanet_3417 Label(s): Van den Bosch syndrome + 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic chorioretinal dystrophy' + 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrokeratoderma' + 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic acrokeratoderma' + 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1207 Label(s): Pulmonary atresia with ventricular septal defect + 'Pulmonary atresia with ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Conotruncal heart malformations' Class: http://www.orpha.net/ORDO/Orphanet_99771 Label(s): Bifid uvula + 'Bifid uvula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleft palate' Class: http://www.orpha.net/ORDO/Orphanet_1211 Label(s): OBSOLETE: Atrichia-mental and growth delay syndrome + 'OBSOLETE: Atrichia-mental and growth delay syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atrichia with papular lesions' Class: http://www.orpha.net/ORDO/Orphanet_99772 Label(s): Cleft velum + 'Cleft velum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleft palate' Class: http://www.orpha.net/ORDO/Orphanet_263662 Label(s): Familial multiple meningioma + 'Familial multiple meningioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of meninges' Class: http://www.orpha.net/ORDO/Orphanet_87884 Label(s): Non-syndromic genetic deafness + 'Non-syndromic genetic deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare deafness' + 'Non-syndromic genetic deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_263665 Label(s): NK-cell enteropathy + 'NK-cell enteropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroenterologic disease' Class: http://www.orpha.net/ORDO/Orphanet_1216 Label(s): Autosomal dominant congenital benign spinal muscular atrophy + 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_1219 Label(s): Aurocephalosyndactyly + 'Aurocephalosyndactyly' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Saethre-Chotzen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_568051 Label(s): GJC2-related late-onset primary lymphedema + 'GJC2-related late-onset primary lymphedema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late-onset primary lymphedema without systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_3284 Label(s): OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome + 'OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare inborn errors of metabolism' Class: http://www.orpha.net/ORDO/Orphanet_35173 Label(s): X-linked dominant chondrodysplasia punctata + 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-rhizomelic chondrodysplasia punctata' + 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sterol biosynthesis disorder' + 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Musculoskeletal disease with cataract' + 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked ichthyosis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_280293 Label(s): Pelizaeus-Merzbacher-like disease due to AIMP1 mutation + 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pelizaeus-Merzbacher-like disease' Class: http://www.orpha.net/ORDO/Orphanet_240877 Label(s): OBSOLETE: Gliclazide toxicity + 'OBSOLETE: Gliclazide toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_436174 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic endocrine growth disease' + 'Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare endocrine growth disease' + 'Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_319678 Label(s): Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome + 'Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Coenzyme Q10 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_93173 Label(s): Renal dysplasia, bilateral + 'Renal dysplasia, bilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_319675 Label(s): Microcephalic primordial dwarfism, Dauber type + 'Microcephalic primordial dwarfism, Dauber type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_2299 Label(s): Aortic arch interruption + 'Aortic arch interruption' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_319671 Label(s): Alazami syndrome + 'Alazami syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_93177 Label(s): Congenital bilateral megacalycosis + 'Congenital bilateral megacalycosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital megacalycosis' Class: http://www.orpha.net/ORDO/Orphanet_99781 Label(s): OBSOLETE: Familial articular chondrocalcinosis type 1 + 'OBSOLETE: Familial articular chondrocalcinosis type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial calcium pyrophosphate deposition' Class: http://www.orpha.net/ORDO/Orphanet_79299 Label(s): Hyperinsulinism due to glucokinase deficiency + 'Hyperinsulinism due to glucokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycolysis' + 'Hyperinsulinism due to glucokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diazoxide-sensitive diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_409966 Label(s): point prevalence - 'point prevalence' SubClassOf 'prevalence' Class: http://www.orpha.net/ORDO/Orphanet_1959 Label(s): Evans syndrome + 'Evans syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune thrombocytopenia' + 'Evans syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune hemolytic anemia' Class: http://www.orpha.net/ORDO/Orphanet_79293 Label(s): Familial LCAT deficiency + 'Familial LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'LCAT deficiency' + 'Familial LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional hemolytic anemia' Class: http://www.orpha.net/ORDO/Orphanet_79292 Label(s): Fish-eye disease + 'Fish-eye disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'LCAT deficiency' Class: http://www.orpha.net/ORDO/Orphanet_409969 Label(s): lifetime prevalence - 'lifetime prevalence' SubClassOf 'prevalence' Class: http://www.orpha.net/ORDO/Orphanet_3424 Label(s): Velo-facial-skeletal syndrome + 'Velo-facial-skeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Velo-facial-skeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Velo-facial-skeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_319667 Label(s): Primary lymphoma of the conjunctiva + 'Primary lymphoma of the conjunctiva' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary organ-specific lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_104077 Label(s): Myopathic intestinal pseudoobstruction + 'Myopathic intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic intestinal pseudoobstruction' Class: http://www.orpha.net/ORDO/Orphanet_357175 Label(s): Short ulna-dysmorphism-hypotonia-intellectual disability syndrome + 'Short ulna-dysmorphism-hypotonia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Short ulna-dysmorphism-hypotonia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_79289 Label(s): Niemann-Pick disease type D + 'Niemann-Pick disease type D' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Niemann-Pick disease type C' Class: http://www.orpha.net/ORDO/Orphanet_2697 Label(s): Arthrogryposis-renal dysfunction-cholestasis syndrome + 'Arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' + 'Arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of bilirubin metabolism and excretion' + 'Arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with fatal disease course' + 'Arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_79283 Label(s): Methylmalonic acidemia with homocystinuria, type cblD + 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Methylmalonic acidemia with homocystinuria' Class: http://www.orpha.net/ORDO/Orphanet_2694 Label(s): OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome + 'OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Linear nevus sebaceus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79281 Label(s): Alpha-N-acetylgalactosaminidase deficiency type 3 + 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha-N-acetylgalactosaminidase deficiency' + 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' + 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_79280 Label(s): Alpha-N-acetylgalactosaminidase deficiency type 2 + 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha-N-acetylgalactosaminidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2691 Label(s): Nevo syndrome + 'Nevo syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_399096 Label(s): Distal anoctaminopathy + 'Distal anoctaminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_199354 Label(s): Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy + 'Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'HTRA1-related cerebral small vessel disease' Class: http://www.orpha.net/ORDO/Orphanet_240889 Label(s): OBSOLETE: Mercaptopurine toxicity + 'OBSOLETE: Mercaptopurine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_519396 Label(s): Isolated microspherophakia + 'Isolated microspherophakia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lens size anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1229 Label(s): Congenital intrauterine infection-like syndrome + 'Congenital intrauterine infection-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital intrauterine infection-like syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_319651 Label(s): Constitutional megaloblastic anemia with severe neurologic disease + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other metabolic disease with epilepsy' + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of folate metabolism and transport' + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional megaloblastic anemia due to folate metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_519390 Label(s): Isolated blepharochalasis + 'Isolated blepharochalasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eyelid malposition disorder' Class: http://www.orpha.net/ORDO/Orphanet_409974 Label(s): family - 'family' SubClassOf 'cases/families' Class: http://www.orpha.net/ORDO/Orphanet_79279 Label(s): Alpha-N-acetylgalactosaminidase deficiency type 1 + 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha-N-acetylgalactosaminidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79278 Label(s): Autosomal erythropoietic protoporphyria + 'Autosomal erythropoietic protoporphyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Porphyria' + 'Autosomal erythropoietic protoporphyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_79277 Label(s): Congenital erythropoietic porphyria + 'Congenital erythropoietic porphyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Porphyria' + 'Congenital erythropoietic porphyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional hemolytic anemia due to an enzyme disorder' Class: http://www.orpha.net/ORDO/Orphanet_79276 Label(s): Acute intermittent porphyria + 'Acute intermittent porphyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute hepatic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_2687 Label(s): Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome + 'Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'T-cell large granular lymphocyte leukemia' Class: http://www.orpha.net/ORDO/Orphanet_79273 Label(s): Hereditary coproporphyria + 'Hereditary coproporphyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute hepatic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_79272 Label(s): Sanfilippo syndrome type D + 'Sanfilippo syndrome type D' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_79271 Label(s): Sanfilippo syndrome type C + 'Sanfilippo syndrome type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_79270 Label(s): Sanfilippo syndrome type B + 'Sanfilippo syndrome type B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_199343 Label(s): EAST syndrome + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Channelopathy with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_519388 Label(s): Autosomal recessive anterior segment dysgenesis + 'Autosomal recessive anterior segment dysgenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental anomaly without extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_319646 Label(s): PGM1-CDG + 'PGM1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' + 'PGM1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with hepatic involvement' + 'PGM1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with dilated cardiomyopathy' + 'PGM1-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of protein N-glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_519384 Label(s): Congenital cystic eye + 'Congenital cystic eye' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Structural developmental eye defect' Class: http://www.orpha.net/ORDO/Orphanet_319640 Label(s): Retinal macular dystrophy type 2 + 'Retinal macular dystrophy type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_357158 Label(s): Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome + 'Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' + 'Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mandibulofacial dysostosis' + 'Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital ectropion' + 'Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_280406 Label(s): Familial steroid-resistant nephrotic syndrome with sensorineural deafness + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Coenzyme Q10 deficiency' + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_357154 Label(s): Oral submucous fibrosis + 'Oral submucous fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare maxillo-facial surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_79269 Label(s): Sanfilippo syndrome type A + 'Sanfilippo syndrome type A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_206470 Label(s): Cystadenoma of childhood + 'Cystadenoma of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare benign ovarian tumor' Class: http://www.orpha.net/ORDO/Orphanet_2679 Label(s): OBSOLETE: Infantile axonal neuropathy + 'OBSOLETE: Infantile axonal neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2677 Label(s): OBSOLETE: Neuroepithelioma + 'OBSOLETE: Neuroepithelioma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Peripheral primitive neuroectodermal tumor' Class: http://www.orpha.net/ORDO/Orphanet_2676 Label(s): Neuroectodermal-endocrine syndrome + 'Neuroectodermal-endocrine syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Woodhouse-Sakati syndrome' Class: http://www.orpha.net/ORDO/Orphanet_370396 Label(s): Small cell carcinoma of the ovary + 'Small cell carcinoma of the ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant non-epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_2672 Label(s): Neuhauser-Eichner-Opitz syndrome + 'Neuhauser-Eichner-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_2671 Label(s): Neu-Laxova syndrome + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with fatal disease course' + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disorder due to serine deficiency' + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microblepharon-ablephara syndrome' + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with prominent neurologic signs' + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lissencephaly type 3' Class: http://www.orpha.net/ORDO/Orphanet_2670 Label(s): Pierson syndrome + 'Pierson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Pierson syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_411515 Label(s): Angelman syndrome due to imprinting defect in 15q11-q13 + 'Angelman syndrome due to imprinting defect in 15q11-q13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Angelman syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319635 Label(s): Amyloidosis cutis dyschromia + 'Amyloidosis cutis dyschromia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary cutaneous amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_409980 Label(s): >1 / 1000 - '>1 / 1000' SubClassOf 'lifetime prevalence' - '>1 / 1000' SubClassOf 'annual incidence' - '>1 / 1000' SubClassOf 'point prevalence' - '>1 / 1000' SubClassOf 'birth prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409981 Label(s): Unknown_epidemiological_range - 'Unknown_epidemiological_range' SubClassOf 'lifetime prevalence' - 'Unknown_epidemiological_range' SubClassOf 'birth prevalence' - 'Unknown_epidemiological_range' SubClassOf 'annual incidence' - 'Unknown_epidemiological_range' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_209886 Label(s): OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1 + 'OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1' SubClassOf http://www.orpha.net/ORDO/referred_to some 'UMOD-related autosomal dominant tubulointerstitial kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_251598 Label(s): Protoplasmic astrocytoma + 'Protoplasmic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_317428 Label(s): Combined immunodeficiency due to ORAI1 deficiency + 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Combined immunodeficiency due to CRAC channel dysfunction' Class: http://www.orpha.net/ORDO/Orphanet_90291 Label(s): Systemic sclerosis + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial restrictive cardiomyopathy' + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Scleroderma' + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric systemic disease' + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_90290 Label(s): CREST syndrome + 'CREST syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Limited cutaneous systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_79257 Label(s): GM1 gangliosidosis type 3 + 'GM1 gangliosidosis type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'GM1 gangliosidosis' Class: http://www.orpha.net/ORDO/Orphanet_2668 Label(s): Nephropathy-deafness-hyperparathyroidism syndrome + 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_35125 Label(s): Epidermal nevus syndrome + 'Epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'Epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' Class: http://www.orpha.net/ORDO/Orphanet_79254 Label(s): Classic phenylketonuria + 'Classic phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Phenylketonuria' Class: http://www.orpha.net/ORDO/Orphanet_79253 Label(s): Mild phenylketonuria + 'Mild phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Phenylketonuria' Class: http://www.orpha.net/ORDO/Orphanet_199329 Label(s): Congenital myopathy, Paradas type + 'Congenital myopathy, Paradas type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' + 'Congenital myopathy, Paradas type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of dysferlin' Class: http://www.orpha.net/ORDO/Orphanet_2663 Label(s): Nathalie syndrome + 'Nathalie syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Nathalie syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' + 'Nathalie syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Nathalie syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_199326 Label(s): Isolated autosomal dominant hypomagnesemia, Glaudemans type + 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' + 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of magnesium transport' Class: http://www.orpha.net/ORDO/Orphanet_199323 Label(s): Endophthalmitis + 'Endophthalmitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder involving multiple structures of the eye' Class: http://www.orpha.net/ORDO/Orphanet_319623 Label(s): X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency + 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked mendelian susceptibility to mycobacterial diseases' Class: http://www.orpha.net/ORDO/Orphanet_1239 Label(s): OBSOLETE: Behr syndrome + 'OBSOLETE: Behr syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_75497 Label(s): X-linked Ehlers-Danlos syndrome + 'X-linked Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90289 Label(s): Localized scleroderma + 'Localized scleroderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Scleroderma' Class: http://www.orpha.net/ORDO/Orphanet_90287 Label(s): OBSOLETE: Maculopapular lupus rash + 'OBSOLETE: Maculopapular lupus rash' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_90285 Label(s): Lupus erythematosus panniculitis + 'Lupus erythematosus panniculitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_90283 Label(s): Lupus erythematosus tumidus + 'Lupus erythematosus tumidus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_90282 Label(s): Hypertrophic or verrucous lupus erythematosus + 'Hypertrophic or verrucous lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_90281 Label(s): Discoid lupus erythematosus + 'Discoid lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_90280 Label(s): Chilblain lupus + 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin vascular disorder' + 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic cutaneous lupus erythematosus' + 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_357131 Label(s): Venous thoracic outlet syndrome + 'Venous thoracic outlet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic outlet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79246 Label(s): Pyruvate dehydrogenase phosphatase deficiency + 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79244 Label(s): Pyruvate dehydrogenase E2 deficiency + 'Pyruvate dehydrogenase E2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79243 Label(s): Pyruvate dehydrogenase E1-alpha deficiency + 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyruvate dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79242 Label(s): Holocarboxylase synthetase deficiency + 'Holocarboxylase synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple carboxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_79241 Label(s): Biotinidase deficiency + 'Biotinidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Biotinidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Biotinidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple carboxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_399058 Label(s): Alpha-B crystallin-related late-onset myopathy + 'Alpha-B crystallin-related late-onset myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Alpha-B crystallin-related late-onset myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' + 'Alpha-B crystallin-related late-onset myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha-crystallinopathy' Class: http://www.orpha.net/ORDO/Orphanet_199315 Label(s): Familial clubfoot with or without associated lower limb anomalies + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with limb anomaly as a major feature' + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb malformations as a major feature' + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb malformations as a major feature' + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis of genetic origin with limb anomaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_182050 Label(s): MYH9-related disease + 'MYH9-related disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'MYH9-related disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' + 'MYH9-related disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_86911 Label(s): Epilepsy with myoclonic absences + 'Epilepsy with myoclonic absences' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' + 'Epilepsy with myoclonic absences' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_199310 Label(s): Tetragametic chimerism + 'Tetragametic chimerism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'Tetragametic chimerism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X and Y chromosomal anomaly' + 'Tetragametic chimerism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sex chromosome disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_519357 Label(s): OBSOLETE: Syndromic malformation of the optic disc + 'OBSOLETE: Syndromic malformation of the optic disc' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with optic disc malformation' Class: http://www.orpha.net/ORDO/Orphanet_319612 Label(s): X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency + 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked mendelian susceptibility to mycobacterial diseases' Class: http://www.orpha.net/ORDO/Orphanet_409990 Label(s): Western Asia - 'Western Asia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_209867 Label(s): Autosomal dominant rhegmatogenous retinal detachment + 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic retinal disorder' + 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_746 Label(s): Mitochondrial trifunctional protein deficiency + 'Mitochondrial trifunctional protein deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Mitochondrial trifunctional protein deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Mitochondrial trifunctional protein deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Mitochondrial trifunctional protein deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of fatty acid oxidation and ketogenesis' Class: http://www.orpha.net/ORDO/Orphanet_79238 Label(s): Galactose epimerase deficiency + 'Galactose epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'Galactose epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Galactosemia' Class: http://www.orpha.net/ORDO/Orphanet_79237 Label(s): Galactokinase deficiency + 'Galactokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Galactosemia' Class: http://www.orpha.net/ORDO/Orphanet_79235 Label(s): Crigler-Najjar syndrome type 2 + 'Crigler-Najjar syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Crigler-Najjar syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2646 Label(s): Parastremmatic dwarfism + 'Parastremmatic dwarfism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'TRPV4-related bone disorder' + 'Parastremmatic dwarfism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Campomelic dysplasia and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_86908 Label(s): Idiopathic hemiconvulsion-hemiplegia syndrome + 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86906 Label(s): Hypothalamic hamartomas with gelastic seizures + 'Hypothalamic hamartomas with gelastic seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebral malformation with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_79230 Label(s): Hemochromatosis type 2 + 'Hemochromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_199306 Label(s): Cleft lip/palate + 'Cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cleft lip with or without cleft palate' Class: http://www.orpha.net/ORDO/Orphanet_86903 Label(s): Dendritic cell sarcoma not otherwise specified + 'Dendritic cell sarcoma not otherwise specified' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dendritic cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_86900 Label(s): Interdigitating dendritic cell sarcoma + 'Interdigitating dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dendritic cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_166078 Label(s): Von Willebrand disease type 1 + 'Von Willebrand disease type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Von Willebrand disease' Class: http://www.orpha.net/ORDO/Orphanet_581271 Label(s): Cramp-fasciculation syndrome + 'Cramp-fasciculation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare autonomic nervous system disorder' + 'Cramp-fasciculation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune neurological channelopathy' + 'Cramp-fasciculation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic autonomic nervous system disorder' Class: http://www.orpha.net/ORDO/Orphanet_1241 Label(s): Bencze syndrome + 'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2639 Label(s): Fibular aplasia-complex brachydactyly syndrome + 'Fibular aplasia-complex brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Fibular aplasia-complex brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromesomelic dysplasia' + 'Fibular aplasia-complex brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_2636 Label(s): Microcephalic osteodysplastic primordial dwarfism types I and III + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microcephalic primordial dwarfism' + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2635 Label(s): Metatropic dysplasia + 'Metatropic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Metatropic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'TRPV4-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_2634 Label(s): Mesomelic dwarfism, Reinhardt-Pfeiffer type + 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2633 Label(s): Mesomelic dysplasia, Nievergelt type + 'Mesomelic dysplasia, Nievergelt type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2632 Label(s): Langer mesomelic dysplasia + 'Langer mesomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2631 Label(s): Mesomelic dwarfism-cleft palate-camptodactyly syndrome + 'Mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_519335 Label(s): OBSOLETE: Inflammatory/autoimmune optic neuropathy + 'OBSOLETE: Inflammatory/autoimmune optic neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune/inflammatory optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_300895 Label(s): ALK-positive anaplastic large cell lymphoma + 'ALK-positive anaplastic large cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anaplastic large cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_2708 Label(s): OBSOLETE: Oculocerebroosseous syndrome + 'OBSOLETE: Oculocerebroosseous syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_357107 Label(s): Arterial thoracic outlet syndrome + 'Arterial thoracic outlet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thoracic outlet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_496693 Label(s): Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome + 'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or thoracic malformation' + 'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_370348 Label(s): Peripheral primitive neuroectodermal tumor + 'Peripheral primitive neuroectodermal tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bone sarcoma' + 'Peripheral primitive neuroectodermal tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_247353 Label(s): Generalized pustular psoriasis + 'Generalized pustular psoriasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic epidermal disease' + 'Generalized pustular psoriasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_2621 Label(s): OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome + 'OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Other immunodeficiency syndrome with predominantly antibody defects' Class: http://www.orpha.net/ORDO/Orphanet_300888 Label(s): Diffuse large B-cell lymphoma with chronic inflammation + 'Diffuse large B-cell lymphoma with chronic inflammation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Diffuse large B-cell lymphoma with chronic inflammation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_496689 Label(s): Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome + 'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_2717 Label(s): Oculotrichoanal syndrome + 'Oculotrichoanal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Oculotrichoanal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Oculotrichoanal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic eyelid coloboma' Class: http://www.orpha.net/ORDO/Orphanet_449291 Label(s): Symptomatic form of fragile X syndrome in female carriers + 'Symptomatic form of fragile X syndrome in female carriers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Symptomatic form of fragile X syndrome in female carriers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' Class: http://www.orpha.net/ORDO/Orphanet_2617 Label(s): Microcephalic primordial dwarfism, Montreal type + 'Microcephalic primordial dwarfism, Montreal type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephalic primordial dwarfism, Montreal type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2616 Label(s): 3M syndrome + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_2615 Label(s): Nakajo-Nishimura syndrome + 'Nakajo-Nishimura syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Proteasome-associated autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2614 Label(s): Nail-patella syndrome + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Patellar dysostosis' + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_137599 Label(s): Herpes simplex virus stromal keratitis + 'Herpes simplex virus stromal keratitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infective keratitis' Class: http://www.orpha.net/ORDO/Orphanet_67039 Label(s): Segmental odontomaxillary dysplasia + 'Segmental odontomaxillary dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare odontal or periodontal disorder' Class: http://www.orpha.net/ORDO/Orphanet_137596 Label(s): Neurotrophic keratopathy + 'Neurotrophic keratopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infective keratitis' Class: http://www.orpha.net/ORDO/Orphanet_1226 Label(s): Bamforth-Lazarus syndrome + 'Bamforth-Lazarus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' + 'Bamforth-Lazarus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137593 Label(s): Infectious epithelial keratitis + 'Infectious epithelial keratitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infective keratitis' Class: http://www.orpha.net/ORDO/Orphanet_454750 Label(s): Isolated tracheoesophageal fistula + 'Isolated tracheoesophageal fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Isolated tracheoesophageal fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic esophageal malformation' + 'Isolated tracheoesophageal fistula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_2721 Label(s): Odonto-onycho-dermal dysplasia + 'Odonto-onycho-dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Odonto-onycho-dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Odonto-onycho-dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Odonto-onycho-dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_289266 Label(s): Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation + 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_449285 Label(s): Snakebite envenomation + 'Snakebite envenomation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_2729 Label(s): Okamoto syndrome + 'Okamoto syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Okamoto syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_276148 Label(s): Benign epithelial tumor of salivary glands + 'Benign epithelial tumor of salivary glands' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_2609 Label(s): Isolated complex I deficiency + 'Isolated complex I deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Isolated complex I deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with epilepsy' + 'Isolated complex I deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Isolated complex I deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated oxidative phosphorylation complex disorder' + 'Isolated complex I deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_2608 Label(s): N syndrome + 'N syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'N syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'N syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'N syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_329918 Label(s): C3 glomerulopathy + 'C3 glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary membranoproliferative glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_2604 Label(s): Familial visceral myopathy + 'Familial visceral myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease involving intestinal motility' Class: http://www.orpha.net/ORDO/Orphanet_2601 Label(s): OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome + 'OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_454745 Label(s): Kuru + 'Kuru' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Kuru' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired human prion disease' Class: http://www.orpha.net/ORDO/Orphanet_137586 Label(s): OBSOLETE: Herpes simplex virus keratitis + 'OBSOLETE: Herpes simplex virus keratitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Infective keratitis' Class: http://www.orpha.net/ORDO/Orphanet_180126 Label(s): Complete septate uterus + 'Complete septate uterus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Septate uterus' Class: http://www.orpha.net/ORDO/Orphanet_454742 Label(s): Variably protease-sensitive prionopathy + 'Variably protease-sensitive prionopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Variably protease-sensitive prionopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sporadic human prion disease' Class: http://www.orpha.net/ORDO/Orphanet_137583 Label(s): Vulvar intraepithelial neoplasia + 'Vulvar intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vulvovaginal tumor' Class: http://www.orpha.net/ORDO/Orphanet_2736 Label(s): Lethal omphalocele-cleft palate syndrome + 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_158011 Label(s): Necrobiotic xanthogranuloma + 'Necrobiotic xanthogranuloma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_83483 Label(s): La Crosse encephalitis + 'La Crosse encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' + 'La Crosse encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_494454 Label(s): Vulvar adenocarcinoma + 'Vulvar adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vulvar carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_450322 Label(s): Polyclonal hyperviscosity syndrome + 'Polyclonal hyperviscosity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hematologic disease' Class: http://www.orpha.net/ORDO/Orphanet_494451 Label(s): Vulvar basal cell carcinoma + 'Vulvar basal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vulvar carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_264978 Label(s): Drug or radiation exposure-related interstitial lung disease + 'Drug or radiation exposure-related interstitial lung disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Exposure-related interstitial lung disease' Class: http://www.orpha.net/ORDO/Orphanet_563671 Label(s): Mucinous cystadenoma of childhood + 'Mucinous cystadenoma of childhood' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cystadenoma of childhood' Class: http://www.orpha.net/ORDO/Orphanet_300857 Label(s): T-cell/histiocyte rich large B cell lymphoma + 'T-cell/histiocyte rich large B cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_2742 Label(s): OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome + 'OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_420584 Label(s): Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome + 'Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_424996 Label(s): Squamous cell carcinoma of gallbladder and extrahepatic biliary tract + 'Squamous cell carcinoma of gallbladder and extrahepatic biliary tract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of gallbladder and extrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_325124 Label(s): Testicular agenesis + 'Testicular agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of gonadal development' + 'Testicular agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_424991 Label(s): Adenocarcinoma of the gallbladder and extrahepatic biliary tract + 'Adenocarcinoma of the gallbladder and extrahepatic biliary tract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of gallbladder and extrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_179490 Label(s): Obesity due to congenital leptin resistance + 'Obesity due to congenital leptin resistance' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_67047 Label(s): 3-methylglutaconic aciduria type 3 + '3-methylglutaconic aciduria type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '3-methylglutaconic aciduria' + '3-methylglutaconic aciduria type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_494448 Label(s): Vulvar squamous cell carcinoma + 'Vulvar squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vulvar carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_98976 Label(s): Congenital glaucoma + 'Congenital glaucoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary early-onset glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_494444 Label(s): DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome + 'DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_79410 Label(s): Localized dystrophic epidermolysis bullosa, pretibial form + 'Localized dystrophic epidermolysis bullosa, pretibial form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized dystrophic epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_454723 Label(s): Endometrioid carcinoma of ovary + 'Endometrioid carcinoma of ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_75565 Label(s): Tropical endomyocardial fibrosis + 'Tropical endomyocardial fibrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_420573 Label(s): Severe combined immunodeficiency due to CTPS1 deficiency + 'Severe combined immunodeficiency due to CTPS1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T+ B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_2755 Label(s): Orofaciodigital syndrome type 8 + 'Orofaciodigital syndrome type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Orofaciodigital syndrome type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_563687 Label(s): Furuncular myiasis due to Cordylobia anthropophaga + 'Furuncular myiasis due to Cordylobia anthropophaga' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Furuncular myiasis' Class: http://www.orpha.net/ORDO/Orphanet_1261 Label(s): Bonnemann-Meinecke-Reich syndrome + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_496641 Label(s): Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome + 'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1262 Label(s): Böök syndrome + 'Böök syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_494439 Label(s): Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome + 'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1264 Label(s): Tricho-retino-dento-digital syndrome + 'Tricho-retino-dento-digital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Tricho-retino-dento-digital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Tricho-retino-dento-digital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Tricho-retino-dento-digital syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_454718 Label(s): Holmes-Adie syndrome + 'Holmes-Adie syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_494433 Label(s): MIRAGE syndrome + 'MIRAGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare endocrine growth disease' + 'MIRAGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'MIRAGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal hypoplasia congenita' + 'MIRAGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenogenital syndrome' + 'MIRAGE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic endocrine growth disease' Class: http://www.orpha.net/ORDO/Orphanet_454714 Label(s): Plasma cell leukemia + 'Plasma cell leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Plasma cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_217566 Label(s): Chronic respiratory distress with surfactant metabolism deficiency + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder' + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic interstitial lung disease' Class: http://www.orpha.net/ORDO/Orphanet_454710 Label(s): Anti-p200 pemphigoid + 'Anti-p200 pemphigoid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune bullous skin disease' Class: http://www.orpha.net/ORDO/Orphanet_2762 Label(s): Progressive osseous heteroplasia + 'Progressive osseous heteroplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' + 'Progressive osseous heteroplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' + 'Progressive osseous heteroplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' + 'Progressive osseous heteroplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_93 Label(s): Aspartylglucosaminuria + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oligosaccharidosis' + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_217560 Label(s): Neuroendocrine cell hyperplasia of infancy + 'Neuroendocrine cell hyperplasia of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Interstitial lung disease specific to infancy' Class: http://www.orpha.net/ORDO/Orphanet_424975 Label(s): Squamous cell carcinoma of liver and intrahepatic biliary tract + 'Squamous cell carcinoma of liver and intrahepatic biliary tract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_420561 Label(s): Temple-Baraitser syndrome + 'Temple-Baraitser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Temple-Baraitser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' + 'Temple-Baraitser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2767 Label(s): Carpotarsal osteochondromatosis + 'Carpotarsal osteochondromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_2769 Label(s): Familial osteodysplasia, Anderson type + 'Familial osteodysplasia, Anderson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant craniofacial involvement' Class: http://www.orpha.net/ORDO/Orphanet_424970 Label(s): Undifferentiated carcinoma of liver and intrahepatic biliary tract + 'Undifferentiated carcinoma of liver and intrahepatic biliary tract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_1217 Label(s): Spinal atrophy-ophthalmoplegia-pyramidal syndrome + 'Spinal atrophy-ophthalmoplegia-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Generalized bulbospinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_231466 Label(s): Acute sensory ataxic neuropathy + 'Acute sensory ataxic neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional variant of Guillain-Barré syndrome' Class: http://www.orpha.net/ORDO/Orphanet_57196 Label(s): Medial condensing osteitis of the clavicle + 'Medial condensing osteitis of the clavicle' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_57194 Label(s): OBSOLETE: Aseptic osteitis + 'OBSOLETE: Aseptic osteitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' Class: http://www.orpha.net/ORDO/Orphanet_494428 Label(s): Idiopathic pleuroparenchymal fibroelastosis + 'Idiopathic pleuroparenchymal fibroelastosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_436252 Label(s): Combined immunodeficiency-enteropathy spectrum + 'Combined immunodeficiency-enteropathy spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Combined immunodeficiency-enteropathy spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Combined immunodeficiency-enteropathy spectrum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_494424 Label(s): Extracranial carotid artery aneurysm + 'Extracranial carotid artery aneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular malformation of major vessels' Class: http://www.orpha.net/ORDO/Orphanet_454706 Label(s): Progressive muscular atrophy + 'Progressive muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Progressive muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_530303 Label(s): Progressive dementia with neuroserpin inclusion bodies + 'Progressive dementia with neuroserpin inclusion bodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial encephalopathy with neuroserpin inclusion bodies' Class: http://www.orpha.net/ORDO/Orphanet_217557 Label(s): Pulmonary interstitial glycogenosis + 'Pulmonary interstitial glycogenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Interstitial lung disease specific to infancy' Class: http://www.orpha.net/ORDO/Orphanet_420556 Label(s): Visual snow syndrome + 'Visual snow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' Class: http://www.orpha.net/ORDO/Orphanet_2772 Label(s): Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome + 'Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_2773 Label(s): Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome + 'Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2774 Label(s): Multicentric carpo-tarsal osteolysis with or without nephropathy + 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_464682 Label(s): OBSOLETE: Disorder with acute infantile liver failure + 'OBSOLETE: Disorder with acute infantile liver failure' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare parenchymal liver disease' Class: http://www.orpha.net/ORDO/Orphanet_1122 Label(s): Ulnar hypoplasia-split foot syndrome + 'Ulnar hypoplasia-split foot syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with combined reduction defects of upper and lower limbs' Class: http://www.orpha.net/ORDO/Orphanet_2777 Label(s): Osteomesopyknosis + 'Osteomesopyknosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_2778 Label(s): OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis + 'OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' Class: http://www.orpha.net/ORDO/Orphanet_2779 Label(s): Osteopathia striata-pigmentary dermopathy-white forelock syndrome + 'Osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_488632 Label(s): TBCK-related intellectual disability syndrome + 'TBCK-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'TBCK-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2785 Label(s): Osteopetrosis with renal tubular acidosis + 'Osteopetrosis with renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Osteopetrosis with renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary renal tubular acidosis' + 'Osteopetrosis with renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_2786 Label(s): Osteoporosis-oculocutaneous hypopigmentation syndrome + 'Osteoporosis-oculocutaneous hypopigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_2788 Label(s): Osteoporosis-pseudoglioma syndrome + 'Osteoporosis-pseudoglioma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Osteoporosis-pseudoglioma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Osteoporosis-pseudoglioma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Osteoporosis-pseudoglioma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic vitreoretinopathy' + 'Osteoporosis-pseudoglioma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'Osteoporosis-pseudoglioma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Osteoporosis-pseudoglioma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'Osteoporosis-pseudoglioma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_329977 Label(s): Classic neuroendocrine tumor of appendix + 'Classic neuroendocrine tumor of appendix' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine neoplasm of appendix' Class: http://www.orpha.net/ORDO/Orphanet_488642 Label(s): TELO2-related intellectual disability-neurodevelopmental disorder + 'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cortical involvement' + 'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cortical involvement' + 'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99099 Label(s): Cor triatriatum sinister + 'Cor triatriatum sinister' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Triatrial heart' Class: http://www.orpha.net/ORDO/Orphanet_99098 Label(s): Cor triatriatum dexter + 'Cor triatriatum dexter' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Triatrial heart' Class: http://www.orpha.net/ORDO/Orphanet_500548 Label(s): Osteosclerotic metaphyseal dysplasia + 'Osteosclerotic metaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_99094 Label(s): Laubry-Pezzi syndrome + 'Laubry-Pezzi syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare congenital anomaly of ventricular septum' Class: http://www.orpha.net/ORDO/Orphanet_500545 Label(s): Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract + 'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + 'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99090 Label(s): Malposition of a coronary ostium + 'Malposition of a coronary ostium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomaly of the coronary ostia' Class: http://www.orpha.net/ORDO/Orphanet_424943 Label(s): Adenocarcinoma of the liver and intrahepatic biliary tract + 'Adenocarcinoma of the liver and intrahepatic biliary tract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Carcinoma of liver and intrahepatic biliary tract' Class: http://www.orpha.net/ORDO/Orphanet_329984 Label(s): Goblet cell carcinoma + 'Goblet cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroendocrine neoplasm of appendix' Class: http://www.orpha.net/ORDO/Orphanet_410222 Label(s): Ukraine - 'Ukraine' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_99089 Label(s): Abnormal number of coronary ostia + 'Abnormal number of coronary ostia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomaly of the coronary ostia' Class: http://www.orpha.net/ORDO/Orphanet_99088 Label(s): OBSOLETE: Intramural coronary arterial course + 'OBSOLETE: Intramural coronary arterial course' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anomalous aortic origin of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_99087 Label(s): Coronary ostial stenosis or atresia + 'Coronary ostial stenosis or atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomaly of the coronary ostia' Class: http://www.orpha.net/ORDO/Orphanet_99086 Label(s): OBSOLETE: Aortopulmonary coronary arterial course + 'OBSOLETE: Aortopulmonary coronary arterial course' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anomalous aortic origin of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_99085 Label(s): OBSOLETE: Coronary artery intramyocardial course + 'OBSOLETE: Coronary artery intramyocardial course' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anomalous aortic origin of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_99084 Label(s): Peripheral pulmonary stenosis + 'Peripheral pulmonary stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary artery or pulmonary branch anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99083 Label(s): Pulmonary artery hypoplasia + 'Pulmonary artery hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Pulmonary artery hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary artery or pulmonary branch anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99082 Label(s): Dysphagia lusoria + 'Dysphagia lusoria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_500533 Label(s): Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome + 'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_96059 Label(s): Mosaic trisomy 4 + 'Mosaic trisomy 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_329998 Label(s): OBSOLETE: Lymphomatous meningitis + 'OBSOLETE: Lymphomatous meningitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_352699 Label(s): OBSOLETE: Cobblestone lissencephaly type C + 'OBSOLETE: Cobblestone lissencephaly type C' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' Class: http://www.orpha.net/ORDO/Orphanet_139411 Label(s): Carney triad + 'Carney triad' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple polyglandular tumor' Class: http://www.orpha.net/ORDO/Orphanet_225293 Label(s): WD repeat domain 72 - 'WD repeat domain 72' SubClassOf 'disease-causing germline mutation(s) in' some 'Distal renal tubular acidosis' + 'WD repeat domain 72' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_101150 Label(s): Autosomal recessive dopa-responsive dystonia + 'Autosomal recessive dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of tyrosine metabolism' + 'Autosomal recessive dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dopa-responsive dystonia' + 'Autosomal recessive dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352694 Label(s): OBSOLETE: Cobblestone lissencephaly type A + 'OBSOLETE: Cobblestone lissencephaly type A' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' Class: http://www.orpha.net/ORDO/Orphanet_99079 Label(s): Cervical aortic arch + 'Cervical aortic arch' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_99078 Label(s): Neuhauser anomaly + 'Neuhauser anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_99077 Label(s): Kommerell diverticulum + 'Kommerell diverticulum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_99076 Label(s): Persistent fifth aortic arch + 'Persistent fifth aortic arch' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_99075 Label(s): Encircling double aortic arch + 'Encircling double aortic arch' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_99072 Label(s): Congenital patent ductus arteriosus aneurysm + 'Congenital patent ductus arteriosus aneurysm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arterial duct anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99071 Label(s): Aorto-left ventricular tunnel + 'Aorto-left ventricular tunnel' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aorto-ventricular tunnel' Class: http://www.orpha.net/ORDO/Orphanet_93404 Label(s): Syndactyly type 3 + 'Syndactyly type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_57145 Label(s): SUNCT syndrome + 'SUNCT syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Trigeminal autonomic cephalalgia' Class: http://www.orpha.net/ORDO/Orphanet_93409 Label(s): Brachydactyly-syndactyly, Zhao type + 'Brachydactyly-syndactyly, Zhao type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_352682 Label(s): Cobblestone lissencephaly without muscular or ocular involvement + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cobblestone lissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_268173 Label(s): Intermittent maple syrup urine disease + 'Intermittent maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maple syrup urine disease' Class: http://www.orpha.net/ORDO/Orphanet_99068 Label(s): Complete atrioventricular septal defect-tetralogy of Fallot + 'Complete atrioventricular septal defect-tetralogy of Fallot' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Complete atrioventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_99066 Label(s): OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome + 'OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Complete atrioventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_591 Label(s): Furuncular myiasis + 'Furuncular myiasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutaneous myiasis' Class: http://www.orpha.net/ORDO/Orphanet_99062 Label(s): Mitral valve agenesis + 'Mitral valve agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital mitral valve insufficiency and/or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_99061 Label(s): Accessory mitral valve tissue + 'Accessory mitral valve tissue' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital mitral valve insufficiency and/or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_99060 Label(s): Congenital unguarded mitral orifice + 'Congenital unguarded mitral orifice' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital mitral valve insufficiency and/or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_98267 Label(s): Genetic non-syndromic obesity + 'Genetic non-syndromic obesity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic obesity' Class: http://www.orpha.net/ORDO/Orphanet_482077 Label(s): HTRA1-related autosomal dominant cerebral small vessel disease + 'HTRA1-related autosomal dominant cerebral small vessel disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'HTRA1-related cerebral small vessel disease' Class: http://www.orpha.net/ORDO/Orphanet_436271 Label(s): Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy + 'Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_439167 Label(s): Placental insufficiency + 'Placental insufficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_352675 Label(s): X-linked Charcot-Marie-Tooth disease type 6 + 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_99059 Label(s): Congenital supravalvular mitral ring + 'Congenital supravalvular mitral ring' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital mitral valve insufficiency and/or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_99058 Label(s): Hypoplasia of the mitral valve annulus + 'Hypoplasia of the mitral valve annulus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital mitral valve insufficiency and/or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_99057 Label(s): Congenital mitral stenosis + 'Congenital mitral stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital mitral valve insufficiency and/or stenosis' Class: http://www.orpha.net/ORDO/Orphanet_99054 Label(s): Valvular pulmonary stenosis + 'Valvular pulmonary stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary valvar stenosis' Class: http://www.orpha.net/ORDO/Orphanet_99053 Label(s): Tunnel subaortic stenosis + 'Tunnel subaortic stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fixed subaortic stenosis' Class: http://www.orpha.net/ORDO/Orphanet_99052 Label(s): Discrete fibromuscular subaortic stenosis + 'Discrete fibromuscular subaortic stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fixed subaortic stenosis' Class: http://www.orpha.net/ORDO/Orphanet_99051 Label(s): Discrete fixed membranous subaortic stenosis + 'Discrete fixed membranous subaortic stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fixed subaortic stenosis' Class: http://www.orpha.net/ORDO/Orphanet_99050 Label(s): Abnormal origin of right or left pulmonary artery from the aorta + 'Abnormal origin of right or left pulmonary artery from the aorta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Abnormal origin of right or left pulmonary artery from the aorta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Abnormal origin of the pulmonary artery' Class: http://www.orpha.net/ORDO/Orphanet_137605 Label(s): Legius syndrome + 'Legius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Legius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Legius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Legius syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'RASopathy' Class: http://www.orpha.net/ORDO/Orphanet_370052 Label(s): SCALP syndrome + 'SCALP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_93427 Label(s): OBSOLETE: Metatropic dysplasias + 'OBSOLETE: Metatropic dysplasias' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Metatropic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_439175 Label(s): Pediatric arterial ischemic stroke + 'Pediatric arterial ischemic stroke' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' + 'Pediatric arterial ischemic stroke' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-inflammatory vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_352665 Label(s): Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion + 'Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome' + 'Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial monosomy of the long arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_352662 Label(s): Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome + 'Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' + 'Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_99049 Label(s): Pulmonary artery coming from patent ductus arteriosus + 'Pulmonary artery coming from patent ductus arteriosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Abnormal origin of the pulmonary artery' Class: http://www.orpha.net/ORDO/Orphanet_99048 Label(s): Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome + 'Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary valve agenesis' Class: http://www.orpha.net/ORDO/Orphanet_99047 Label(s): Double outlet right ventricle with doubly committed ventricular septal defect + 'Double outlet right ventricle with doubly committed ventricular septal defect' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Double outlet right ventricle with subaortic or doubly committed ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_99046 Label(s): Double outlet right ventricle with non-committed subpulmonary ventricular septal defect + 'Double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Double outlet right ventricle' Class: http://www.orpha.net/ORDO/Orphanet_99044 Label(s): Double outlet right ventricle with subaortic ventricular septal defect + 'Double outlet right ventricle with subaortic ventricular septal defect' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Double outlet right ventricle with subaortic or doubly committed ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_99043 Label(s): Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis + 'Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Double outlet right ventricle' Class: http://www.orpha.net/ORDO/Orphanet_99042 Label(s): Congenitally uncorrected transposition of the great arteries with coarctation + 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenitally uncorrected transposition of the great arteries' Class: http://www.orpha.net/ORDO/Orphanet_620220 Label(s): Bartter syndrome type 2 + 'Bartter syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Bartter syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bartter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101112 Label(s): Spinocerebellar ataxia type 26 + 'Spinocerebellar ataxia type 26' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type III' Class: http://www.orpha.net/ORDO/Orphanet_352657 Label(s): Hereditary benign intraepithelial dyskeratosis + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_101110 Label(s): Spinocerebellar ataxia type 20 + 'Spinocerebellar ataxia type 20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_352654 Label(s): Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome + 'Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_620217 Label(s): Bartter syndrome type 1 + 'Bartter syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bartter syndrome' + 'Bartter syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_59315 Label(s): Rhombencephalosynapsis + 'Rhombencephalosynapsis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cerebellar malformation' Class: http://www.orpha.net/ORDO/Orphanet_620212 Label(s): Non-syndromic pansynostosis + 'Non-syndromic pansynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_398987 Label(s): Malignant teratoma of ovary + 'Malignant teratoma of ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant non-epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_398980 Label(s): Primary peritoneal serous/papillary carcinoma + 'Primary peritoneal serous/papillary carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_101107 Label(s): Spinocerebellar ataxia type 22 + 'Spinocerebellar ataxia type 22' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Spinocerebellar ataxia type 19/22' Class: http://www.orpha.net/ORDO/Orphanet_101106 Label(s): OBSOLETE: Non-secreting chemodectoma + 'OBSOLETE: Non-secreting chemodectoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-functioning paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_101104 Label(s): Marin-Amat syndrome + 'Marin-Amat syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marcus-Gunn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352649 Label(s): Brain dopamine-serotonin vesicular transport disease + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of neurotransmitter metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_101102 Label(s): Charcot-Marie-Tooth disease type 2H + 'Charcot-Marie-Tooth disease type 2H' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_101101 Label(s): Charcot-Marie-Tooth disease type 2B2 + 'Charcot-Marie-Tooth disease type 2B2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_352641 Label(s): Autosomal recessive cerebellar ataxia with late-onset spasticity + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis' + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive metabolic cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_163918 Label(s): OBSOLETE: Non-paraneoplastic limbic encephalitis + 'OBSOLETE: Non-paraneoplastic limbic encephalitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_99027 Label(s): Adult-onset autosomal dominant leukodystrophy + 'Adult-onset autosomal dominant leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Adult-onset autosomal dominant leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Adult-onset autosomal dominant leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy of the long arm of chromosome 5' + 'Adult-onset autosomal dominant leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_620205 Label(s): Non-syndromic bicoronal and sagittal craniosynostosis + 'Non-syndromic bicoronal and sagittal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_59303 Label(s): Neonatal ichthyosis-sclerosing cholangitis syndrome + 'Neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sclerosing cholangitis' + 'Neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic biliary tract disease' + 'Neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' Class: http://www.orpha.net/ORDO/Orphanet_544602 Label(s): Congenital myopathy with reduced type 2 muscle fibers + 'Congenital myopathy with reduced type 2 muscle fibers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_2714 Label(s): Oculo-palato-cerebral syndrome + 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295245 Label(s): Macrodactyly of toes, bilateral + 'Macrodactyly of toes, bilateral' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Macrodactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_398971 Label(s): Clear cell adenocarcinoma of the ovary + 'Clear cell adenocarcinoma of the ovary' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_2716 Label(s): OBSOLETE: Oculo-skeletal-renal syndrome + 'OBSOLETE: Oculo-skeletal-renal syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_117691 Label(s): ABL proto-oncogene 1, non-receptor tyrosine kinase - 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'ABL proto-oncogene 1, non-receptor tyrosine kinase' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)' Class: http://www.orpha.net/ORDO/Orphanet_65682 Label(s): Benign recurrent intrahepatic cholestasis + 'Benign recurrent intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial intrahepatic cholestasis' + 'Benign recurrent intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of bilirubin metabolism and excretion' Class: http://www.orpha.net/ORDO/Orphanet_1617 Label(s): 2q24 microdeletion syndrome + '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 2' + '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_352636 Label(s): Phalangeal microgeodic syndrome + 'Phalangeal microgeodic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_65684 Label(s): Monomelic amyotrophy + 'Monomelic amyotrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_314790 Label(s): Null pituitary adenoma + 'Null pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_210571 Label(s): Dystonia 16 + 'Dystonia 16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Dystonia 16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' + 'Dystonia 16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_99015 Label(s): Spastic paraplegia type 2 + 'Spastic paraplegia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Spastic paraplegia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex X-linked spastic paraplegia' + 'Spastic paraplegia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_99014 Label(s): X-linked Charcot-Marie-Tooth disease type 5 + 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked Charcot-Marie-Tooth disease' + 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of purine metabolism' + 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_99013 Label(s): Spastic paraplegia type 7 + 'Spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary ataxia' + 'Spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal recessive spastic paraplegia' + 'Spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal dominant spastic paraplegia' + 'Spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_99012 Label(s): OBSOLETE: Autosomal recessive optic atrophy, OPA6 type + 'OBSOLETE: Autosomal recessive optic atrophy, OPA6 type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal recessive isolated optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_440221 Label(s): Congenital oculomotor nerve palsy + 'Congenital oculomotor nerve palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare oculomotor nerve disorder' Class: http://www.orpha.net/ORDO/Orphanet_280397 Label(s): Familial Alzheimer-like prion disease + 'Familial Alzheimer-like prion disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited human prion disease' Class: http://www.orpha.net/ORDO/Orphanet_352629 Label(s): 16q24.1 microdeletion syndrome + '16q24.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + '16q24.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 16' + '16q24.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic interstitial lung disease' Class: http://www.orpha.net/ORDO/Orphanet_79435 Label(s): Oculocutaneous albinism type 4 + 'Oculocutaneous albinism type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Oculocutaneous albinism type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_370079 Label(s): Proximal 16p11.2 microduplication syndrome + 'Proximal 16p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Proximal 16p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_180188 Label(s): Isolated congenital breast hypoplasia/aplasia + 'Isolated congenital breast hypoplasia/aplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Deficient breast volume or number' + 'Isolated congenital breast hypoplasia/aplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic gynecological and obstetrical diseases' Class: http://www.orpha.net/ORDO/Orphanet_2720 Label(s): Oculocerebral hypopigmentation syndrome, Preus type + 'Oculocerebral hypopigmentation syndrome, Preus type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculocerebral hypopigmentation syndrome, Preus type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculocerebral hypopigmentation syndrome, Preus type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Oculocerebral hypopigmentation syndrome, Preus type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Oculocerebral hypopigmentation syndrome, Preus type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Oculocerebral hypopigmentation syndrome, Preus type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Oculocerebral hypopigmentation syndrome, Preus type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic oculocutaneous albinism' Class: http://www.orpha.net/ORDO/Orphanet_99002 Label(s): Reticular dystrophy of the retinal pigment epithelium + 'Reticular dystrophy of the retinal pigment epithelium' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pattern dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_99000 Label(s): Adult-onset foveomacular vitelliform dystrophy + 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pattern dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_440233 Label(s): Congenital abducens nerve palsy + 'Congenital abducens nerve palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare ophthalmic disorder with cranial nerve involvement' + 'Congenital abducens nerve palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic ophthalmic disorder with cranial nerve involvement' Class: http://www.orpha.net/ORDO/Orphanet_2723 Label(s): Odontotrichomelic syndrome + 'Odontotrichomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Odontotrichomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Odontotrichomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Odontotrichomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_1621 Label(s): 3q13 microdeletion syndrome + '3q13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 3' Class: http://www.orpha.net/ORDO/Orphanet_280384 Label(s): Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome + 'Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_437552 Label(s): Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity + 'Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary immunodeficiency with predisposition to severe viral infection' + 'Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' Class: http://www.orpha.net/ORDO/Orphanet_93473 Label(s): Hurler syndrome + 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with restrictive cardiomyopathy' + 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_1625 Label(s): OBSOLETE: Deletion 4q + 'OBSOLETE: Deletion 4q' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Partial deletion of the long arm of chromosome 4' Class: http://www.orpha.net/ORDO/Orphanet_2728 Label(s): Blepharophimosis-intellectual disability syndrome, Ohdo type + 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Blepharophimosis-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99124 Label(s): Congenital partial pulmonary venous return anomaly + 'Congenital partial pulmonary venous return anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital pulmonary venous return anomaly' Class: http://www.orpha.net/ORDO/Orphanet_261534 Label(s): 49,XXXYY syndrome + '49,XXXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X and Y chromosomal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_444138 Label(s): Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome + 'Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited non-syndromic ichthyosis' + 'Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated punctate palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_238475 Label(s): Familial hypercholanemia + 'Familial hypercholanemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bile acid synthesis defect with cholestasis and malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_280379 Label(s): Erythropoietic uroporphyria associated with myeloid malignancy + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Porphyria' Class: http://www.orpha.net/ORDO/Orphanet_50251 Label(s): Pleural mesothelioma + 'Pleural mesothelioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bronchopulmonary tumor' Class: http://www.orpha.net/ORDO/Orphanet_329308 Label(s): Fatty acid hydroxylase-associated neurodegeneration + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegeneration with brain iron accumulation' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' Class: http://www.orpha.net/ORDO/Orphanet_67048 Label(s): 3-methylglutaconic aciduria type 4 + '3-methylglutaconic aciduria type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '3-methylglutaconic aciduria' + '3-methylglutaconic aciduria type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Metabolic disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_42775 Label(s): PHACE syndrome + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurovascular malformation' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic vascular tumor' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vascular tumor with associated anomalies' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_67046 Label(s): 3-methylglutaconic aciduria type 1 + '3-methylglutaconic aciduria type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '3-methylglutaconic aciduria' + '3-methylglutaconic aciduria type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_67045 Label(s): X-linked intellectual disability with isolated growth hormone deficiency + 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_67044 Label(s): Thrombocytopenia with congenital dyserythropoietic anemia + 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital dyserythropoietic anemia' + 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hereditary giant platelet disorder' Class: http://www.orpha.net/ORDO/Orphanet_67041 Label(s): Hyaluronidase deficiency + 'Hyaluronidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis' + 'Hyaluronidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_263335 Label(s): Moderately-differentiated thymic neuroendocrine carcinoma + 'Moderately-differentiated thymic neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thymic neuroendocrine carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_251623 Label(s): Pituicytoma + 'Pituicytoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Low-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_96106 Label(s): Distal trisomy 16q + 'Distal trisomy 16q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy of the long arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_2733 Label(s): Omodysplasia + 'Omodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_251627 Label(s): Oligodendroglioma + 'Oligodendroglioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oligodendroglial tumor' Class: http://www.orpha.net/ORDO/Orphanet_280365 Label(s): Autosomal semi-dominant severe lipodystrophic laminopathy + 'Autosomal semi-dominant severe lipodystrophic laminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' + 'Autosomal semi-dominant severe lipodystrophic laminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial lipodystrophy' + 'Autosomal semi-dominant severe lipodystrophic laminopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_35099 Label(s): Non-syndromic bicoronal craniosynostosis + 'Non-syndromic bicoronal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniostenosis with strabismus' + 'Non-syndromic bicoronal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_35098 Label(s): OBSOLETE: Isolated plagiocephaly + 'OBSOLETE: Isolated plagiocephaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Non-syndromic unisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_36258 Label(s): Buerger disease + 'Buerger disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly medium-vessel vasculitis' + 'Buerger disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic vasculitis associated with glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_35093 Label(s): Non-syndromic sagittal craniosynostosis + 'Non-syndromic sagittal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Craniostenosis with strabismus' + 'Non-syndromic sagittal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic unisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_67038 Label(s): B-cell chronic lymphocytic leukemia + 'B-cell chronic lymphocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Indolent B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_67037 Label(s): OBSOLETE: Squamous cell carcinoma of head and neck + 'OBSOLETE: Squamous cell carcinoma of head and neck' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_67036 Label(s): Autosomal dominant optic atrophy and cataract + 'Autosomal dominant optic atrophy and cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant optic atrophy' + 'Autosomal dominant optic atrophy and cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' Class: http://www.orpha.net/ORDO/Orphanet_86893 Label(s): Nodular lymphocyte predominant Hodgkin lymphoma + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_199293 Label(s): Congenital microgastria + 'Congenital microgastria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic gastroduodenal malformation' Class: http://www.orpha.net/ORDO/Orphanet_261559 Label(s): OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome + 'OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Blepharophimosis-ptosis-epicanthus inversus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86880 Label(s): Enteropathy-associated T-cell lymphoma + 'Enteropathy-associated T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-cell non-Hodgkin lymphoma' + 'Enteropathy-associated T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tumor of small intestine' Class: http://www.orpha.net/ORDO/Orphanet_442582 Label(s): AH amyloidosis + 'AH amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'AH amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_75857 Label(s): 6q terminal deletion syndrome + '6q terminal deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 6' + '6q terminal deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_280356 Label(s): PLIN1-related familial partial lipodystrophy + 'PLIN1-related familial partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' + 'PLIN1-related familial partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_86886 Label(s): Angioimmunoblastic T-cell lymphoma + 'Angioimmunoblastic T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_86884 Label(s): Subcutaneous panniculitis-like T-cell lymphoma + 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Indolent primary cutaneous T-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_199285 Label(s): Hereditary hypercarotenemia and vitamin A deficiency + 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of other vitamins and cofactors metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_319589 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' Class: http://www.orpha.net/ORDO/Orphanet_26349 Label(s): Protein S acquired deficiency + 'Protein S acquired deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to an acquired coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_2741 Label(s): Ophthalmomandibulomelic dysplasia + 'Ophthalmomandibulomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2744 Label(s): Horizontal gaze palsy with progressive scoliosis + 'Horizontal gaze palsy with progressive scoliosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Horizontal gaze palsy with progressive scoliosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Horizontal gaze palsy with progressive scoliosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Horizontal gaze palsy with progressive scoliosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1642 Label(s): Distal monosomy 9p + 'Distal monosomy 9p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 9' + 'Distal monosomy 9p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' + 'Distal monosomy 9p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_440368 Label(s): Necrotizing soft tissue infection + 'Necrotizing soft tissue infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_86879 Label(s): Extranodal nasal NK/T cell lymphoma + 'Extranodal nasal NK/T cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive primary cutaneous T-cell lymphoma' + 'Extranodal nasal NK/T cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' Class: http://www.orpha.net/ORDO/Orphanet_199279 Label(s): Familial angiolipomatosis + 'Familial angiolipomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic subcutaneous tissue disorder' + 'Familial angiolipomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_596448 Label(s): IgG4-related systemic disease + 'IgG4-related systemic disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related disease' Class: http://www.orpha.net/ORDO/Orphanet_86875 Label(s): Adult T-cell leukemia/lymphoma + 'Adult T-cell leukemia/lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare virus associated tumor' + 'Adult T-cell leukemia/lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive primary cutaneous T-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_86873 Label(s): Aggressive NK-cell leukemia + 'Aggressive NK-cell leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Large granular lymphocyte leukemia' Class: http://www.orpha.net/ORDO/Orphanet_556030 Label(s): Early-onset familial hypoaldosteronism + 'Early-onset familial hypoaldosteronism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial hypoaldosteronism' Class: http://www.orpha.net/ORDO/Orphanet_86870 Label(s): CD4+/CD56+ hematodermic neoplasm + 'CD4+/CD56+ hematodermic neoplasm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_261579 Label(s): OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations + 'OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Blepharophimosis-ptosis-epicanthus inversus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_83597 Label(s): Acute disseminated encephalomyelitis + 'Acute disseminated encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple sclerosis variant' + 'Acute disseminated encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune encephalitis' + 'Acute disseminated encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune/inflammatory optic neuropathy' + 'Acute disseminated encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_99139 Label(s): Unstable hemoglobin disease + 'Unstable hemoglobin disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_280333 Label(s): Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 + 'Alpha-dystroglycan-related limb-girdle muscular dystrophy R16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary qualitative or quantitative defects of alpha-dystroglycan' + 'Alpha-dystroglycan-related limb-girdle muscular dystrophy R16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Alpha-dystroglycan-related limb-girdle muscular dystrophy R16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'Alpha-dystroglycan-related limb-girdle muscular dystrophy R16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206549 Label(s): Anoctamin-5-related limb-girdle muscular dystrophy R12 + 'Anoctamin-5-related limb-girdle muscular dystrophy R12' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Anoctamin-5-related limb-girdle muscular dystrophy R12' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of fukutin' Class: http://www.orpha.net/ORDO/Orphanet_319569 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' Class: http://www.orpha.net/ORDO/Orphanet_199260 Label(s): Calcifying aponeurotic fibroma + 'Calcifying aponeurotic fibroma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial fibromatosis' Class: http://www.orpha.net/ORDO/Orphanet_2752 Label(s): Orofaciodigital syndrome type 3 + 'Orofaciodigital syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Orofaciodigital syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Orofaciodigital syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'Orofaciodigital syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_357074 Label(s): Autosomal recessive cutis laxa type 2, classic type + 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cutis laxa type 2A' Class: http://www.orpha.net/ORDO/Orphanet_2596 Label(s): Myopathy and diabetes mellitus + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular lipidosis' + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other rare diabetes mellitus' + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA-related mitochondrial myopathy' + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_2591 Label(s): Infantile myofibromatosis + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Muscular tumor' + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic soft tissue tumor' + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_2590 Label(s): Spinal muscular atrophy-progressive myoclonic epilepsy syndrome + 'Spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive myoclonic epilepsy' + 'Spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_86852 Label(s): B-cell prolymphocytic leukemia + 'B-cell prolymphocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_86850 Label(s): Myeloid sarcoma + 'Myeloid sarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_199251 Label(s): Ledderhose disease + 'Ledderhose disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial fibromatosis' Class: http://www.orpha.net/ORDO/Orphanet_319552 Label(s): Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency + 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_402823 Label(s): Hepatitis delta + 'Hepatitis delta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' + 'Hepatitis delta' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hepatic disease' Class: http://www.orpha.net/ORDO/Orphanet_624216 Label(s): Non-specific autoimmune brainstem encephalitis without characteristic antibodies + 'Non-specific autoimmune brainstem encephalitis without characteristic antibodies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_280315 Label(s): Autoimmune pancreatitis type 2 + 'Autoimmune pancreatitis type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_357064 Label(s): Autosomal recessive cutis laxa type 2B + 'Autosomal recessive cutis laxa type 2B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cutis laxa type 2' Class: http://www.orpha.net/ORDO/Orphanet_86849 Label(s): Acute basophilic leukemia + 'Acute basophilic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_2585 Label(s): Ataxia-pancytopenia syndrome + 'Ataxia-pancytopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic medullar disease' + 'Ataxia-pancytopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_2584 Label(s): Classic mycosis fungoides + 'Classic mycosis fungoides' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mycosis fungoides and variants' Class: http://www.orpha.net/ORDO/Orphanet_199247 Label(s): Corticosteroid-binding globulin deficiency + 'Corticosteroid-binding globulin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare adrenal disease' + 'Corticosteroid-binding globulin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Serpinopathy with loss of serpin function' + 'Corticosteroid-binding globulin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic adrenal disease' Class: http://www.orpha.net/ORDO/Orphanet_199241 Label(s): Pulmonary capillary hemangiomatosis + 'Pulmonary capillary hemangiomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' Class: http://www.orpha.net/ORDO/Orphanet_357058 Label(s): Autosomal recessive cutis laxa type 2A + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Defect in V-ATPase' + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cutis laxa type 2' + 'Autosomal recessive cutis laxa type 2A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_1661 Label(s): X-linked corneal dermoid + 'X-linked corneal dermoid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the pupil' + 'X-linked corneal dermoid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' + 'X-linked corneal dermoid' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_2576 Label(s): Mulibrey nanism + 'Mulibrey nanism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Mulibrey nanism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_2574 Label(s): Moynahan syndrome + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_2572 Label(s): Spastic ataxia-corneal dystrophy syndrome + 'Spastic ataxia-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive spastic ataxia' + 'Spastic ataxia-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Spastic ataxia-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Spastic ataxia-corneal dystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_86834 Label(s): Juvenile myelomonocytic leukemia + 'Juvenile myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelodysplastic/myeloproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_2570 Label(s): Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome + 'Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_289527 Label(s): OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency + 'OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Isolated complex I deficiency' Class: http://www.orpha.net/ORDO/Orphanet_598603 Label(s): Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome + 'Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypertrichosis' + 'Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_357043 Label(s): Amyotrophic lateral sclerosis type 4 + 'Amyotrophic lateral sclerosis type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Amyotrophic lateral sclerosis type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' + 'Amyotrophic lateral sclerosis type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_79157 Label(s): 2-methylbutyryl-CoA dehydrogenase deficiency + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic organic aciduria' + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_79156 Label(s): Seizures-intellectual disability due to hydroxylysinuria syndrome + 'Seizures-intellectual disability due to hydroxylysinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Seizures-intellectual disability due to hydroxylysinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Seizures-intellectual disability due to hydroxylysinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Seizures-intellectual disability due to hydroxylysinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lysine and hydroxylysine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_79155 Label(s): Hydroxykynureninuria + 'Hydroxykynureninuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Hydroxykynureninuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of tryptophan metabolism' Class: http://www.orpha.net/ORDO/Orphanet_86829 Label(s): Chronic neutrophilic leukemia + 'Chronic neutrophilic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloproliferative neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_2565 Label(s): Mononen-Karnes-Senac syndrome + 'Mononen-Karnes-Senac syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_79152 Label(s): Disseminated superficial actinic porokeratosis + 'Disseminated superficial actinic porokeratosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Porokeratosis' + 'Disseminated superficial actinic porokeratosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic porokeratosis' Class: http://www.orpha.net/ORDO/Orphanet_79151 Label(s): Acrokeratosis verruciformis of Hopf + 'Acrokeratosis verruciformis of Hopf' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acrokeratoderma' + 'Acrokeratosis verruciformis of Hopf' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic acrokeratoderma' Class: http://www.orpha.net/ORDO/Orphanet_79150 Label(s): Linear and whorled nevoid hypermelanosis + 'Linear and whorled nevoid hypermelanosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Linear and whorled nevoid hypermelanosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_2561 Label(s): Pyramidal molars-abnormal upper lip syndrome + 'Pyramidal molars-abnormal upper lip syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Pyramidal molars-abnormal upper lip syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Pyramidal molars-abnormal upper lip syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Pyramidal molars-abnormal upper lip syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Pyramidal molars-abnormal upper lip syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_86821 Label(s): Lissencephaly type 3-familial fetal akinesia sequence syndrome + 'Lissencephaly type 3-familial fetal akinesia sequence syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lissencephaly type 3' Class: http://www.orpha.net/ORDO/Orphanet_86820 Label(s): Familial avascular necrosis of femoral head + 'Familial avascular necrosis of femoral head' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Avascular necrosis of genetic origin' + 'Familial avascular necrosis of femoral head' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary avascular necrosis' + 'Familial avascular necrosis of femoral head' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_319524 Label(s): Combined oxidative phosphorylation defect type 15 + 'Combined oxidative phosphorylation defect type 15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_90186 Label(s): Meige disease + 'Meige disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Late-onset primary lymphedema without systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_90185 Label(s): Non-hereditary late-onset primary lymphedema + 'Non-hereditary late-onset primary lymphedema' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Meige disease' Class: http://www.orpha.net/ORDO/Orphanet_357034 Label(s): Non-hereditary retinoblastoma + 'Non-hereditary retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinoblastoma' Class: http://www.orpha.net/ORDO/Orphanet_79149 Label(s): Dermochondrocorneal dystrophy + 'Dermochondrocorneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic corneal dystrophy' + 'Dermochondrocorneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' + 'Dermochondrocorneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_79148 Label(s): Elastosis perforans serpiginosa + 'Elastosis perforans serpiginosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_79147 Label(s): Familial reactive perforating collagenosis + 'Familial reactive perforating collagenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dermis elastic tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_79146 Label(s): Familial progressive hyperpigmentation + 'Familial progressive hyperpigmentation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Familial progressive hyperpigmentation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_2556 Label(s): Microphthalmia with linear skin defects syndrome + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mixed dermis disorder' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic mixed dermis disorder' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_86818 Label(s): Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome + 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional hemolytic anemia' + 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome X' + 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_41751 Label(s): Bietti crystalline dystrophy + 'Bietti crystalline dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' + 'Bietti crystalline dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated chorioretinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_86816 Label(s): Congenital analbuminemia + 'Congenital analbuminemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic hematologic disease' + 'Congenital analbuminemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hematologic disease' Class: http://www.orpha.net/ORDO/Orphanet_86815 Label(s): Aplasia of lacrimal and salivary glands + 'Aplasia of lacrimal and salivary glands' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital alacrima' Class: http://www.orpha.net/ORDO/Orphanet_2551 Label(s): Microspherophakia-metaphyseal dysplasia syndrome + 'Microspherophakia-metaphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Microspherophakia-metaphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic ectopia lentis' + 'Microspherophakia-metaphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' + 'Microspherophakia-metaphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microspherophakia' + 'Microspherophakia-metaphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_86813 Label(s): Helicoid peripapillary chorioretinal degeneration + 'Helicoid peripapillary chorioretinal degeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated chorioretinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_86812 Label(s): POMT1-related limb-girdle muscular dystrophy R11 + 'POMT1-related limb-girdle muscular dystrophy R11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'POMT1-related limb-girdle muscular dystrophy R11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'POMT1-related limb-girdle muscular dystrophy R11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'POMT1-related limb-girdle muscular dystrophy R11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' + 'POMT1-related limb-girdle muscular dystrophy R11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_319519 Label(s): Combined oxidative phosphorylation defect type 14 + 'Combined oxidative phosphorylation defect type 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_216812 Label(s): Osteogenesis imperfecta type 3 + 'Osteogenesis imperfecta type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteogenesis imperfecta' + 'Osteogenesis imperfecta type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Osteogenesis imperfecta type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with dentinogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_420492 Label(s): Adult-onset cervical dystonia, DYT23 type + 'Adult-onset cervical dystonia, DYT23 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_357027 Label(s): Hereditary retinoblastoma + 'Hereditary retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinoblastoma' + 'Hereditary retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic eye tumor' + 'Hereditary retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79139 Label(s): Japanese encephalitis + 'Japanese encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious encephalitis' + 'Japanese encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_79138 Label(s): Bickerstaff brainstem encephalitis + 'Bickerstaff brainstem encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Regional variant of Guillain-Barré syndrome' + 'Bickerstaff brainstem encephalitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_79136 Label(s): Episodic ataxia type 4 + 'Episodic ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary episodic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_79134 Label(s): DEND syndrome + 'DEND syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epilepsy syndrome' + 'DEND syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neonatal diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_79132 Label(s): OBSOLETE: Sparse hair-short stature-skin anomalies syndrome + 'OBSOLETE: Sparse hair-short stature-skin anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Thumb deformity-alopecia-pigmentation anomaly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_327283 Label(s): glutamate metabotropic receptor 1 + 'glutamate metabotropic receptor 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_631095 Class: http://www.orpha.net/ORDO/Orphanet_319509 Label(s): Combined oxidative phosphorylation defect type 9 + 'Combined oxidative phosphorylation defect type 9' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_169467 Label(s): Recurrent Neisseria infections due to factor D deficiency + 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to a complement regulatory deficiency' Class: http://www.orpha.net/ORDO/Orphanet_439232 Label(s): AApoAIV amyloidosis + 'AApoAIV amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'AApoAIV amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_169464 Label(s): Primary CD59 deficiency + 'Primary CD59 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic peripheral neuropathy' + 'Primary CD59 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency due to a complement regulatory deficiency' + 'Primary CD59 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' Class: http://www.orpha.net/ORDO/Orphanet_37202 Label(s): Interstitial cystitis + 'Interstitial cystitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urogenital disease' Class: http://www.orpha.net/ORDO/Orphanet_329481 Label(s): Lipoprotein glomerulopathy + 'Lipoprotein glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic systemic disease with glomerulopathy as a major feature' + 'Lipoprotein glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic dyslipidemia' Class: http://www.orpha.net/ORDO/Orphanet_98987 Label(s): OBSOLETE: Cataract, Hutterite type + 'OBSOLETE: Cataract, Hutterite type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_90160 Label(s): Pressure-induced localized lipoatrophy + 'Pressure-induced localized lipoatrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_79127 Label(s): Respiratory bronchiolitis-interstitial lung disease syndrome + 'Respiratory bronchiolitis-interstitial lung disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_79126 Label(s): Acute interstitial pneumonia + 'Acute interstitial pneumonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic interstitial pneumonia' Class: http://www.orpha.net/ORDO/Orphanet_98983 Label(s): OBSOLETE: Congenital cataract, Volkmann type + 'OBSOLETE: Congenital cataract, Volkmann type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_79124 Label(s): Hepatic veno-occlusive disease-immunodeficiency syndrome + 'Hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic hepatic disease' + 'Hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular liver disease' Class: http://www.orpha.net/ORDO/Orphanet_98981 Label(s): Essential iris atrophy + 'Essential iris atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Iridocorneal endothelial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98980 Label(s): Cogan-Reese syndrome + 'Cogan-Reese syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Iridocorneal endothelial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_247262 Label(s): Hyperphosphatasia-intellectual disability syndrome + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation-related bone disorder' + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_254930 Label(s): Combined oxidative phosphorylation defect type 7 + 'Combined oxidative phosphorylation defect type 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'C12ORF65-related combined oxidative phosphorylation defect' Class: http://www.orpha.net/ORDO/Orphanet_49382 Label(s): Achromatopsia + 'Achromatopsia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' + 'Achromatopsia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Color-vision disease' Class: http://www.orpha.net/ORDO/Orphanet_439224 Label(s): ALECT2 amyloidosis + 'ALECT2 amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_329478 Label(s): Adult-onset distal myopathy due to VCP mutation + 'Adult-onset distal myopathy due to VCP mutation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_90159 Label(s): Panniculitis-induced localized lipodystrophy + 'Panniculitis-induced localized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_90158 Label(s): Idiopathic localized lipodystrophy + 'Idiopathic localized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_90157 Label(s): Drug-induced localized lipodystrophy + 'Drug-induced localized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Localized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_357008 Label(s): Hemolytic uremic syndrome with DGKE deficiency + 'Hemolytic uremic syndrome with DGKE deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic uremic syndrome' + 'Hemolytic uremic syndrome with DGKE deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hemolytic uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90154 Label(s): Mandibuloacral dysplasia with type B lipodystrophy + 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mandibuloacral dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_90153 Label(s): Mandibuloacral dysplasia with type A lipodystrophy + 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mandibuloacral dysplasia' + 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98978 Label(s): Axenfeld anomaly + 'Axenfeld anomaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental anomaly without extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_98977 Label(s): Juvenile glaucoma + 'Juvenile glaucoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary early-onset glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_79118 Label(s): Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome + 'Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' Class: http://www.orpha.net/ORDO/Orphanet_98975 Label(s): Congenital hereditary endothelial dystrophy type I + 'Congenital hereditary endothelial dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Posterior corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2528 Label(s): Microcephaly-microcornea syndrome, Seemanova type + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98973 Label(s): Posterior polymorphous corneal dystrophy + 'Posterior polymorphous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic congenital malformation of the eye with glaucoma as a major feature' + 'Posterior polymorphous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Posterior corneal dystrophy' + 'Posterior polymorphous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital malformation of the eye with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98972 Label(s): Central cloudy dystrophy of François + 'Central cloudy dystrophy of François' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98971 Label(s): Posterior amorphous corneal dystrophy + 'Posterior amorphous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98970 Label(s): Fleck corneal dystrophy + 'Fleck corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2523 Label(s): Microcephaly-brain defect-spasticity-hypernatremia syndrome + 'Microcephaly-brain defect-spasticity-hypernatremia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Microcephaly-brain defect-spasticity-hypernatremia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-brain defect-spasticity-hypernatremia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2522 Label(s): Microcephaly-cervical spine fusion anomalies syndrome + 'Microcephaly-cervical spine fusion anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-cervical spine fusion anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-cervical spine fusion anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2521 Label(s): Microcephaly-cleft palate-abnormal retinal pigmentation syndrome + 'Microcephaly-cleft palate-abnormal retinal pigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-cleft palate-abnormal retinal pigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Microcephaly-cleft palate-abnormal retinal pigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_254925 Label(s): Combined oxidative phosphorylation defect type 4 + 'Combined oxidative phosphorylation defect type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_566231 Label(s): Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha + 'Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome of reduced sensitivity to thyroid hormone' Class: http://www.orpha.net/ORDO/Orphanet_254920 Label(s): Combined oxidative phosphorylation defect type 2 + 'Combined oxidative phosphorylation defect type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_289176 Label(s): Autosomal recessive hypophosphatemic rickets + 'Autosomal recessive hypophosphatemic rickets' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatemic rickets' Class: http://www.orpha.net/ORDO/Orphanet_439212 Label(s): Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome + 'Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_329469 Label(s): Acute megakaryoblastic leukemia without Down syndrome + 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute megakaryoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_329466 Label(s): Autosomal dominant focal dystonia, DYT25 type + 'Autosomal dominant focal dystonia, DYT25 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_2818 Label(s): Spastic paraplegia-glaucoma-intellectual disability syndrome + 'Spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' + 'Spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139380 Label(s): OBSOLETE: Recessive hereditary methemoglobinemia type 2 + 'OBSOLETE: Recessive hereditary methemoglobinemia type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary methemoglobinemia' Class: http://www.orpha.net/ORDO/Orphanet_98968 Label(s): Central discoid corneal dystrophy + 'Central discoid corneal dystrophy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Schnyder corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98967 Label(s): Schnyder corneal dystrophy + 'Schnyder corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2796 Label(s): Pachydermoperiostosis + 'Pachydermoperiostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other genetic dermis disorder' + 'Pachydermoperiostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary hypertrophic osteoarthropathy' + 'Pachydermoperiostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_79107 Label(s): Developmental malformations-deafness-dystonia syndrome + 'Developmental malformations-deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Developmental malformations-deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Developmental malformations-deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Developmental malformations-deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with dystonia and other neurologic or systemic manifestation' + 'Developmental malformations-deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Developmental malformations-deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98962 Label(s): Granular corneal dystrophy type I + 'Granular corneal dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_247245 Label(s): Superficial siderosis + 'Superficial siderosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired ataxia' Class: http://www.orpha.net/ORDO/Orphanet_79102 Label(s): Thyrotoxic periodic paralysis + 'Thyrotoxic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Periodic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_79101 Label(s): Hyperprolinemia type 2 + 'Hyperprolinemia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of proline metabolism' + 'Hyperprolinemia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amino acid or protein metabolism disease with epilepsy' + 'Hyperprolinemia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_2511 Label(s): Microbrachycephaly-ptosis-cleft lip syndrome + 'Microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2510 Label(s): Micro syndrome + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with lissencephaly as a major feature' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_254913 Label(s): Isolated ATP synthase deficiency + 'Isolated ATP synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated oxidative phosphorylation complex disorder' Class: http://www.orpha.net/ORDO/Orphanet_439202 Label(s): Non-recovering obstetric brachial plexus lesion + 'Non-recovering obstetric brachial plexus lesion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_168950 Label(s): Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement + 'Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' Class: http://www.orpha.net/ORDO/Orphanet_47159 Label(s): Proximal renal tubular acidosis + 'Proximal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_163971 Label(s): X-linked intellectual disability, Cilliers type + 'X-linked intellectual disability, Cilliers type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Cilliers type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with hypergonadotropic hypogonadism' + 'X-linked intellectual disability, Cilliers type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98959 Label(s): Subepithelial mucinous corneal dystrophy + 'Subepithelial mucinous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic superficial corneal dystrophy' + 'Subepithelial mucinous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98957 Label(s): Gelatinous drop-like corneal dystrophy + 'Gelatinous drop-like corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' + 'Gelatinous drop-like corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98956 Label(s): Epithelial basement membrane dystrophy + 'Epithelial basement membrane dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' + 'Epithelial basement membrane dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98955 Label(s): Lisch epithelial corneal dystrophy + 'Lisch epithelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Superficial corneal dystrophy' + 'Lisch epithelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2508 Label(s): Corpus callosum agenesis-abnormal genitalia syndrome + 'Corpus callosum agenesis-abnormal genitalia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'ARX-related encephalopathy-brain malformation spectrum' Class: http://www.orpha.net/ORDO/Orphanet_2507 Label(s): OBSOLETE: Mickleson syndrome + 'OBSOLETE: Mickleson syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2506 Label(s): Michels syndrome + 'Michels syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '3MC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98951 Label(s): Inverse Marcus-Gunn phenomenon + 'Inverse Marcus-Gunn phenomenon' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marcus-Gunn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_247234 Label(s): Sporadic adult-onset ataxia of unknown etiology + 'Sporadic adult-onset ataxia of unknown etiology' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-hereditary degenerative ataxia' Class: http://www.orpha.net/ORDO/Orphanet_2502 Label(s): Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome + 'Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' + 'Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_2501 Label(s): Metaphyseal chondrodysplasia, Spahr type + 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_254905 Label(s): Isolated cytochrome C oxidase deficiency + 'Isolated cytochrome C oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated oxidative phosphorylation complex disorder' Class: http://www.orpha.net/ORDO/Orphanet_254902 Label(s): Renal tubulopathy-encephalopathy-liver failure syndrome + 'Renal tubulopathy-encephalopathy-liver failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Renal tubulopathy-encephalopathy-liver failure syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_289157 Label(s): Hypocalcemic vitamin D-dependent rickets + 'Hypocalcemic vitamin D-dependent rickets' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypocalcemic rickets' Class: http://www.orpha.net/ORDO/Orphanet_2833 Label(s): Stiff skin syndrome + 'Stiff skin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified genetic skin disorder' Class: http://www.orpha.net/ORDO/Orphanet_98949 Label(s): Complete cryptophthalmia + 'Complete cryptophthalmia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated cryptophthalmia' Class: http://www.orpha.net/ORDO/Orphanet_98947 Label(s): Coloboma of optic disc + 'Coloboma of optic disc' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital optic disc excavation of genetic origin' + 'Coloboma of optic disc' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital optic disc excavation' Class: http://www.orpha.net/ORDO/Orphanet_90120 Label(s): Hereditary motor and sensory neuropathy type 6 + 'Hereditary motor and sensory neuropathy type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' + 'Hereditary motor and sensory neuropathy type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98945 Label(s): Coloboma of macula + 'Coloboma of macula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic macular disorder' + 'Coloboma of macula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic developmental defect of the eye' + 'Coloboma of macula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare macular disorder' + 'Coloboma of macula' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_98944 Label(s): Coloboma of iris + 'Coloboma of iris' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental anomaly without extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_98942 Label(s): Coloboma of choroid and retina + 'Coloboma of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the posterior segment of the eye' + 'Coloboma of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder of the posterior segment of the eye' + 'Coloboma of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental defect of the eye' + 'Coloboma of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_98941 Label(s): OBSOLETE: Von Hippel anomaly + 'OBSOLETE: Von Hippel anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_66627 Label(s): Tenosynovial giant cell tumor + 'Tenosynovial giant cell tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_139402 Label(s): Drug reaction with eosinophilia and systemic symptoms + 'Drug reaction with eosinophilia and systemic symptoms' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Toxic dermatosis' Class: http://www.orpha.net/ORDO/Orphanet_98568 Label(s): OBSOLETE: Congenital entropion + 'OBSOLETE: Congenital entropion' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare disorder with entropion' Class: http://www.orpha.net/ORDO/Orphanet_420485 Label(s): Cranio-cervical dystonia with laryngeal and upper-limb involvement + 'Cranio-cervical dystonia with laryngeal and upper-limb involvement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_466703 Label(s): TMEM199-CDG + 'TMEM199-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypercholesterolemia' + 'TMEM199-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_90119 Label(s): Hereditary motor and sensory neuropathy with acrodystrophy + 'Hereditary motor and sensory neuropathy with acrodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_90118 Label(s): Severe early-onset axonal neuropathy due to MFN2 deficiency + 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_90117 Label(s): Hereditary motor and sensory neuropathy, Okinawa type + 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98938 Label(s): Colobomatous microphthalmia + 'Colobomatous microphthalmia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_98934 Label(s): Huntington disease-like 2 + 'Huntington disease-like 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neuroacanthocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98933 Label(s): Multiple system atrophy, parkinsonian type + 'Multiple system atrophy, parkinsonian type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Multiple system atrophy, parkinsonian type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple system atrophy' Class: http://www.orpha.net/ORDO/Orphanet_98932 Label(s): OBSOLETE: Shy-Drager syndrome + 'OBSOLETE: Shy-Drager syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple system atrophy' Class: http://www.orpha.net/ORDO/Orphanet_494348 Label(s): Early-onset familial noncirrhotic portal hypertension + 'Early-onset familial noncirrhotic portal hypertension' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Portosinusoidal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_494344 Label(s): RERE-related neurodevelopmental syndrome + 'RERE-related neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'RERE-related neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_180154 Label(s): Septate vagina + 'Septate vagina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2850 Label(s): Alopecia-intellectual disability syndrome + 'Alopecia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic alopecia' + 'Alopecia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alopecia' + 'Alopecia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2856 Label(s): Persistent Müllerian duct syndrome + 'Persistent Müllerian duct syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with obstructive azoospermia' + 'Persistent Müllerian duct syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with obstructive azoospermia' + 'Persistent Müllerian duct syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XY disorder of sex development of endocrine origin' Class: http://www.orpha.net/ORDO/Orphanet_500481 Label(s): Squamous cell carcinoma of salivary glands + 'Squamous cell carcinoma of salivary glands' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malignant epithelial tumor of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_309025 Label(s): Mevalonate kinase deficiency + 'Mevalonate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary periodic fever syndrome' + 'Mevalonate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Mevalonate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sterol biosynthesis disorder' + 'Mevalonate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_352497 Label(s): OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency + 'OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical juvenile parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_98920 Label(s): Spinal muscular atrophy with respiratory distress type 1 + 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_247203 Label(s): Collecting duct carcinoma + 'Collecting duct carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_1799 Label(s): Familial developmental dysphasia + 'Familial developmental dysphasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Specific language disorder' Class: http://www.orpha.net/ORDO/Orphanet_217467 Label(s): Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency + 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary thrombophilia' Class: http://www.orpha.net/ORDO/Orphanet_500478 Label(s): Squamous cell carcinoma of the oropharynx + 'Squamous cell carcinoma of the oropharynx' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_2864 Label(s): OBSOLETE: Short stature-prognathism-short femoral necks syndrome + 'OBSOLETE: Short stature-prognathism-short femoral necks syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_325004 Label(s): CANDLE syndrome + 'CANDLE syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Proteasome-associated autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2867 Label(s): Short stature, Brussels type + 'Short stature, Brussels type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_2868 Label(s): Short stature-valvular heart disease-characteristic facies syndrome + 'Short stature-valvular heart disease-characteristic facies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Short stature-valvular heart disease-characteristic facies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2869 Label(s): Peutz-Jeghers syndrome + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal polyposis' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited gynecological cancer-predisposing syndrome' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic digestive tract tumor' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal polyposis syndrome' + 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_410008 Label(s): Azerbaijan - 'Azerbaijan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_98918 Label(s): Acute motor axonal neuropathy + 'Acute motor axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Guillain-Barré syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98917 Label(s): Acute motor and sensory axonal neuropathy + 'Acute motor and sensory axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Guillain-Barré syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98916 Label(s): Acute inflammatory demyelinating polyradiculoneuropathy + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Guillain-Barré syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101097 Label(s): Autosomal recessive Charcot-Marie-Tooth disease with hoarseness + 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98913 Label(s): Postsynaptic congenital myasthenic syndromes + 'Postsynaptic congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital myasthenic syndrome' + 'Postsynaptic congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic sodium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_98912 Label(s): Late-onset distal myopathy, Markesbery-Griggs type + 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein ZASP' + 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myofibrillar myopathy' + 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98911 Label(s): Distal myotilinopathy + 'Distal myotilinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' + 'Distal myotilinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myotilinopathy' Class: http://www.orpha.net/ORDO/Orphanet_101092 Label(s): Hyper-IgM syndrome type 5 + 'Hyper-IgM syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyper-IgM syndrome without susceptibility to opportunistic infections' Class: http://www.orpha.net/ORDO/Orphanet_101091 Label(s): Hyper-IgM syndrome type 4 + 'Hyper-IgM syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyper-IgM syndrome without susceptibility to opportunistic infections' Class: http://www.orpha.net/ORDO/Orphanet_101090 Label(s): Hyper-IgM syndrome type 3 + 'Hyper-IgM syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyper-IgM syndrome with susceptibility to opportunistic infections' Class: http://www.orpha.net/ORDO/Orphanet_459056 Label(s): Autosomal recessive spastic paraplegia type 75 + 'Autosomal recessive spastic paraplegia type 75' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive spastic paraplegia type 75' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_59298 Label(s): Schilder disease + 'Schilder disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple sclerosis variant' Class: http://www.orpha.net/ORDO/Orphanet_2874 Label(s): Phakomatosis pigmentokeratotica + 'Phakomatosis pigmentokeratotica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' + 'Phakomatosis pigmentokeratotica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with hamartosis' + 'Phakomatosis pigmentokeratotica' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic nevus' Class: http://www.orpha.net/ORDO/Orphanet_500464 Label(s): Squamous cell carcinoma of the nasal cavity and paranasal sinuses + 'Squamous cell carcinoma of the nasal cavity and paranasal sinuses' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_620192 Label(s): Non-syndromic metopic and sagittal craniosynostosis + 'Non-syndromic metopic and sagittal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_2878 Label(s): Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome + 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' + 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_98908 Label(s): Neutral lipid storage myopathy + 'Neutral lipid storage myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neutral lipid storage disease' Class: http://www.orpha.net/ORDO/Orphanet_101089 Label(s): Hyper-IgM syndrome type 2 + 'Hyper-IgM syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyper-IgM syndrome without susceptibility to opportunistic infections' Class: http://www.orpha.net/ORDO/Orphanet_101088 Label(s): X-linked hyper-IgM syndrome + 'X-linked hyper-IgM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyper-IgM syndrome with susceptibility to opportunistic infections' Class: http://www.orpha.net/ORDO/Orphanet_98905 Label(s): Congenital multicore myopathy with external ophthalmoplegia + 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological muscular channelopathy due to a genetic ryanodine receptor defect' + 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiminicore myopathy' Class: http://www.orpha.net/ORDO/Orphanet_101085 Label(s): Charcot-Marie-Tooth disease type 1F + 'Charcot-Marie-Tooth disease type 1F' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 1' Class: http://www.orpha.net/ORDO/Orphanet_101084 Label(s): Charcot-Marie-Tooth disease type 1D + 'Charcot-Marie-Tooth disease type 1D' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 1' Class: http://www.orpha.net/ORDO/Orphanet_101082 Label(s): Charcot-Marie-Tooth disease type 1B + 'Charcot-Marie-Tooth disease type 1B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 1' Class: http://www.orpha.net/ORDO/Orphanet_101081 Label(s): Charcot-Marie-Tooth disease type 1A + 'Charcot-Marie-Tooth disease type 1A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome 17' + 'Charcot-Marie-Tooth disease type 1A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 1' Class: http://www.orpha.net/ORDO/Orphanet_289553 Label(s): Dysmorphism-conductive hearing loss-heart defect syndrome + 'Dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_64752 Label(s): Hereditary sensory and autonomic neuropathy type 5 + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_64751 Label(s): Hereditary motor and sensory neuropathy type 5 + 'Hereditary motor and sensory neuropathy type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_410011 Label(s): Bangladesh - 'Bangladesh' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_2005 Label(s): OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome + 'OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Laryngotracheoesophageal cleft type 4' Class: http://www.orpha.net/ORDO/Orphanet_410013 Label(s): Belarus - 'Belarus' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_620186 Label(s): Non-syndromic unicoronal and sagittal craniosynostosis + 'Non-syndromic unicoronal and sagittal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_2886 Label(s): TARP syndrome + 'TARP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndromic Pierre Robin syndrome' + 'TARP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' + 'TARP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'TARP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with Pierre Robin syndrome' + 'TARP syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_275543 Label(s): L1 syndrome + 'L1 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'L1 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'L1 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2888 Label(s): Pierre Robin syndrome-faciodigital anomaly syndrome + 'Pierre Robin syndrome-faciodigital anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2889 Label(s): Pili torti + 'Pili torti' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_240901 Label(s): OBSOLETE: Fosphenytoin toxicity + 'OBSOLETE: Fosphenytoin toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of phenytoin or carbamazepine toxicity' Class: http://www.orpha.net/ORDO/Orphanet_101078 Label(s): X-linked Charcot-Marie-Tooth disease type 4 + 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_101077 Label(s): X-linked Charcot-Marie-Tooth disease type 3 + 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_101076 Label(s): X-linked Charcot-Marie-Tooth disease type 2 + 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_101075 Label(s): X-linked Charcot-Marie-Tooth disease type 1 + 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_466775 Label(s): Autosomal recessive Charcot-Marie-Tooth disease type 2X + 'Autosomal recessive Charcot-Marie-Tooth disease type 2X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_101070 Label(s): Bilateral frontoparietal polymicrogyria + 'Bilateral frontoparietal polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bilateral polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_64744 Label(s): IgG4-related thyroid disease + 'IgG4-related thyroid disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare adult hypothyroidism' + 'IgG4-related thyroid disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'IgG4-related systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_64743 Label(s): Hepatoportal sclerosis + 'Hepatoportal sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Portosinusoidal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_64742 Label(s): Pleuropulmonary blastoma + 'Pleuropulmonary blastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bronchopulmonary tumor' Class: http://www.orpha.net/ORDO/Orphanet_64741 Label(s): Pulmonary blastoma + 'Pulmonary blastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bronchopulmonary tumor' Class: http://www.orpha.net/ORDO/Orphanet_620178 Label(s): Non-syndromic bilambdoid craniosynostosis + 'Non-syndromic bilambdoid craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_544578 Label(s): Congenital primary megaureter, refluxing and obstructed form + 'Congenital primary megaureter, refluxing and obstructed form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital primary megaureter' Class: http://www.orpha.net/ORDO/Orphanet_2892 Label(s): Pilodental dysplasia-refractive errors syndrome + 'Pilodental dysplasia-refractive errors syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Pilodental dysplasia-refractive errors syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Pilodental dysplasia-refractive errors syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2894 Label(s): OBSOLETE: Pilotto syndrome + 'OBSOLETE: Pilotto syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2895 Label(s): Pinsky-Di George-Harley syndrome + 'Pinsky-Di George-Harley syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Micro syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2896 Label(s): Pitt-Hopkins syndrome + 'Pitt-Hopkins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pitt-Hopkins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Pitt-Hopkins syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2898 Label(s): X-linked intellectual disability-plagiocephaly syndrome + 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_101068 Label(s): Congenital stromal corneal dystrophy + 'Congenital stromal corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_466768 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2Z + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Z' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_64739 Label(s): Ovarian hyperstimulation syndrome + 'Ovarian hyperstimulation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic gynecological and obstetrical diseases' + 'Ovarian hyperstimulation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare non-malformative uterine adnexal disease' Class: http://www.orpha.net/ORDO/Orphanet_101063 Label(s): Situs inversus totalis + 'Situs inversus totalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic visceral malformation' + 'Situs inversus totalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heterotaxia' + 'Situs inversus totalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2745 Label(s): Opitz GBBB syndrome + 'Opitz GBBB syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' + 'Opitz GBBB syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Opitz GBBB syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic respiratory or mediastinal malformation' + 'Opitz GBBB syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Opitz GBBB syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic telecanthus' + 'Opitz GBBB syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99817 Label(s): Non-polyposis Turcot syndrome + 'Non-polyposis Turcot syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Lynch syndrome' Class: http://www.orpha.net/ORDO/Orphanet_64734 Label(s): Iridocorneal endothelial syndrome + 'Iridocorneal endothelial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic congenital malformation of the eye with glaucoma as a major feature' + 'Iridocorneal endothelial syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital malformation of the eye with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_457284 Label(s): Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome + 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_96055 Label(s): Tetrasomy 21 + 'Tetrasomy 21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial autosomal trisomy/tetrasomy' Class: http://www.orpha.net/ORDO/Orphanet_99723 Label(s): OBSOLETE: Familial esophageal achalasia + 'OBSOLETE: Familial esophageal achalasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Idiopathic achalasia' Class: http://www.orpha.net/ORDO/Orphanet_420429 Label(s): Glycogen storage disease due to acid maltase deficiency, late-onset + 'Glycogen storage disease due to acid maltase deficiency, late-onset' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease due to acid maltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_498700 Label(s): OBSOLETE: Limbic encephalitis with neurexin-3 antibodies + 'OBSOLETE: Limbic encephalitis with neurexin-3 antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_1810 Label(s): Autosomal dominant hypohidrotic ectodermal dysplasia + 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypohidrotic ectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1811 Label(s): Odontomicronychial dysplasia + 'Odontomicronychial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Odontomicronychial dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2010 Label(s): Cleft palate-stapes fixation-oligodontia syndrome + 'Cleft palate-stapes fixation-oligodontia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Cleft palate-stapes fixation-oligodontia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_101052 Label(s): OBSOLETE: Microlissencephaly type B + 'OBSOLETE: Microlissencephaly type B' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Microlissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_101050 Label(s): Familial hypocalciuric hypercalcemia type 3 + 'Familial hypocalciuric hypercalcemia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial hypocalciuric hypercalcemia' Class: http://www.orpha.net/ORDO/Orphanet_269505 Label(s): Congenital communicating hydrocephalus + 'Congenital communicating hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_64722 Label(s): Granulomatous mastitis + 'Granulomatous mastitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare non-malformative breast disease' Class: http://www.orpha.net/ORDO/Orphanet_240919 Label(s): OBSOLETE: Venlafaxine toxicity + 'OBSOLETE: Venlafaxine toxicity' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_64720 Label(s): Leiomyosarcoma + 'Leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Epstein-Barr Virus-associated mesenchymal tumor' + 'Leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_622099 Label(s): Superior mesenteric artery syndrome + 'Superior mesenteric artery syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' + 'Superior mesenteric artery syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare abdominal surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_620158 Label(s): Non-syndromic non-specific multisutural craniosynostosis + 'Non-syndromic non-specific multisutural craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic multisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_466718 Label(s): Martinique crinkled retinal pigment epitheliopathy + 'Martinique crinkled retinal pigment epitheliopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_217410 Label(s): OBSOLETE: Circumscribed lymphatic malformation + 'OBSOLETE: Circumscribed lymphatic malformation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Macrocystic lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_93217 Label(s): OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis + 'OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95702 Label(s): X-linked adrenal hypoplasia congenita + 'X-linked adrenal hypoplasia congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal hypoplasia congenita' + 'X-linked adrenal hypoplasia congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_95706 Label(s): Non-syndromic posterior hypospadias + 'Non-syndromic posterior hypospadias' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of male' + 'Non-syndromic posterior hypospadias' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_459074 Label(s): Corpus callosum agenesis-macrocephaly-hypertelorism syndrome + 'Corpus callosum agenesis-macrocephaly-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Corpus callosum agenesis-macrocephaly-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Corpus callosum agenesis-macrocephaly-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Corpus callosum agenesis-macrocephaly-hypertelorism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99824 Label(s): Lassa fever + 'Lassa fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_101046 Label(s): Autosomal dominant epilepsy with auditory features + 'Autosomal dominant epilepsy with auditory features' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_459070 Label(s): X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome + 'X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_101043 Label(s): Congenital aortic valve dysplasia + 'Congenital aortic valve dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital aortic valve stenosis' Class: http://www.orpha.net/ORDO/Orphanet_101042 Label(s): OBSOLETE: Taussig-Bing syndrome + 'OBSOLETE: Taussig-Bing syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Double outlet right ventricle with subpulmonary ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_101041 Label(s): Familial hypofibrinogenemia + 'Familial hypofibrinogenemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital fibrinogen deficiency' Class: http://www.orpha.net/ORDO/Orphanet_356996 Label(s): ANK3-related intellectual disability-sleep disturbance syndrome + 'ANK3-related intellectual disability-sleep disturbance syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352582 Label(s): Familial infantile myoclonic epilepsy + 'Familial infantile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Familial infantile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Familial infantile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_410031 Label(s): Canada - 'Canada' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_620146 Label(s): Non-syndromic unisquamosal craniosynostosis + 'Non-syndromic unisquamosal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic unisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_466729 Label(s): Familial patent arterial duct + 'Familial patent arterial duct' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arterial duct anomaly' + 'Familial patent arterial duct' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic vascular anomaly' + 'Familial patent arterial duct' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' Class: http://www.orpha.net/ORDO/Orphanet_420402 Label(s): Semicircular canal dehiscence syndrome + 'Semicircular canal dehiscence syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' Class: http://www.orpha.net/ORDO/Orphanet_238505 Label(s): Combined immunodeficiency due to CD27 deficiency + 'Combined immunodeficiency due to CD27 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95716 Label(s): Familial thyroid dyshormonogenesis + 'Familial thyroid dyshormonogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary congenital hypothyroidism without thyroid developmental anomaly' + 'Familial thyroid dyshormonogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101036 Label(s): OBSOLETE: Zlotogura-Martinez syndrome + 'OBSOLETE: Zlotogura-Martinez syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Cleft lip/palate-ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_459061 Label(s): Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome + 'Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant craniofacial involvement' Class: http://www.orpha.net/ORDO/Orphanet_101033 Label(s): OBSOLETE: Peters anomaly-cataract syndrome + 'OBSOLETE: Peters anomaly-cataract syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Peters anomaly' Class: http://www.orpha.net/ORDO/Orphanet_352577 Label(s): Bainbridge-Ropers syndrome + 'Bainbridge-Ropers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bainbridge-Ropers syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_101030 Label(s): Subependymal nodular heterotopia + 'Subependymal nodular heterotopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nodular neuronal heterotopia' Class: http://www.orpha.net/ORDO/Orphanet_2756 Label(s): Orofaciodigital syndrome type 10 + 'Orofaciodigital syndrome type 10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_466732 Label(s): OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome + 'OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'ALG9-CDG' Class: http://www.orpha.net/ORDO/Orphanet_620139 Label(s): Non-syndromic unifrontosphenoidal craniosynostosis + 'Non-syndromic unifrontosphenoidal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic unisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_99734 Label(s): Myotonia fluctuans + 'Myotonia fluctuans' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Potassium-aggravated myotonia' Class: http://www.orpha.net/ORDO/Orphanet_263413 Label(s): Angiosarcoma + 'Angiosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vascular tumor' + 'Angiosarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_101029 Label(s): Sub-cortical nodular heterotopia + 'Sub-cortical nodular heterotopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nodular neuronal heterotopia' Class: http://www.orpha.net/ORDO/Orphanet_101028 Label(s): Transaldolase deficiency + 'Transaldolase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pentose phosphate metabolism' Class: http://www.orpha.net/ORDO/Orphanet_443162 Label(s): NDE1-related microhydranencephaly + 'NDE1-related microhydranencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'NDE1-related microhydranencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'NDE1-related microhydranencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'NDE1-related microhydranencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_459051 Label(s): Spondyloepiphyseal dysplasia, Stanescu type + 'Spondyloepiphyseal dysplasia, Stanescu type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Spondyloepiphyseal dysplasia, Stanescu type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_120881 Label(s): catenin beta 1 + 'catenin beta 1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Adrenocortical carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_101022 Label(s): Mediterranean macrothrombocytopenia + 'Mediterranean macrothrombocytopenia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Sitosterolemia' Class: http://www.orpha.net/ORDO/Orphanet_466722 Label(s): Autosomal recessive spastic paraplegia type 77 + 'Autosomal recessive spastic paraplegia type 77' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Autosomal recessive spastic paraplegia type 77' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 77' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_356978 Label(s): D,L-2-hydroxyglutaric aciduria + 'D,L-2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '2-hydroxyglutaric aciduria' Class: http://www.orpha.net/ORDO/Orphanet_352563 Label(s): Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency + 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_238523 Label(s): Atypical hypotonia-cystinuria syndrome + 'Atypical hypotonia-cystinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypotonia-cystinuria type 1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_613274 Label(s): Pontocerebellar hypoplasia type 14 + 'Pontocerebellar hypoplasia type 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pontocerebellar hypoplasia type 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_95448 Label(s): Congenital aortic valve atresia + 'Congenital aortic valve atresia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital aortic valve stenosis' Class: http://www.orpha.net/ORDO/Orphanet_95434 Label(s): Autosomal recessive cerebellar ataxia-movement disorder syndrome + 'Autosomal recessive cerebellar ataxia-movement disorder syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive syndromic cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_404511 Label(s): Clear cell papillary renal cell carcinoma + 'Clear cell papillary renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Clear cell renal carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_225154 Label(s): Familial infantile bilateral striatal necrosis + 'Familial infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infantile bilateral striatal necrosis' Class: http://www.orpha.net/ORDO/Orphanet_101011 Label(s): Autosomal dominant spastic paraplegia type 31 + 'Autosomal dominant spastic paraplegia type 31' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal dominant spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_101010 Label(s): Autosomal spastic paraplegia type 30 + 'Autosomal spastic paraplegia type 30' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal dominant spastic paraplegia' + 'Autosomal spastic paraplegia type 30' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal recessive spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_356961 Label(s): SLC35A2-CDG + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2760 Label(s): OSLAM syndrome + 'OSLAM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bone tumor' + 'OSLAM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic bone tumor' + 'OSLAM syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_1267 Label(s): Botulism + 'Botulism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Botulism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired neuromuscular junction disease' + 'Botulism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder of the pupil' + 'Botulism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_101009 Label(s): Autosomal dominant spastic paraplegia type 29 + 'Autosomal dominant spastic paraplegia type 29' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_101007 Label(s): Autosomal recessive spastic paraplegia type 27 + 'Autosomal recessive spastic paraplegia type 27' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal recessive spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_101006 Label(s): Autosomal recessive spastic paraplegia type 26 + 'Autosomal recessive spastic paraplegia type 26' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Autosomal recessive spastic paraplegia type 26' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_101005 Label(s): Autosomal recessive spastic paraplegia type 25 + 'Autosomal recessive spastic paraplegia type 25' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_101004 Label(s): Autosomal recessive spastic paraplegia type 24 + 'Autosomal recessive spastic paraplegia type 24' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_101003 Label(s): Autosomal recessive spastic paraplegia type 23 + 'Autosomal recessive spastic paraplegia type 23' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_101000 Label(s): Autosomal recessive spastic paraplegia type 20 + 'Autosomal recessive spastic paraplegia type 20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_91347 Label(s): TSH-secreting pituitary adenoma + 'TSH-secreting pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_91348 Label(s): Functioning gonadotropic adenoma + 'Functioning gonadotropic adenoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functioning pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_83629 Label(s): Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome + 'Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurodegenerative disease' + 'Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_410055 Label(s): Ecuador - 'Ecuador' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_620102 Label(s): Non-syndromic unicoronal craniosynostosis + 'Non-syndromic unicoronal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic unisutural craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_2718 Label(s): Oculotrichodysplasia + 'Oculotrichodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Oculotrichodysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_617902 Label(s): ubiquitin specific peptidase 48 + 'ubiquitin specific peptidase 48' SubClassOf 'disease-causing somatic mutation(s) in' some 'Cushing disease' Class: http://www.orpha.net/ORDO/Orphanet_576370 Label(s): Variant Creutzfeldt-Jakob disease + 'Variant Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired Creutzfeldt-Jakob disease' Class: http://www.orpha.net/ORDO/Orphanet_93555 Label(s): Mixed cryoglobulinemia type III + 'Mixed cryoglobulinemia type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cryoglobulinemic vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_91351 Label(s): Pituitary dermoid and epidermoid cysts + 'Pituitary dermoid and epidermoid cysts' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Adrenal/paraganglial tumor' + 'Pituitary dermoid and epidermoid cysts' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency of tumoral origin' Class: http://www.orpha.net/ORDO/Orphanet_93558 Label(s): Light chain deposition disease + 'Light chain deposition disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-amyloid monoclonal immunoglobulin deposition disease' Class: http://www.orpha.net/ORDO/Orphanet_91354 Label(s): Pituitary deficiency due to empty sella turcica syndrome + 'Pituitary deficiency due to empty sella turcica syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pituitary hormone deficiency of meningeal origin' Class: http://www.orpha.net/ORDO/Orphanet_91359 Label(s): Chronic pneumonitis of infancy + 'Chronic pneumonitis of infancy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Interstitial lung disease specific to infancy' Class: http://www.orpha.net/ORDO/Orphanet_443291 Label(s): HIV-associated cancer + 'HIV-associated cancer' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare virus associated tumor' Class: http://www.orpha.net/ORDO/Orphanet_436141 Label(s): Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome + 'Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_617910 Label(s): Conjunctival malignant melanoma + 'Conjunctival malignant melanoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_93561 Label(s): ALys amyloidosis + 'ALys amyloidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary amyloidosis with primary renal involvement' Class: http://www.orpha.net/ORDO/Orphanet_99853 Label(s): Ovarioleukodystrophy + 'Ovarioleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_617916 Label(s): Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia + 'Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to adulthood' Class: http://www.orpha.net/ORDO/Orphanet_71516 Label(s): OBSOLETE: Mixed dystonia + 'OBSOLETE: Mixed dystonia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare dystonia' Class: http://www.orpha.net/ORDO/Orphanet_71519 Label(s): Psychogenic movement disorders + 'Psychogenic movement disorders' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_225123 Label(s): Hemochromatosis type 3 + 'Hemochromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_99858 Label(s): Idiopathic syringomyelia + 'Idiopathic syringomyelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_99646 Label(s): Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria + 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_308473 Label(s): Erythrocyte galactose epimerase deficiency + 'Erythrocyte galactose epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Galactose epimerase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_53715 Label(s): Familial tumoral calcinosis + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Tumor of endocrine glands' + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parathyroid disease and phosphocalcic metabolism anomaly' + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic inflammatory or rheumatoid-like osteoarthropathy' + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare skin tumor or hamartoma' + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_410065 Label(s): Finland - 'Finland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410066 Label(s): France - 'France' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_96160 Label(s): Non-distal monosomy 12q + 'Non-distal monosomy 12q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 12' Class: http://www.orpha.net/ORDO/Orphanet_44890 Label(s): Gastrointestinal stromal tumor + 'Gastrointestinal stromal tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic digestive tract tumor' + 'Gastrointestinal stromal tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesenchymal tumor of small intestine' Class: http://www.orpha.net/ORDO/Orphanet_402075 Label(s): Familial bicuspid aortic valve + 'Familial bicuspid aortic valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac anomaly' + 'Familial bicuspid aortic valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Familial bicuspid aortic valve' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_93578 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly + 'OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_83312 Label(s): Rickettsialpox + 'Rickettsialpox' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spotted fever rickettsiosis' Class: http://www.orpha.net/ORDO/Orphanet_95458 Label(s): OBSOLETE: Tricuspid valve prolapse + 'OBSOLETE: Tricuspid valve prolapse' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_466791 Label(s): Macrocephaly-intellectual disability-left ventricular non compaction syndrome + 'Macrocephaly-intellectual disability-left ventricular non compaction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly-intellectual disability-left ventricular non compaction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_95459 Label(s): Congenital tricuspid stenosis + 'Congenital tricuspid stenosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_611207 Label(s): Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome + 'Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' + 'Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' + 'Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_83317 Label(s): Scrub typhus + 'Scrub typhus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_99860 Label(s): Precursor B-cell acute lymphoblastic leukemia + 'Precursor B-cell acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_93580 Label(s): OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly + 'OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_93583 Label(s): Congenital thrombotic thrombocytopenic purpura + 'Congenital thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic coagulation disorder' + 'Congenital thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic thrombotic microangiopathy' + 'Congenital thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thrombotic thrombocytopenic purpura' Class: http://www.orpha.net/ORDO/Orphanet_99864 Label(s): OBSOLETE: Classic seminoma + 'OBSOLETE: Classic seminoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Testicular seminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_98762 Label(s): Spinocerebellar ataxia type 12 + 'Spinocerebellar ataxia type 12' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_324977 Label(s): Proteasome-associated autoinflammatory syndrome + 'Proteasome-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Proteasome-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'Proteasome-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy of childhood' + 'Proteasome-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 1 interferonopathy' + 'Proteasome-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_99866 Label(s): OBSOLETE: Metastatic spermatocytic seminoma + 'OBSOLETE: Metastatic spermatocytic seminoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Spermatocytic seminoma' Class: http://www.orpha.net/ORDO/Orphanet_97552 Label(s): Steroid-sensitive nephrotic syndrome without renal biopsy + 'Steroid-sensitive nephrotic syndrome without renal biopsy' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_324972 Label(s): MAGIC syndrome + 'MAGIC syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352504 Label(s): OBSOLETE: Levodopa-unresponsive juvenile parkinsonism + 'OBSOLETE: Levodopa-unresponsive juvenile parkinsonism' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Atypical juvenile parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_2044 Label(s): Floating-Harbor syndrome + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2048 Label(s): Foix-Chavany-Marie syndrome + 'Foix-Chavany-Marie syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_440354 Label(s): Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome + 'Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 11 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_410079 Label(s): Guadeloupe - 'Guadeloupe' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_180145 Label(s): Uterine cervical aplasia and agenesis + 'Uterine cervical aplasia and agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic uterovaginal malformation' + 'Uterine cervical aplasia and agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an implantation defect' Class: http://www.orpha.net/ORDO/Orphanet_269229 Label(s): Pontine tegmental cap dysplasia + 'Pontine tegmental cap dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Posterior fossa malformation' Class: http://www.orpha.net/ORDO/Orphanet_324964 Label(s): Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis + 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome of childhood' + 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_42665 Label(s): Tietz syndrome + 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hypopigmentation of the skin' + 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypopigmentation of the skin' + 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_269221 Label(s): Isolated bilateral hemispheric cerebellar hypoplasia + 'Isolated bilateral hemispheric cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the cerebellar hemispheres' Class: http://www.orpha.net/ORDO/Orphanet_91 Label(s): Aromatase deficiency + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-acquired premature ovarian failure' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired premature ovarian failure' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '46,XX disorder of sex development induced by fetoplacental androgens excess' Class: http://www.orpha.net/ORDO/Orphanet_99873 Label(s): OBSOLETE: Hand-Sch³ller-Christian disease + 'OBSOLETE: Hand-Sch³ller-Christian disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_269218 Label(s): Isolated unilateral hemispheric cerebellar hypoplasia + 'Isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the cerebellar hemispheres' Class: http://www.orpha.net/ORDO/Orphanet_86789 Label(s): Patella aplasia/hypoplasia + 'Patella aplasia/hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic limb malformation' + 'Patella aplasia/hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Patellar dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_269212 Label(s): Isolated Dandy-Walker malformation with hydrocephalus + 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated Dandy-Walker malformation' Class: http://www.orpha.net/ORDO/Orphanet_99878 Label(s): OBSOLETE: Primary parathyroid hyperplasia + 'OBSOLETE: Primary parathyroid hyperplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Familial isolated hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_2787 Label(s): Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome + 'Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_410081 Label(s): Guatemala - 'Guatemala' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_139406 Label(s): Encephalopathy due to prosaposin deficiency + 'Encephalopathy due to prosaposin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis with epilepsy' + 'Encephalopathy due to prosaposin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis' + 'Encephalopathy due to prosaposin deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_319480 Label(s): Acute myeloid leukemia with CEBPA somatic mutations + 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic tumor of hematopoietic and lymphoid tissues' Class: http://www.orpha.net/ORDO/Orphanet_69126 Label(s): Pyogenic arthritis-pyoderma gangrenosum-acne syndrome + 'Pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome' + 'Pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic autoinflammatory syndrome with skin involvement' + 'Pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with skin involvement' + 'Pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyogenic autoinflammatory syndrome of childhood' + 'Pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoinflammatory syndrome with immune deficiency' Class: http://www.orpha.net/ORDO/Orphanet_69125 Label(s): Anonychia with flexural pigmentation + 'Anonychia with flexural pigmentation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Anonychia with flexural pigmentation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_431166 Label(s): Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection + 'Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary immunodeficiency with predisposition to severe viral infection' Class: http://www.orpha.net/ORDO/Orphanet_269209 Label(s): Isolated partial cerebellar vermis agenesis + 'Isolated partial cerebellar vermis agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated cerebellar vermis agenesis' Class: http://www.orpha.net/ORDO/Orphanet_269206 Label(s): Isolated total cerebellar vermis agenesis + 'Isolated total cerebellar vermis agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated cerebellar vermis agenesis' Class: http://www.orpha.net/ORDO/Orphanet_85297 Label(s): X-linked spinocerebellar ataxia type 3 + 'X-linked spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_269203 Label(s): Isolated cerebellar vermis agenesis + 'Isolated cerebellar vermis agenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the cerebellar vermis' Class: http://www.orpha.net/ORDO/Orphanet_269200 Label(s): OBSOLETE: Retrocerebellar cyst + 'OBSOLETE: Retrocerebellar cyst' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Arachnoid cyst' Class: http://www.orpha.net/ORDO/Orphanet_42642 Label(s): PFAPA syndrome + 'PFAPA syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unexplained periodic fever syndrome of childhood' + 'PFAPA syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unexplained periodic fever syndrome' Class: http://www.orpha.net/ORDO/Orphanet_71493 Label(s): Familial thrombocytosis + 'Familial thrombocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to a constitutional platelet anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2058 Label(s): Fryns-Smeets-Thiry syndrome + 'Fryns-Smeets-Thiry syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fryns-Smeets-Thiry syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_210548 Label(s): Macrocephaly-intellectual disability-autism syndrome + 'Macrocephaly-intellectual disability-autism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly-intellectual disability-autism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Macrocephaly-intellectual disability-autism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly-intellectual disability-autism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + 'Macrocephaly-intellectual disability-autism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_97569 Label(s): OBSOLETE: Unclassified glomerulonephritis + 'OBSOLETE: Unclassified glomerulonephritis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_280234 Label(s): Null syndrome + 'Null syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pelizaeus-Merzbacher disease' Class: http://www.orpha.net/ORDO/Orphanet_79099 Label(s): Interstitial granulomatous dermatitis with arthritis + 'Interstitial granulomatous dermatitis with arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' + 'Interstitial granulomatous dermatitis with arthritis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_79098 Label(s): Sympathetic ophthalmia + 'Sympathetic ophthalmia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-infectious anterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_79095 Label(s): Congenital bile acid synthesis defect type 4 + 'Congenital bile acid synthesis defect type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital bile acid synthesis defect' + 'Congenital bile acid synthesis defect type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Congenital bile acid synthesis defect type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' Class: http://www.orpha.net/ORDO/Orphanet_79093 Label(s): Foix-Alajouanine syndrome + 'Foix-Alajouanine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare arteriovenous malformation' + 'Foix-Alajouanine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_604680 Label(s): Symptomatic form of X-linked centronuclear myopathy in female carriers + 'Symptomatic form of X-linked centronuclear myopathy in female carriers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Centronuclear myopathy' + 'Symptomatic form of X-linked centronuclear myopathy in female carriers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of myotubularin' Class: http://www.orpha.net/ORDO/Orphanet_319465 Label(s): Inherited acute myeloid leukemia + 'Inherited acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute myeloid leukemia' + 'Inherited acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic tumor of hematopoietic and lymphoid tissues' + 'Inherited acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited hematologic cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319462 Label(s): Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations + 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2737 Label(s): Onchocerciasis + 'Onchocerciasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filariasis' Class: http://www.orpha.net/ORDO/Orphanet_280229 Label(s): Pelizaeus-Merzbacher disease in female carriers + 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pelizaeus-Merzbacher disease' Class: http://www.orpha.net/ORDO/Orphanet_410097 Label(s): Ireland - 'Ireland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_280224 Label(s): Pelizaeus-Merzbacher disease, transitional form + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pelizaeus-Merzbacher disease' Class: http://www.orpha.net/ORDO/Orphanet_79087 Label(s): Acquired partial lipodystrophy + 'Acquired partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired lipodystrophy' + 'Acquired partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79086 Label(s): Acquired generalized lipodystrophy + 'Acquired generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired lipodystrophy' + 'Acquired generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79083 Label(s): PPARG-related familial partial lipodystrophy + 'PPARG-related familial partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_254898 Label(s): Deafness-encephaloneuropathy-obesity-valvulopathy syndrome + 'Deafness-encephaloneuropathy-obesity-valvulopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Coenzyme Q10 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2492 Label(s): FATCO syndrome + 'FATCO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'FATCO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'FATCO syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_2491 Label(s): Müllerian duct anomalies-limb anomalies syndrome + 'Müllerian duct anomalies-limb anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic uterovaginal malformation' + 'Müllerian duct anomalies-limb anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Müllerian duct anomalies-limb anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Müllerian duct anomalies-limb anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_254892 Label(s): Autosomal dominant progressive external ophthalmoplegia + 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple mitochondrial DNA deletion syndrome' + 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive external ophthalmoplegia' + 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_169079 Label(s): Cernunnos-XLF deficiency + 'Cernunnos-XLF deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' + 'Cernunnos-XLF deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_280219 Label(s): Pelizaeus-Merzbacher disease, classic form + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pelizaeus-Merzbacher disease' Class: http://www.orpha.net/ORDO/Orphanet_88950 Label(s): UMOD-related autosomal dominant tubulointerstitial kidney disease + 'UMOD-related autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'UMOD-related autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant tubulointerstitial kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_360224 Label(s): G protein subunit alpha 11 + 'G protein subunit alpha 11' SubClassOf 'disease-causing somatic mutation(s) in' some 'Cutis marmorata telangiectatica congenita' Class: http://www.orpha.net/ORDO/Orphanet_2489 Label(s): Upper limb defect-eye and ear abnormalities syndrome + 'Upper limb defect-eye and ear abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Upper limb defect-eye and ear abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Upper limb defect-eye and ear abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Upper limb defect-eye and ear abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_2487 Label(s): Lower limb malformation-hypospadias syndrome + 'Lower limb malformation-hypospadias syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_98793 Label(s): Prader-Willi syndrome due to paternal 15q11q13 deletion + 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 15' + 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Prader-Willi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2485 Label(s): Melorheostosis + 'Melorheostosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_2484 Label(s): Melnick-Needles syndrome + 'Melnick-Needles syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'Melnick-Needles syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Otopalatodigital syndrome spectrum disorder' + 'Melnick-Needles syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Structural developmental eye defect' + 'Melnick-Needles syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Melnick-Needles syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Structural developmental eye defect of genetic origin' + 'Melnick-Needles syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2483 Label(s): Melkersson-Rosenthal syndrome + 'Melkersson-Rosenthal syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urticaria' Class: http://www.orpha.net/ORDO/Orphanet_254886 Label(s): Autosomal recessive progressive external ophthalmoplegia + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple mitochondrial DNA deletion syndrome' + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive external ophthalmoplegia' + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_254881 Label(s): Spinocerebellar ataxia with epilepsy + 'Spinocerebellar ataxia with epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ataxia neuropathy spectrum' Class: http://www.orpha.net/ORDO/Orphanet_88949 Label(s): MUC1-related autosomal dominant tubulointerstitial kidney disease + 'MUC1-related autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'MUC1-related autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant tubulointerstitial kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_157215 Label(s): Hereditary hypophosphatemic rickets with hypercalciuria + 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hypophosphatemic rickets' Class: http://www.orpha.net/ORDO/Orphanet_280205 Label(s): Laryngotracheoesophageal cleft type 0 + 'Laryngotracheoesophageal cleft type 0' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laryngotracheoesophageal cleft' Class: http://www.orpha.net/ORDO/Orphanet_95493 Label(s): OBSOLETE: Abnormal origin or aberrant course of coronary artery + 'OBSOLETE: Abnormal origin or aberrant course of coronary artery' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Anomalous aortic origin of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_2479 Label(s): Megalocornea-intellectual disability syndrome + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with corneal involvement as a major feature' + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with corneal involvement as a major feature' + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_280200 Label(s): Microform holoprosencephaly + 'Microform holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Midline cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_2476 Label(s): Dysraphism-cleft lip/palate-limb reduction defects syndrome + 'Dysraphism-cleft lip/palate-limb reduction defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2475 Label(s): White forelock with malformations + 'White forelock with malformations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'White forelock with malformations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' + 'White forelock with malformations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'White forelock with malformations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_95496 Label(s): Pituitary stalk interruption syndrome + 'Pituitary stalk interruption syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-acquired pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2473 Label(s): McKusick-Kaufman syndrome + 'McKusick-Kaufman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'McKusick-Kaufman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'McKusick-Kaufman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in Bardet-Biedl gene' + 'McKusick-Kaufman syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2471 Label(s): McDonough syndrome + 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_169090 Label(s): Combined immunodeficiency due to CRAC channel dysfunction + 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_276212 Label(s): Mucopolysaccharidosis type 6, rapidly progressing + 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mucopolysaccharidosis type 6' Class: http://www.orpha.net/ORDO/Orphanet_100996 Label(s): Autosomal recessive spastic paraplegia type 15 + 'Autosomal recessive spastic paraplegia type 15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 15' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100995 Label(s): Autosomal recessive spastic paraplegia type 14 + 'Autosomal recessive spastic paraplegia type 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal recessive spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_100994 Label(s): Autosomal dominant spastic paraplegia type 13 + 'Autosomal dominant spastic paraplegia type 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal dominant spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_88938 Label(s): Pseudohypoaldosteronism type 2A + 'Pseudohypoaldosteronism type 2A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudohypoaldosteronism type 2' Class: http://www.orpha.net/ORDO/Orphanet_100990 Label(s): OBSOLETE: Autosomal dominant spastic paraplegia type 9 + 'OBSOLETE: Autosomal dominant spastic paraplegia type 9' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_93297 Label(s): Hypochondrogenesis + 'Hypochondrogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Type 2 collagen-related bone disorder' + 'Hypochondrogenesis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Achondrogenesis' Class: http://www.orpha.net/ORDO/Orphanet_247198 Label(s): Progressive cerebello-cerebral atrophy + 'Progressive cerebello-cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Progressive cerebello-cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2466 Label(s): MASA syndrome + 'MASA syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked complex spastic paraplegia' + 'MASA syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'L1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2464 Label(s): Marfanoid syndrome, De Silva type + 'Marfanoid syndrome, De Silva type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2463 Label(s): Marfanoid habitus-autosomal recessive intellectual disability syndrome + 'Marfanoid habitus-autosomal recessive intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Marfanoid habitus-autosomal recessive intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2462 Label(s): Shprintzen-Goldberg syndrome + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Marfan syndrome and Marfan-related disorders' + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_2461 Label(s): Marden-Walker syndrome + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2460 Label(s): Van den Ende-Gupta syndrome + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome or malformation associated with head and neck malformations' + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_254864 Label(s): Mitochondrial myopathy with reversible cytochrome C oxidase deficiency + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA-related mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_100989 Label(s): Autosomal dominant spastic paraplegia type 8 + 'Autosomal dominant spastic paraplegia type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal dominant spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_100986 Label(s): Autosomal recessive spastic paraplegia type 5A + 'Autosomal recessive spastic paraplegia type 5A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal recessive spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_100984 Label(s): Autosomal dominant spastic paraplegia type 3 + 'Autosomal dominant spastic paraplegia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal dominant spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_88924 Label(s): Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis + 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 16' + 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' Class: http://www.orpha.net/ORDO/Orphanet_90081 Label(s): AIDS wasting syndrome + 'AIDS wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_90080 Label(s): Scarring in glaucoma filtration surgical procedures + 'Scarring in glaucoma filtration surgical procedures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder involving multiple structures of the eye' Class: http://www.orpha.net/ORDO/Orphanet_2459 Label(s): Mansonelliasis + 'Mansonelliasis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Filariasis' Class: http://www.orpha.net/ORDO/Orphanet_2458 Label(s): OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome + 'OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Primary bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2457 Label(s): Mandibuloacral dysplasia + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary osteolysis' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic lipodystrophy' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2456 Label(s): Familial supernumerary nipples + 'Familial supernumerary nipples' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Excess breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_2453 Label(s): Malpuech syndrome + 'Malpuech syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '3MC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254857 Label(s): Lethal infantile mitochondrial myopathy + 'Lethal infantile mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA-related mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_2451 Label(s): Mucocutaneous venous malformations + 'Mucocutaneous venous malformations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic venous malformation' + 'Mucocutaneous venous malformations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare venous malformation' Class: http://www.orpha.net/ORDO/Orphanet_254854 Label(s): Pure mitochondrial myopathy + 'Pure mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA-related mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_254851 Label(s): Mitochondrial DNA-related dystonia + 'Mitochondrial DNA-related dystonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_100978 Label(s): Cloverleaf skull-asphyxiating thoracic dysplasia syndrome + 'Cloverleaf skull-asphyxiating thoracic dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_100976 Label(s): Bathing suit ichthyosis + 'Bathing suit ichthyosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive congenital ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_100973 Label(s): FRAXE intellectual disability + 'FRAXE intellectual disability' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_88919 Label(s): Autosomal recessive Alport syndrome + 'Autosomal recessive Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alport syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90078 Label(s): Invasive infections due to vancomycin-resistant enterococci + 'Invasive infections due to vancomycin-resistant enterococci' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_90076 Label(s): Partial deep dermal and full thickness burns + 'Partial deep dermal and full thickness burns' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_90073 Label(s): Hepatitis B reinfection following liver transplantation + 'Hepatitis B reinfection following liver transplantation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for transplant or complication after transplantation' + 'Hepatitis B reinfection following liver transplantation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hepatic disease' Class: http://www.orpha.net/ORDO/Orphanet_98897 Label(s): Oculopharyngodistal myopathy + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal myopathy' + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progressive muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_90070 Label(s): OBSOLETE: Methotrexate poisoning + 'OBSOLETE: Methotrexate poisoning' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Methotrexate toxicity' Class: http://www.orpha.net/ORDO/Orphanet_98895 Label(s): Becker muscular dystrophy + 'Becker muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of dystrophin' + 'Becker muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Duchenne and Becker muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98893 Label(s): Congenital muscular dystrophy type 1B + 'Congenital muscular dystrophy type 1B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98892 Label(s): Periventricular nodular heterotopia + 'Periventricular nodular heterotopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nodular neuronal heterotopia' Class: http://www.orpha.net/ORDO/Orphanet_98890 Label(s): Early-onset X-linked optic atrophy + 'Early-onset X-linked optic atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Early-onset X-linked optic atrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2440 Label(s): Isolated split hand-split foot malformation + 'Isolated split hand-split foot malformation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' Class: http://www.orpha.net/ORDO/Orphanet_56965 Label(s): Progressive bulbar paralysis of childhood + 'Progressive bulbar paralysis of childhood' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Riboflavin transporter deficiency' Class: http://www.orpha.net/ORDO/Orphanet_90069 Label(s): Systemic monochloroacetate poisoning + 'Systemic monochloroacetate poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_90068 Label(s): Cocaine intoxication + 'Cocaine intoxication' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_90066 Label(s): Pneumonia caused by Pseudomonas aeruginosa infection + 'Pneumonia caused by Pseudomonas aeruginosa infection' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_90065 Label(s): Acquired aneurysmal subarachnoid hemorrhage + 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_90064 Label(s): Acute peripheral arterial occlusion + 'Acute peripheral arterial occlusion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-inflammatory vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_98889 Label(s): Bilateral perisylvian polymicrogyria + 'Bilateral perisylvian polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bilateral polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_90062 Label(s): Acute liver failure + 'Acute liver failure' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hepatic disease' Class: http://www.orpha.net/ORDO/Orphanet_90060 Label(s): Diffuse alveolar hemorrhage + 'Diffuse alveolar hemorrhage' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_2437 Label(s): Czeizel-Losonci syndrome + 'Czeizel-Losonci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic urogenital tract malformation' + 'Czeizel-Losonci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Czeizel-Losonci syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_247165 Label(s): Infantile mercury poisoning + 'Infantile mercury poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_79022 Label(s): Simpson-Golabi-Behmel syndrome type 2 + 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_2712 Label(s): Oculofaciocardiodental syndrome + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with glaucoma as a major feature' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oculofaciocardiodental syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2431 Label(s): Central bilateral macrogyria + 'Central bilateral macrogyria' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Bilateral perisylvian polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_2900 Label(s): Leri pleonosteosis + 'Leri pleonosteosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_2901 Label(s): Neuralgic amyotrophy + 'Neuralgic amyotrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2902 Label(s): Idiopathic chronic eosinophilic pneumonia + 'Idiopathic chronic eosinophilic pneumonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Idiopathic eosinophilic pneumonia' + 'Idiopathic chronic eosinophilic pneumonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare allergic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_276234 Label(s): Non-syndromic male infertility due to sperm motility disorder + 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Male infertility due to sperm motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_90059 Label(s): Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma + 'Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare deafness' Class: http://www.orpha.net/ORDO/Orphanet_90058 Label(s): Spinal cord injury + 'Spinal cord injury' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_2908 Label(s): Kindler epidermolysis bullosa + 'Kindler epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' + 'Kindler epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited epidermolysis bullosa' + 'Kindler epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_90056 Label(s): Moderate and severe traumatic brain injury + 'Moderate and severe traumatic brain injury' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_90055 Label(s): OBSOLETE: Rejection after corneal transplantation + 'OBSOLETE: Rejection after corneal transplantation' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Complication after organ transplantation' Class: http://www.orpha.net/ORDO/Orphanet_90053 Label(s): Complications after hematopoietic stem cell transplantation + 'Complications after hematopoietic stem cell transplantation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for transplant or complication after transplantation' Class: http://www.orpha.net/ORDO/Orphanet_90052 Label(s): Recurrent hepatitis C virus induced liver disease in liver transplant recipients + 'Recurrent hepatitis C virus induced liver disease in liver transplant recipients' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for transplant or complication after transplantation' + 'Recurrent hepatitis C virus induced liver disease in liver transplant recipients' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hepatic disease' Class: http://www.orpha.net/ORDO/Orphanet_90051 Label(s): Sepsis in premature infants + 'Sepsis in premature infants' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_90050 Label(s): Retinopathy of prematurity + 'Retinopathy of prematurity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_2429 Label(s): Macrocephaly-spastic paraplegia-dysmorphism syndrome + 'Macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pure or complex autosomal recessive spastic paraplegia' + 'Macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98873 Label(s): Congenital dyserythropoietic anemia type II + 'Congenital dyserythropoietic anemia type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of multiple glycosylation' + 'Congenital dyserythropoietic anemia type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_98872 Label(s): Primary acquired pure red cell aplasia + 'Primary acquired pure red cell aplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary acquired red cell aplasia' Class: http://www.orpha.net/ORDO/Orphanet_538574 Label(s): Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome + 'Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' + 'Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98870 Label(s): Congenital dyserythropoietic anemia type III + 'Congenital dyserythropoietic anemia type III' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_2420 Label(s): Primary pulmonary lymphoma + 'Primary pulmonary lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bronchopulmonary tumor' + 'Primary pulmonary lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary organ-specific lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_180106 Label(s): Bicervical bicornuate uterus and blind hemivagina + 'Bicervical bicornuate uterus and blind hemivagina' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Didelphys uterus' Class: http://www.orpha.net/ORDO/Orphanet_498693 Label(s): MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome + 'MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_2912 Label(s): Poliomyelitis + 'Poliomyelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired motor neuron disease' + 'Poliomyelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infectious disease of the nervous system' Class: http://www.orpha.net/ORDO/Orphanet_52530 Label(s): Pseudo-von Willebrand disease + 'Pseudo-von Willebrand disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to a qualitative platelet defect' Class: http://www.orpha.net/ORDO/Orphanet_2916 Label(s): Postaxial polydactyly-dental and vertebral anomalies syndrome + 'Postaxial polydactyly-dental and vertebral anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Postaxial polydactyly-dental and vertebral anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2917 Label(s): Polydactyly-myopia syndrome + 'Polydactyly-myopia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_2919 Label(s): Orofaciodigital syndrome type 5 + 'Orofaciodigital syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_90045 Label(s): Hereditary folate malabsorption + 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of folate metabolism and transport' + 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intestinal disease due to vitamin absorption anomaly' + 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional megaloblastic anemia due to folate metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_90044 Label(s): Familial pseudohyperkalemia + 'Familial pseudohyperkalemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_90042 Label(s): Primary familial polycythemia + 'Primary familial polycythemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic polycythemia' + 'Primary familial polycythemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_90041 Label(s): Gaisböck syndrome + 'Gaisböck syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Gaisböck syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired secondary polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_98866 Label(s): OBSOLETE: Spherocytic elliptocytosis + 'OBSOLETE: Spherocytic elliptocytosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98865 Label(s): Homozygous hereditary elliptocytosis + 'Homozygous hereditary elliptocytosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98864 Label(s): Common hereditary elliptocytosis + 'Common hereditary elliptocytosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98861 Label(s): Primary ciliary dyskinesia, Kartagener type + 'Primary ciliary dyskinesia, Kartagener type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_2414 Label(s): Congenital pulmonary lymphangiectasia + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic interstitial lung disease' + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_2412 Label(s): Dislocation of the hip-dysmorphism syndrome + 'Dislocation of the hip-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dislocation of the hip-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_353277 Label(s): Rubinstein-Taybi syndrome due to CREBBP mutations + 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rubinstein-Taybi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_370131 Label(s): White platelet syndrome + 'White platelet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha granule disease' Class: http://www.orpha.net/ORDO/Orphanet_276241 Label(s): Machado-Joseph disease type 2 + 'Machado-Joseph disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spinocerebellar ataxia type 3' Class: http://www.orpha.net/ORDO/Orphanet_85317 Label(s): X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome + 'X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2920 Label(s): Oliver syndrome + 'Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_276244 Label(s): Machado-Joseph disease type 3 + 'Machado-Joseph disease type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spinocerebellar ataxia type 3' Class: http://www.orpha.net/ORDO/Orphanet_90039 Label(s): Hemoglobin D disease + 'Hemoglobin D disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hemoglobinopathy' + 'Hemoglobin D disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_90038 Label(s): Shiga toxin-associated hemolytic uremic syndrome + 'Shiga toxin-associated hemolytic uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Infection-related hemolytic uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90037 Label(s): Drug-induced autoimmune hemolytic anemia + 'Drug-induced autoimmune hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune hemolytic anemia' Class: http://www.orpha.net/ORDO/Orphanet_90036 Label(s): Mixed-type autoimmune hemolytic anemia + 'Mixed-type autoimmune hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune hemolytic anemia' Class: http://www.orpha.net/ORDO/Orphanet_90035 Label(s): Paroxysmal cold hemoglobinuria + 'Paroxysmal cold hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune hemolytic anemia, cold type' Class: http://www.orpha.net/ORDO/Orphanet_90033 Label(s): Autoimmune hemolytic anemia, warm type + 'Autoimmune hemolytic anemia, warm type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autoimmune hemolytic anemia' Class: http://www.orpha.net/ORDO/Orphanet_276249 Label(s): OBSOLETE: Xeroderma pigmentosum complementation group A + 'OBSOLETE: Xeroderma pigmentosum complementation group A' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Xeroderma pigmentosum' Class: http://www.orpha.net/ORDO/Orphanet_90031 Label(s): Non-spherocytic hemolytic anemia due to hexokinase deficiency + 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to a disorder of glycolytic enzymes' Class: http://www.orpha.net/ORDO/Orphanet_90030 Label(s): Hemolytic anemia due to glutathione reductase deficiency + 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' Class: http://www.orpha.net/ORDO/Orphanet_98855 Label(s): Autosomal recessive Emery-Dreifuss muscular dystrophy + 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with striated muscle involvement' + 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2408 Label(s): Lowe-Kohn-Cohen syndrome + 'Lowe-Kohn-Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Lowe-Kohn-Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_98853 Label(s): Autosomal dominant Emery-Dreifuss muscular dystrophy + 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laminopathy with striated muscle involvement' + 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_370127 Label(s): Medich giant platelet syndrome + 'Medich giant platelet syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Alpha granule disease' Class: http://www.orpha.net/ORDO/Orphanet_98851 Label(s): Mast cell leukemia + 'Mast cell leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98850 Label(s): Aggressive systemic mastocytosis + 'Aggressive systemic mastocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_331235 Label(s): Selective IgM deficiency + 'Selective IgM deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_2400 Label(s): Peripheral motor neuropathy-dysautonomia syndrome + 'Peripheral motor neuropathy-dysautonomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic primary orthostatic hypotension' + 'Peripheral motor neuropathy-dysautonomia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary orthostatic hypotension' Class: http://www.orpha.net/ORDO/Orphanet_217399 Label(s): Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation + 'Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_217396 Label(s): Progressive polyneuropathy with bilateral striatal necrosis + 'Progressive polyneuropathy with bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of thiamine metabolism and transport' + 'Progressive polyneuropathy with bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_47044 Label(s): Hereditary papillary renal cell carcinoma + 'Hereditary papillary renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217390 Label(s): Combined immunodeficiency due to DOCK8 deficiency + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_139396 Label(s): X-linked cerebral adrenoleukodystrophy + 'X-linked cerebral adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked adrenoleukodystrophy' + 'X-linked cerebral adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90026 Label(s): Primary erythromelalgia + 'Primary erythromelalgia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_90024 Label(s): Deafness with labyrinthine aplasia, microtia, and microdontia + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_329341 Label(s): OBSOLETE: Limbic encephalitis with DPP6 antibodies + 'OBSOLETE: Limbic encephalitis with DPP6 antibodies' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_90022 Label(s): OBSOLETE: Cardiomyopathy-renal anomalies syndrome + 'OBSOLETE: Cardiomyopathy-renal anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_90021 Label(s): Radiation myelitis + 'Radiation myelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Medullar disease' + 'Radiation myelitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Radiation-induced disorder' Class: http://www.orpha.net/ORDO/Orphanet_90020 Label(s): Parkinson-dementia complex of Guam + 'Parkinson-dementia complex of Guam' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_98845 Label(s): Classic Hodgkin lymphoma, lymphocyte-rich type + 'Classic Hodgkin lymphoma, lymphocyte-rich type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_98844 Label(s): Classic Hodgkin lymphoma, mixed cellularity type + 'Classic Hodgkin lymphoma, mixed cellularity type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_98843 Label(s): Classic Hodgkin lymphoma, nodular sclerosis type + 'Classic Hodgkin lymphoma, nodular sclerosis type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_98842 Label(s): Lymphomatoid papulosis + 'Lymphomatoid papulosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_98841 Label(s): Anaplastic large cell lymphoma + 'Anaplastic large cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_370114 Label(s): Combined cervical dystonia + 'Combined cervical dystonia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Ataxia-telangiectasia variant' Class: http://www.orpha.net/ORDO/Orphanet_538958 Label(s): Combined immunodeficiency due to CD70 deficiency + 'Combined immunodeficiency due to CD70 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2095 Label(s): Gorlin-Chaudhry-Moss syndrome + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_52503 Label(s): X-linked creatine transporter deficiency + 'X-linked creatine transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'X-linked creatine transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked creatine transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked creatine transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Creatine deficiency syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2097 Label(s): Grant syndrome + 'Grant syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with decreased bone density' + 'Grant syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with pigmented sclera' Class: http://www.orpha.net/ORDO/Orphanet_2946 Label(s): Brachydactyly-long thumb syndrome + 'Brachydactyly-long thumb syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac rhythm disease' + 'Brachydactyly-long thumb syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heart-hand syndrome' + 'Brachydactyly-long thumb syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_329336 Label(s): Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some '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://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_98839 Label(s): Intravascular large B-cell lymphoma + 'Intravascular large B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_98838 Label(s): Primary mediastinal large B-cell lymphoma + 'Primary mediastinal large B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_98837 Label(s): Acute biphenotypic leukemia + 'Acute biphenotypic leukemia' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Mixed phenotype acute leukemia' Class: http://www.orpha.net/ORDO/Orphanet_98835 Label(s): Acute undifferentiated leukemia + 'Acute undifferentiated leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acute leukemia of ambiguous lineage' Class: http://www.orpha.net/ORDO/Orphanet_370109 Label(s): Ataxia-telangiectasia variant + 'Ataxia-telangiectasia variant' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Persistent combined dystonia' Class: http://www.orpha.net/ORDO/Orphanet_98833 Label(s): Acute myeloblastic leukemia without maturation + 'Acute myeloblastic leukemia without maturation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_98832 Label(s): Acute myeloid leukemia with minimal differentiation + 'Acute myeloid leukemia with minimal differentiation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_137926 Label(s): Primary laryngeal lymphangioma + 'Primary laryngeal lymphangioma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_370103 Label(s): Primary dystonia, DYT17 type + 'Primary dystonia, DYT17 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_217377 Label(s): Microduplication Xp11.22p11.23 syndrome + 'Microduplication Xp11.22p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the short arm of chromosome X' + 'Microduplication Xp11.22p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microduplication Xp11.22p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microduplication Xp11.22p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_353253 Label(s): Burning mouth syndrome + 'Burning mouth syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare headache' Class: http://www.orpha.net/ORDO/Orphanet_2724 Label(s): Odontomatosis-aortae esophagus stenosis syndrome + 'Odontomatosis-aortae esophagus stenosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Odontomatosis-aortae esophagus stenosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_217371 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_329329 Label(s): Autosomal recessive frontotemporal pachygyria + 'Autosomal recessive frontotemporal pachygyria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' Class: http://www.orpha.net/ORDO/Orphanet_2956 Label(s): Acrodysplasia scoliosis + 'Acrodysplasia scoliosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_329324 Label(s): Inverse Klippel-Trénaunay syndrome + 'Inverse Klippel-Trénaunay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital vascular bone syndrome' + 'Inverse Klippel-Trénaunay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Vascular tumor with associated anomalies' Class: http://www.orpha.net/ORDO/Orphanet_90003 Label(s): Inflammatory pseudotumor of the liver + 'Inflammatory pseudotumor of the liver' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' Class: http://www.orpha.net/ORDO/Orphanet_90002 Label(s): Undifferentiated connective tissue syndrome + 'Undifferentiated connective tissue syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_90001 Label(s): X-linked cone dysfunction syndrome with myopia + 'X-linked cone dysfunction syndrome with myopia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated stationary inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_90000 Label(s): Erythema elevatum diutinum + 'Erythema elevatum diutinum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other acquired skin disease' + 'Erythema elevatum diutinum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immune complex mediated vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_98825 Label(s): Unclassified myelodysplastic/myeloproliferative disease + 'Unclassified myelodysplastic/myeloproliferative disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelodysplastic/myeloproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_98824 Label(s): Atypical chronic myeloid leukemia + 'Atypical chronic myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelodysplastic/myeloproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_98823 Label(s): Chronic myelomonocytic leukemia + 'Chronic myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Myelodysplastic/myeloproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_98820 Label(s): Familial focal epilepsy with variable foci + 'Familial focal epilepsy with variable foci' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_538934 Label(s): X-linked lymphoproliferative disease due to XIAP deficiency + 'X-linked lymphoproliferative disease due to XIAP deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare inflammatory bowel disease' + 'X-linked lymphoproliferative disease due to XIAP deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked lymphoproliferative disease' + 'X-linked lymphoproliferative disease due to XIAP deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_329319 Label(s): Thrombocythemia with distal limb defects + 'Thrombocythemia with distal limb defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Thrombocythemia with distal limb defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare thrombotic disorder due to a constitutional platelet anomaly' + 'Thrombocythemia with distal limb defects' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_264750 Label(s): OBSOLETE: Langerhans cell histiocytosis specific to adulthood + 'OBSOLETE: Langerhans cell histiocytosis specific to adulthood' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_2968 Label(s): Leukocyte adhesion deficiency + 'Leukocyte adhesion deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' + 'Leukocyte adhesion deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'Leukocyte adhesion deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Functional neutrophil defect' Class: http://www.orpha.net/ORDO/Orphanet_329314 Label(s): Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple mitochondrial DNA deletion syndrome' + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98819 Label(s): Familial temporal lobe epilepsy + 'Familial temporal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_98818 Label(s): Landau-Kleffner syndrome + 'Landau-Kleffner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98816 Label(s): Benign childhood occipital epilepsy, Gastaut type + 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign occipital epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_98815 Label(s): Benign childhood occipital epilepsy, Panayiotopoulos type + 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Benign occipital epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_139552 Label(s): Distal hereditary motor neuropathy, Jerash type + 'Distal hereditary motor neuropathy, Jerash type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98813 Label(s): Hypohidrotic ectodermal dysplasia with immunodeficiency + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with odontological manifestation' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital alacrima' Class: http://www.orpha.net/ORDO/Orphanet_466695 Label(s): Supratip dysplasia + 'Supratip dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98811 Label(s): Paroxysmal exertion-induced dyskinesia + 'Paroxysmal exertion-induced dyskinesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Paroxysmal exertion-induced dyskinesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paroxysmal dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_98810 Label(s): Paroxysmal non-kinesigenic dyskinesia + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paroxysmal dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_48162 Label(s): Lewis-Sumner syndrome + 'Lewis-Sumner syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic inflammatory demyelinating polyneuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98069 Label(s): OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy + 'OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autosomal dominant cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_2976 Label(s): Pseudoleprechaunism syndrome, Patterson type + 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with Cushing syndrome as a major feature' + 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic adrenal disease' Class: http://www.orpha.net/ORDO/Orphanet_309324 Label(s): Free sialic acid storage disease, infantile form + 'Free sialic acid storage disease, infantile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Free sialic acid storage disease' + 'Free sialic acid storage disease, infantile form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Lysosomal storage disease with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_98809 Label(s): Paroxysmal kinesigenic dyskinesia + 'Paroxysmal kinesigenic dyskinesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Paroxysmal dyskinesia' + 'Paroxysmal kinesigenic dyskinesia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_98808 Label(s): Autosomal dominant dopa-responsive dystonia + 'Autosomal dominant dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dopa-responsive dystonia' Class: http://www.orpha.net/ORDO/Orphanet_98807 Label(s): Primary dystonia, DYT13 type + 'Primary dystonia, DYT13 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_98806 Label(s): Primary dystonia, DYT6 type + 'Primary dystonia, DYT6 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Generalized isolated dystonia' Class: http://www.orpha.net/ORDO/Orphanet_466688 Label(s): Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome + 'Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with a cerebellar malformation as a major feature' + 'Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_140450 Label(s): OBSOLETE: Hereditary motor and sensory neuropathy + 'OBSOLETE: Hereditary motor and sensory neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_466682 Label(s): Euthyroid Graves orbitopathy + 'Euthyroid Graves orbitopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Structural developmental eye defect' Class: http://www.orpha.net/ORDO/Orphanet_422551 Label(s): collagen type XXV alpha 1 chain + 'collagen type XXV alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Neurogenic arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_217346 Label(s): 19q13.11 microdeletion syndrome + '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 19' + '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2980 Label(s): Acrootoocular syndrome + 'Acrootoocular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Acrootoocular syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pseudopapilledema' Class: http://www.orpha.net/ORDO/Orphanet_544488 Label(s): Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome + 'Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of ornithine metabolism' + 'Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2983 Label(s): Disorder of sex development-intellectual disability syndrome + 'Disorder of sex development-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'Disorder of sex development-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Disorder of sex development-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Disorder of sex development-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' Class: http://www.orpha.net/ORDO/Orphanet_217340 Label(s): 17q21.31 microduplication syndrome + '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 17' + '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2985 Label(s): Pseudoprogeria syndrome + 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Progeroid syndrome' + 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_59181 Label(s): Sorsby pseudoinflammatory fundus dystrophy + 'Sorsby pseudoinflammatory fundus dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated chorioretinal dystrophy' + 'Sorsby pseudoinflammatory fundus dystrophy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_572013 Label(s): Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome + 'Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic lissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_139536 Label(s): Distal hereditary motor neuropathy type 5 + 'Distal hereditary motor neuropathy type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_466677 Label(s): Scorpion envenomation + 'Scorpion envenomation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_65743 Label(s): Autosomal dominant multiple pterygium syndrome + 'Autosomal dominant multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple pterygium syndrome' + 'Autosomal dominant multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_140462 Label(s): OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy + 'OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_466670 Label(s): Cyanide poisoning + 'Cyanide poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_565624 Label(s): Combined oxidative phosphorylation defect type 39 + 'Combined oxidative phosphorylation defect type 39' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 39' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Combined oxidative phosphorylation defect type 39' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_217335 Label(s): RIN2 syndrome + 'RIN2 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'RIN2 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'RIN2 syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cutis laxa' Class: http://www.orpha.net/ORDO/Orphanet_264724 Label(s): OBSOLETE: Langerhans cell histiocytosis specific to childhood + 'OBSOLETE: Langerhans cell histiocytosis specific to childhood' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_300605 Label(s): Juvenile amyotrophic lateral sclerosis + 'Juvenile amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_217330 Label(s): REN-related autosomal dominant tubulointerstitial kidney disease + 'REN-related autosomal dominant tubulointerstitial kidney disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant tubulointerstitial kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_2997 Label(s): Ptosis-vocal cord paralysis syndrome + 'Ptosis-vocal cord paralysis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' Class: http://www.orpha.net/ORDO/Orphanet_2998 Label(s): Carnevale syndrome + 'Carnevale syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some '3MC syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319276 Label(s): Clear cell renal carcinoma + 'Clear cell renal carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_314993 Label(s): Cataract-congenital heart disease-neural tube defect syndrome + 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Other syndrome with a central nervous system malformation as a major feature' + 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_178345 Label(s): Aromatase excess syndrome + 'Aromatase excess syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare peripheral precocious puberty' + 'Aromatase excess syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Precocious puberty in female' + 'Aromatase excess syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic precocious puberty in female' Class: http://www.orpha.net/ORDO/Orphanet_260305 Label(s): Autosomal recessive sideroblastic anemia + 'Autosomal recessive sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_464458 Label(s): Paracetamol poisoning + 'Paracetamol poisoning' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_466806 Label(s): Autosomal dominant thrombocytopenia with platelet secretion defect + 'Autosomal dominant thrombocytopenia with platelet secretion defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_464453 Label(s): Acquired methemoglobinemia + 'Acquired methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_206546 Label(s): 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 http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of dystrophin' + 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Duchenne and Becker muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_565858 Label(s): Craniosynostosis-microretrognathia-severe intellectual disability syndrome + 'Craniosynostosis-microretrognathia-severe intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Craniosynostosis-microretrognathia-severe intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Monogenic disease with epilepsy' + 'Craniosynostosis-microretrognathia-severe intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic craniosynostosis' + 'Craniosynostosis-microretrognathia-severe intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_449266 Label(s): Pleural empyema + 'Pleural empyema' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_139518 Label(s): Distal hereditary motor neuropathy type 1 + 'Distal hereditary motor neuropathy type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_98580 Label(s): OBSOLETE: Palpebral tumor + 'OBSOLETE: Palpebral tumor' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_139515 Label(s): Charcot-Marie-Tooth disease type 4J + 'Charcot-Marie-Tooth disease type 4J' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Charcot-Marie-Tooth disease type 4' Class: http://www.orpha.net/ORDO/Orphanet_139512 Label(s): Neuropathy with hearing impairment + 'Neuropathy with hearing impairment' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Neuropathy with hearing impairment' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_422526 Label(s): Hereditary clear cell renal cell carcinoma + 'Hereditary clear cell renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited renal cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_466650 Label(s): Exercise-induced malignant hyperthermia + 'Exercise-induced malignant hyperthermia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with malignant hyperthermia' Class: http://www.orpha.net/ORDO/Orphanet_314041 Label(s): Marfanoid habitus-inguinal hernia-advanced bone age syndrome + 'Marfanoid habitus-inguinal hernia-advanced bone age syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with connective tissue involvement' Class: http://www.orpha.net/ORDO/Orphanet_352490 Label(s): Autism spectrum disorder due to AUTS2 deficiency + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with autism' + 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_217315 Label(s): Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome + 'Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Primary non-essential cutis verticis gyrata' Class: http://www.orpha.net/ORDO/Orphanet_464443 Label(s): COG6-CGD + 'COG6-CGD' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'COG6-CGD' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Defect in conserved oligomeric Golgi complex' Class: http://www.orpha.net/ORDO/Orphanet_98620 Label(s): OBSOLETE: Syndromic myopia + 'OBSOLETE: Syndromic myopia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare refraction anomaly' Class: http://www.orpha.net/ORDO/Orphanet_464440 Label(s): Primary dystonia, DYT27 type + 'Primary dystonia, DYT27 type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_314978 Label(s): X-linked non progressive cerebellar ataxia + 'X-linked non progressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'X-linked cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_139507 Label(s): African iron overload + 'African iron overload' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare metabolic liver disease' + 'African iron overload' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of iron metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_324989 Label(s): OBSOLETE: Juvenile-onset SAPHO syndrome + 'OBSOLETE: Juvenile-onset SAPHO syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'SAPHO syndrome' Class: http://www.orpha.net/ORDO/Orphanet_422519 Label(s): OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency + 'OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' Class: http://www.orpha.net/ORDO/Orphanet_93604 Label(s): OBSOLETE: Antenatal Bartter syndrome + 'OBSOLETE: Antenatal Bartter syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Bartter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93605 Label(s): Bartter syndrome type 3 + 'Bartter syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Bartter syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Bartter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93606 Label(s): Nephrogenic syndrome of inappropriate antidiuresis + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare renal tubular disease' + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_93608 Label(s): Autosomal dominant distal renal tubular acidosis + 'Autosomal dominant distal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_352487 Label(s): Digital anomalies-intellectual disability-short stature syndrome + 'Digital anomalies-intellectual disability-short stature syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'MEND syndrome' Class: http://www.orpha.net/ORDO/Orphanet_481475 Label(s): OBSOLETE: Gastric neuroendocrine tumor type 2 + 'OBSOLETE: Gastric neuroendocrine tumor type 2' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Neuroendocrine tumor of stomach' Class: http://www.orpha.net/ORDO/Orphanet_352482 Label(s): OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement + 'OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement' SubClassOf http://www.orpha.net/ORDO/referred_to some 'ISPD-related limb-girdle muscular dystrophy R20' Class: http://www.orpha.net/ORDO/Orphanet_449280 Label(s): Scedosporiosis + 'Scedosporiosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_294969 Label(s): Amelia of lower limb + 'Amelia of lower limb' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Amelia' Class: http://www.orpha.net/ORDO/Orphanet_238606 Label(s): Primary orthostatic tremor + 'Primary orthostatic tremor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare tremor disorder' Class: http://www.orpha.net/ORDO/Orphanet_93610 Label(s): Distal renal tubular acidosis with anemia + 'Distal renal tubular acidosis with anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Distal renal tubular acidosis' + 'Distal renal tubular acidosis with anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93613 Label(s): Cystinuria type B + 'Cystinuria type B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Cystinuria' Class: http://www.orpha.net/ORDO/Orphanet_352479 Label(s): ISPD-related limb-girdle muscular dystrophy R20 + 'ISPD-related limb-girdle muscular dystrophy R20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive limb-girdle muscular dystrophy' + 'ISPD-related limb-girdle muscular dystrophy R20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of O-mannosylglycan synthesis' + 'ISPD-related limb-girdle muscular dystrophy R20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'ISPD-related limb-girdle muscular dystrophy R20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with neurological involvement' + 'ISPD-related limb-girdle muscular dystrophy R20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' Class: http://www.orpha.net/ORDO/Orphanet_352470 Label(s): DNA2-related mitochondrial DNA deletion syndrome + 'DNA2-related mitochondrial DNA deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple mitochondrial DNA deletion syndrome' + 'DNA2-related mitochondrial DNA deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_1682 Label(s): Arterial dissection-lentiginosis syndrome + 'Arterial dissection-lentiginosis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-inflammatory vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_59135 Label(s): Laing early-onset distal myopathy + 'Laing early-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' + 'Laing early-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' Class: http://www.orpha.net/ORDO/Orphanet_2789 Label(s): Lateral meningocele syndrome + 'Lateral meningocele syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_93623 Label(s): Dent disease type 2 + 'Dent disease type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dent disease' Class: http://www.orpha.net/ORDO/Orphanet_436144 Label(s): Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome + 'Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare insulin-resistance syndrome' Class: http://www.orpha.net/ORDO/Orphanet_26 Label(s): Methylmalonic acidemia with homocystinuria + 'Methylmalonic acidemia with homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Methylmalonic acidemia with homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Classic organic aciduria' + 'Methylmalonic acidemia with homocystinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of cobalamin metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_314946 Label(s): OBSOLETE: Mycobacterium xenopi infection + 'OBSOLETE: Mycobacterium xenopi infection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Pulmonary non-tuberculous mycobacterial infection' Class: http://www.orpha.net/ORDO/Orphanet_1703 Label(s): Mosaic trisomy 14 + 'Mosaic trisomy 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_101978 Label(s): OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells + 'OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_165805 Label(s): Familial mesial temporal lobe epilepsy with febrile seizures + 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_440402 Label(s): Interstitial lung disease due to ABCA3 deficiency + 'Interstitial lung disease due to ABCA3 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' Class: http://www.orpha.net/ORDO/Orphanet_139444 Label(s): Leukoencephalopathy with bilateral anterior temporal lobe cysts + 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_238637 Label(s): Megacystis-megaureter syndrome + 'Megacystis-megaureter syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_352447 Label(s): Progressive external ophthalmoplegia-myopathy-emaciation syndrome + 'Progressive external ophthalmoplegia-myopathy-emaciation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Progressive external ophthalmoplegia-myopathy-emaciation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neuromuscular disorder with ocular motility/alignment anomaly' + 'Progressive external ophthalmoplegia-myopathy-emaciation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial DNA maintenance syndrome' + 'Progressive external ophthalmoplegia-myopathy-emaciation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Progressive external ophthalmoplegia-myopathy-emaciation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial myopathy' + 'Progressive external ophthalmoplegia-myopathy-emaciation syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neuromuscular disorder with ocular motility/alignment anomaly' Class: http://www.orpha.net/ORDO/Orphanet_294983 Label(s): Acheiria + 'Acheiria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_294988 Label(s): Congenital hypoplasia of thumb + 'Congenital hypoplasia of thumb' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Longitudinal limb defect' Class: http://www.orpha.net/ORDO/Orphanet_238642 Label(s): Primary megaureter, adult-onset form + 'Primary megaureter, adult-onset form' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital primary megaureter' Class: http://www.orpha.net/ORDO/Orphanet_68388 Label(s): OBSOLETE: Neurofibromatosis + 'OBSOLETE: Neurofibromatosis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Malformation syndrome with hamartosis' Class: http://www.orpha.net/ORDO/Orphanet_69088 Label(s): Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome + 'Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with combined immunodeficiency' + 'Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and primary lymphedema' + 'Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_69087 Label(s): Naegeli-Franceschetti-Jadassohn syndrome + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_1711 Label(s): Mosaic trisomy 17 + 'Mosaic trisomy 17' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_69085 Label(s): Limb-mammary syndrome + 'Limb-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectrodactyly with and without other manifestations' + 'Limb-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'EEC syndrome and related disorders' + 'Limb-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Deficient breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_69084 Label(s): Pure hair and nail ectodermal dysplasia + 'Pure hair and nail ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_69083 Label(s): Ectodermal dysplasia with natal teeth, Turnpenny type + 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_69082 Label(s): Odonto-tricho-ungual-digito-palmar syndrome + 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ectodermal dysplasia syndrome' + 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2816 Label(s): Spastic paraplegia-epilepsy-intellectual disability syndrome + 'Spastic paraplegia-epilepsy-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Classic glucose transporter type 1 deficiency syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1715 Label(s): Trisomy 18p + 'Trisomy 18p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy/tetrasomy of the short arm of chromosome 18' Class: http://www.orpha.net/ORDO/Orphanet_1716 Label(s): Distal trisomy 18q + 'Distal trisomy 18q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy of the long arm of chromosome 18' Class: http://www.orpha.net/ORDO/Orphanet_34217 Label(s): Naxos disease + 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with woolly hair' + 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arrhythmogenic right ventricular cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_2795 Label(s): Fowler urethral sphincter dysfunction syndrome + 'Fowler urethral sphincter dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare urogenital disease' Class: http://www.orpha.net/ORDO/Orphanet_139436 Label(s): Multicentric reticulohistiocytosis + 'Multicentric reticulohistiocytosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_46348 Label(s): Paroxysmal extreme pain disorder + 'Paroxysmal extreme pain disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare neurologic disease' + 'Paroxysmal extreme pain disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neurological disorder' Class: http://www.orpha.net/ORDO/Orphanet_69078 Label(s): Liposarcoma + 'Liposarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_69077 Label(s): Rhabdoid tumor + 'Rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_69076 Label(s): Familial renal glucosuria + 'Familial renal glucosuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glucose transport disorder' + 'Familial renal glucosuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_440427 Label(s): Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency + 'Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' + 'Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' Class: http://www.orpha.net/ORDO/Orphanet_280195 Label(s): Septopreoptic holoprosencephaly + 'Septopreoptic holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_93668 Label(s): OBSOLETE: Adult chronic recurrent multifocal osteomyelitis + 'OBSOLETE: Adult chronic recurrent multifocal osteomyelitis' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis' Class: http://www.orpha.net/ORDO/Orphanet_169100 Label(s): Immunodeficiency due to CD25 deficiency + 'Immunodeficiency due to CD25 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' + 'Immunodeficiency due to CD25 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic autoimmune enteropathy' Class: http://www.orpha.net/ORDO/Orphanet_2482 Label(s): Melhem-Fahl syndrome + 'Melhem-Fahl syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_238666 Label(s): Isolated congenital hypogonadotropic hypogonadism + 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital hypogonadotropic hypogonadism' + 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_363543 Label(s): Autosomal recessive limb-girdle muscular dystrophy type 2R + 'Autosomal recessive limb-girdle muscular dystrophy type 2R' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Desminopathy' Class: http://www.orpha.net/ORDO/Orphanet_440437 Label(s): Familial colorectal cancer Type X + 'Familial colorectal cancer Type X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary nonpolyposis colon cancer' Class: http://www.orpha.net/ORDO/Orphanet_69063 Label(s): Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization + 'Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder with multisystemic involvement and glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_280183 Label(s): Methylmalonic aciduria due to transcobalamin receptor defect + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of cobalamin metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_1724 Label(s): Mosaic trisomy 20 + 'Mosaic trisomy 20' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_64692 Label(s): Oroya fever + 'Oroya fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_159394 Label(s): tubulin alpha 1a + 'tubulin alpha 1a' SubClassOf 'disease-causing germline mutation(s) in' some 'Fetal akinesia deformation sequence' Class: http://www.orpha.net/ORDO/Orphanet_1309 Label(s): Medullary sponge kidney + 'Medullary sponge kidney' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic renal or urinary tract malformation' + 'Medullary sponge kidney' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_164726 Label(s): Acute myeloid leukemia and myelodysplastic syndromes related to radiation + 'Acute myeloid leukemia and myelodysplastic syndromes related to radiation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Radiation-induced disorder' + 'Acute myeloid leukemia and myelodysplastic syndromes related to radiation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139455 Label(s): Autosomal recessive bestrophinopathy + 'Autosomal recessive bestrophinopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_93682 Label(s): OBSOLETE: Pediatric Castleman disease + 'OBSOLETE: Pediatric Castleman disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Castleman disease' Class: http://www.orpha.net/ORDO/Orphanet_93685 Label(s): Unicentric Castleman disease + 'Unicentric Castleman disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Castleman disease' Class: http://www.orpha.net/ORDO/Orphanet_93686 Label(s): OBSOLETE: Multicentric Castleman disease + 'OBSOLETE: Multicentric Castleman disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Castleman disease' Class: http://www.orpha.net/ORDO/Orphanet_139477 Label(s): Al-Gazali-Dattani syndrome + 'Al-Gazali-Dattani syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'SRD5A3-CDG' Class: http://www.orpha.net/ORDO/Orphanet_139447 Label(s): Progressive cavitating leukoencephalopathy + 'Progressive cavitating leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_238688 Label(s): Neonatal iodine exposure + 'Neonatal iodine exposure' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Transient congenital hypothyroidism due to neonatal factor' Class: http://www.orpha.net/ORDO/Orphanet_91490 Label(s): Isolated congenital sclerocornea + 'Isolated congenital sclerocornea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Corneodysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_91492 Label(s): Early-onset non-syndromic cataract + 'Early-onset non-syndromic cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Developmental defect of the eye' + 'Early-onset non-syndromic cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with lens opacification' + 'Early-onset non-syndromic cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic developmental defect of the eye' + 'Early-onset non-syndromic cataract' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic disorder with lens opacification' Class: http://www.orpha.net/ORDO/Orphanet_537072 Label(s): PLG-related hereditary angioedema with normal C1Inh + 'PLG-related hereditary angioedema with normal C1Inh' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hereditary angioedema with normal C1Inh' Class: http://www.orpha.net/ORDO/Orphanet_3008 Label(s): Pyruvate carboxylase deficiency + 'Pyruvate carboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Gluconeogenesis disorder' Class: http://www.orpha.net/ORDO/Orphanet_238691 Label(s): OBSOLETE: Congenital liver hemangioma + 'OBSOLETE: Congenital liver hemangioma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Congenital hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_164736 Label(s): Familial advanced sleep-phase syndrome + 'Familial advanced sleep-phase syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic neurological disorder' + 'Familial advanced sleep-phase syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare sleep disorder' Class: http://www.orpha.net/ORDO/Orphanet_364577 Label(s): Intellectual disability-brachydactyly-Pierre Robin syndrome + 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disease with Pierre Robin syndrome' + 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndromic Pierre Robin syndrome' + 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3011 Label(s): Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome + 'Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_600194 Label(s): Factor V Atlanta bleeding disorder + 'Factor V Atlanta bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Factor V short isoforms-related bleeding disorder' Class: http://www.orpha.net/ORDO/Orphanet_3016 Label(s): Absent radius-anogenital anomalies syndrome + 'Absent radius-anogenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Absent radius-anogenital anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_3018 Label(s): Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome + 'Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_3019 Label(s): Ramon syndrome + 'Ramon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ramon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Ramon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Ramon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ramon syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_99967 Label(s): Myxoid/round cell liposarcoma + 'Myxoid/round cell liposarcoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Liposarcoma' Class: http://www.orpha.net/ORDO/Orphanet_2842 Label(s): Penoscrotal transposition + 'Penoscrotal transposition' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic urogenital tract malformation of male' Class: http://www.orpha.net/ORDO/Orphanet_2843 Label(s): Pentosuria + 'Pentosuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorders of pentose/polyol metabolism' Class: http://www.orpha.net/ORDO/Orphanet_139431 Label(s): Jeavons syndrome + 'Jeavons syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1742 Label(s): Trisomy 5p + 'Trisomy 5p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal disease with overgrowth' + 'Trisomy 5p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chromosomal anomaly with cataract' + 'Trisomy 5p' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial trisomy/tetrasomy of the short arm of chromosome 5' Class: http://www.orpha.net/ORDO/Orphanet_2848 Label(s): Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome + 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic systemic or rheumatologic disease' + 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_241023 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to cisatracurium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to cisatracurium treatment' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_1747 Label(s): Mosaic trisomy 7 + 'Mosaic trisomy 7' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_3027 Label(s): Caudal regression syndrome + 'Caudal regression syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Caudal regression-sirenomelia spectrum' + 'Caudal regression syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Caudal regression syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation of the neurenteric canal, spinal cord and column' Class: http://www.orpha.net/ORDO/Orphanet_251855 Label(s): Anaplastic/large cell medulloblastoma + 'Anaplastic/large cell medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Medulloblastoma' Class: http://www.orpha.net/ORDO/Orphanet_139471 Label(s): Microphthalmia with brain and digit anomalies + 'Microphthalmia with brain and digit anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia with brain and digit anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Microphthalmia with brain and digit anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Microphthalmia with brain and digit anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Microphthalmia with brain and digit anomalies' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_352530 Label(s): Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome + 'Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic obesity' + 'Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_100024 Label(s): Mu-heavy chain disease + 'Mu-heavy chain disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heavy chain disease' Class: http://www.orpha.net/ORDO/Orphanet_251867 Label(s): Classic medulloblastoma + 'Classic medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Medulloblastoma' Class: http://www.orpha.net/ORDO/Orphanet_100993 Label(s): Autosomal dominant spastic paraplegia type 12 + 'Autosomal dominant spastic paraplegia type 12' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_1752 Label(s): Trisomy 8q + 'Trisomy 8q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 8' Class: http://www.orpha.net/ORDO/Orphanet_101096 Label(s): Aregenerative anemia + 'Aregenerative anemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Refractory cytopenia with multilineage dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_231736 Label(s): Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome + 'Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ectopia lentis' Class: http://www.orpha.net/ORDO/Orphanet_2399 Label(s): Nasopalpebral lipoma-coloboma syndrome + 'Nasopalpebral lipoma-coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic eyelid coloboma' + 'Nasopalpebral lipoma-coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nasopalpebral lipoma-coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2398 Label(s): Multiple symmetric lipomatosis + 'Multiple symmetric lipomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Subcutaneous tissue disease' + 'Multiple symmetric lipomatosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic subcutaneous tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_3041 Label(s): Intellectual disability-balding-patella luxation-acromicria syndrome + 'Intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acromelic dysplasia' + 'Intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_104078 Label(s): Unclassified intestinal pseudoobstruction + 'Unclassified intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Chronic intestinal pseudoobstruction' Class: http://www.orpha.net/ORDO/Orphanet_3043 Label(s): OBSOLETE: Intellectual disability-unusual facies syndrome + 'OBSOLETE: Intellectual disability-unusual facies syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3047 Label(s): Blepharophimosis-intellectual disability syndrome, SBBYS type + 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Blepharophimosis-intellectual disability syndrome' + 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' + 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'KAT6B-related multiple congenital anomalies syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254793 Label(s): OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA + 'OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' Class: http://www.orpha.net/ORDO/Orphanet_1327 Label(s): Camptodactyly syndrome, Guadalajara type 1 + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2765 Label(s): OBSOLETE: Hypertrichotic osteochondrodysplasia + 'OBSOLETE: Hypertrichotic osteochondrodysplasia' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Cantú syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210272 Label(s): Mal de débarquement + 'Mal de débarquement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare otorhinolaryngologic disease' Class: http://www.orpha.net/ORDO/Orphanet_2387 Label(s): Leukonychia totalis + 'Leukonychia totalis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2386 Label(s): Leukoencephalopathy-palmoplantar keratoderma syndrome + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_3051 Label(s): Nicolaides-Baraitser syndrome + 'Nicolaides-Baraitser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Nicolaides-Baraitser syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3315 Label(s): OBSOLETE: Thiopurine S-methyltransferase deficiency + 'OBSOLETE: Thiopurine S-methyltransferase deficiency' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_2382 Label(s): Lennox-Gastaut syndrome + 'Lennox-Gastaut syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect' + 'Lennox-Gastaut syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Childhood-onset epilepsy syndrome' + 'Lennox-Gastaut syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' + 'Lennox-Gastaut syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3055 Label(s): X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome + 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic disorder with strabismus' + 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal ichthyosis syndrome with other associated signs' + 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_3056 Label(s): X-linked intellectual disability, Brooks type + 'X-linked intellectual disability, Brooks type' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3057 Label(s): Monoamine oxidase A deficiency + 'Monoamine oxidase A deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Monoamine oxidase A deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Monoamine oxidase A deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of neurotransmitter metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_96105 Label(s): Distal trisomy 13q + 'Distal trisomy 13q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 13' Class: http://www.orpha.net/ORDO/Orphanet_319340 Label(s): Carney complex-trismus-pseudocamptodactyly syndrome + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare cardiac tumor' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Hyperpigmentation of the skin' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cardiac tumor' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic hyperpigmentation of the skin' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Heart-hand syndrome' Class: http://www.orpha.net/ORDO/Orphanet_37042 Label(s): Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polyendocrinopathy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic polyendocrinopathy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Immunodeficiency syndrome with autoimmunity' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic autoimmune enteropathy' Class: http://www.orpha.net/ORDO/Orphanet_180129 Label(s): Partial septate uterus + 'Partial septate uterus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Septate uterus' Class: http://www.orpha.net/ORDO/Orphanet_2378 Label(s): Laurin-Sandrow syndrome + 'Laurin-Sandrow syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_370097 Label(s): Oculocutaneous albinism type 6 + 'Oculocutaneous albinism type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism' Class: http://www.orpha.net/ORDO/Orphanet_3061 Label(s): OBSOLETE: X-linked intellectual disability, Raynaud type + 'OBSOLETE: X-linked intellectual disability, Raynaud type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3063 Label(s): X-linked intellectual disability, Snyder type + 'X-linked intellectual disability, Snyder type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Snyder type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3064 Label(s): OBSOLETE: X-linked intellectual disability, Wittner type + 'OBSOLETE: X-linked intellectual disability, Wittner type' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_370091 Label(s): Oculocutaneous albinism type 5 + 'Oculocutaneous albinism type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Oculocutaneous albinism' Class: http://www.orpha.net/ORDO/Orphanet_3067 Label(s): OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome + 'OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_369847 Label(s): Intellectual disability-hyperkinetic movement-truncal ataxia syndrome + 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare choreic movement disorder' + 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_254334 Label(s): Autosomal recessive intermediate Charcot-Marie-Tooth disease type B + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_319332 Label(s): Autosomal recessive myogenic arthrogryposis multiplex congenita + 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Arthrogryposis multiplex congenita' + 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_93937 Label(s): OBSOLETE: Terminal transverse defects of arm + 'OBSOLETE: Terminal transverse defects of arm' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Terminal transverse limb defect' Class: http://www.orpha.net/ORDO/Orphanet_139474 Label(s): 17q11.2 microduplication syndrome + '17q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial duplication of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_180139 Label(s): Uterine hypoplasia + 'Uterine hypoplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic uterovaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_1332 Label(s): Medullary thyroid carcinoma + 'Medullary thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_2369 Label(s): Limb body wall complex + 'Limb body wall complex' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_2368 Label(s): Gastroschisis + 'Gastroschisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary short bowel syndrome' + 'Gastroschisis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_3071 Label(s): Costello syndrome + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Noonan syndrome and Noonan-related syndrome' + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic dermis elastic tissue disorder' + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with a moyamoya angiopathy' + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare developmental defect with skin/mucosae involvement' + 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Polymalformative genetic syndrome with increased risk of developing cancer' Class: http://www.orpha.net/ORDO/Orphanet_2364 Label(s): Glycogen storage disease due to lactate dehydrogenase deficiency + 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' Class: http://www.orpha.net/ORDO/Orphanet_488650 Label(s): Distal myopathy, Tateyama type + 'Distal myopathy, Tateyama type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Qualitative or quantitative defects of caveolin-3' + 'Distal myopathy, Tateyama type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_3077 Label(s): X-linked intellectual disability-psychosis-macroorchidism syndrome + 'X-linked intellectual disability-psychosis-macroorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319325 Label(s): Tubulocystic renal cell carcinoma + 'Tubulocystic renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_180142 Label(s): Absence of uterine body + 'Absence of uterine body' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic uterovaginal malformation' + 'Absence of uterine body' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare female infertility due to an implantation defect' Class: http://www.orpha.net/ORDO/Orphanet_319322 Label(s): Mucinous tubular and spindle cell renal carcinoma + 'Mucinous tubular and spindle cell renal carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_420686 Label(s): Woolly hair-palmoplantar keratoderma syndrome + 'Woolly hair-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with woolly hair' + 'Woolly hair-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_231111 Label(s): Drug-induced lupus erythematosus + 'Drug-induced lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Systemic disease with skin involvement' + 'Drug-induced lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_2876 Label(s): PHAVER syndrome + 'PHAVER syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'PHAVER syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_488647 Label(s): DDX41-related hematologic malignancy predisposition syndrome + 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inherited hematologic cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2357 Label(s): Bronchogenic cyst + 'Bronchogenic cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Respiratory malformation' + 'Bronchogenic cyst' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Non-syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_3080 Label(s): Intellectual disability, Wolff type + 'Intellectual disability, Wolff type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability, Wolff type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_370076 Label(s): Fetal carbamazepine syndrome + 'Fetal carbamazepine syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Fetal anticonvulsant syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2879 Label(s): Phocomelia, Schinzel type + 'Phocomelia, Schinzel type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Phocomelia, Schinzel type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_3084 Label(s): Mirhosseini-Holmes-Walton syndrome + 'Mirhosseini-Holmes-Walton syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Cohen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3085 Label(s): Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome + 'Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy' + 'Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic rod-cone dystrophy' + 'Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic deafness' + 'Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_3086 Label(s): Autosomal dominant vitreoretinochoroidopathy + 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic microspherophakia' + 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_3087 Label(s): Retinohepatoendocrinologic syndrome + 'Retinohepatoendocrinologic syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Alström syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3088 Label(s): Revesz syndrome + 'Revesz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare constitutional aplastic anemia' + 'Revesz syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_319319 Label(s): Renal medullary carcinoma + 'Renal medullary carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_319514 Label(s): Combined oxidative phosphorylation defect type 13 + 'Combined oxidative phosphorylation defect type 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_319314 Label(s): OBSOLETE: Renal cell carcinoma associated with neuroblastoma + 'OBSOLETE: Renal cell carcinoma associated with neuroblastoma' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_139441 Label(s): Hypomyelination with atrophy of basal ganglia and cerebellum + 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_439854 Label(s): Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease + 'Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease' + 'Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Glycogen storage disease with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_541443 Label(s): Anomalous aortic origin of the left coronary artery + 'Anomalous aortic origin of the left coronary artery' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anomalous aortic origin of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_98798 Label(s): Isochromosomy Yq + 'Isochromosomy Yq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isochromosome Y' Class: http://www.orpha.net/ORDO/Orphanet_98797 Label(s): Isochromosomy Yp + 'Isochromosomy Yp' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isochromosome Y' Class: http://www.orpha.net/ORDO/Orphanet_2349 Label(s): Muscular pseudohypertrophy-hypothyroidism syndrome + 'Muscular pseudohypertrophy-hypothyroidism syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_98794 Label(s): Angelman syndrome due to maternal 15q11q13 deletion + 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 15' + 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Angelman syndrome' Class: http://www.orpha.net/ORDO/Orphanet_488635 Label(s): Early-onset epilepsy-intellectual disability-brain anomalies syndrome + 'Early-onset epilepsy-intellectual disability-brain anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Early-onset epilepsy-intellectual disability-brain anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Early-onset epilepsy-intellectual disability-brain anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98791 Label(s): Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 + 'Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with alpha-thalassemia as a major feature' + 'Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_2342 Label(s): Haim-Munk syndrome + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with odontal and/or periodontal component' + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of lysosomal-related organelles' Class: http://www.orpha.net/ORDO/Orphanet_3326 Label(s): Thymic-renal-anal-lung dysplasia + 'Thymic-renal-anal-lung dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic renal or urinary tract malformation' + 'Thymic-renal-anal-lung dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Thymic-renal-anal-lung dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3097 Label(s): Meacham syndrome + 'Meacham syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic uterovaginal malformation' + 'Meacham syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with 46,XY disorder of sex development' + 'Meacham syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with disorder of sex development of gynecological interest' Class: http://www.orpha.net/ORDO/Orphanet_2116 Label(s): Hartnup disease + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare photodermatosis' + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic photodermatosis' + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Nephropathy secondary to a storage or other metabolic disease' + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of neutral amino acid transport' Class: http://www.orpha.net/ORDO/Orphanet_3099 Label(s): Rheumatic fever + 'Rheumatic fever' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_477993 Label(s): Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome + 'Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' + 'Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_139450 Label(s): Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome + 'Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic choroidal disorder' + 'Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' + 'Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_1782 Label(s): Dysosteosclerosis + 'Dysosteosclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Osteopetrosis and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_98788 Label(s): Pitt-Rogers-Danks syndrome + 'Pitt-Rogers-Danks syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Wolf-Hirschhorn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_370059 Label(s): NEVADA syndrome + 'NEVADA syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_2337 Label(s): Non-epidermolytic palmoplantar keratoderma + 'Non-epidermolytic palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_2333 Label(s): Kenny-Caffey syndrome + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Slender bone dysplasia' + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with hypoparathyroidism' + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic malformation syndrome with short stature' + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_1345 Label(s): Cardiomyopathy-cataract-hip spine disease syndrome + 'Cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' + 'Cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome associated with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_2331 Label(s): Kawasaki disease + 'Kawasaki disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pediatric vasculitis' + 'Kawasaki disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Predominantly medium-vessel vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_2330 Label(s): Kasabach-Merritt syndrome + 'Kasabach-Merritt syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hemorrhagic disorder due to an acquired platelet anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98322 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98323 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_93940 Label(s): Laryngotracheoesophageal cleft type 3 + 'Laryngotracheoesophageal cleft type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Laryngotracheoesophageal cleft' Class: http://www.orpha.net/ORDO/Orphanet_180176 Label(s): Familial juvenile hypertrophy of the breast + 'Familial juvenile hypertrophy of the breast' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Excess breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_98326 Label(s): OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder + 'OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_38874 Label(s): Dihydropyrimidinuria + 'Dihydropyrimidinuria' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of pyrimidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_2329 Label(s): Karsch-Neugebauer syndrome + 'Karsch-Neugebauer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Karsch-Neugebauer syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_2328 Label(s): Kapur-Toriello syndrome + 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98773 Label(s): Spinocerebellar ataxia type 21 + 'Spinocerebellar ataxia type 21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' + 'Spinocerebellar ataxia type 21' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_370046 Label(s): Didymosis aplasticosebacea + 'Didymosis aplasticosebacea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_98770 Label(s): Spinocerebellar ataxia type 16 + 'Spinocerebellar ataxia type 16' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Spinocerebellar ataxia type 15/16' Class: http://www.orpha.net/ORDO/Orphanet_536471 Label(s): Spondylodysplastic Ehlers-Danlos syndrome + 'Spondylodysplastic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2321 Label(s): Jung syndrome + 'Jung syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic hypothyroidism' + 'Jung syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Anterior segment developmental abnormality with extraocular manifestations' Class: http://www.orpha.net/ORDO/Orphanet_254723 Label(s): Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome + 'Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'H syndrome' Class: http://www.orpha.net/ORDO/Orphanet_180182 Label(s): Supernumerary breasts + 'Supernumerary breasts' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Excess breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_52430 Label(s): Inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with increased bone density' + 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontotemporal degeneration with dementia' + 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Inclusion myopathy' + 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic frontotemporal degeneration with dementia' Class: http://www.orpha.net/ORDO/Orphanet_618891 Label(s): Chronic neurovisceral acid sphingomyelinase deficiency + 'Chronic neurovisceral acid sphingomyelinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hypercholesterolemia' + 'Chronic neurovisceral acid sphingomyelinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Sphingolipidosis with epilepsy' + 'Chronic neurovisceral acid sphingomyelinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurometabolic disease' + 'Chronic neurovisceral acid sphingomyelinase deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acid sphingomyelinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_139480 Label(s): Autosomal recessive spastic paraplegia type 39 + 'Autosomal recessive spastic paraplegia type 39' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 39' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' Class: http://www.orpha.net/ORDO/Orphanet_1791 Label(s): Frontofacionasal dysplasia + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic ankyloblepharon filiforme adnatum' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Median facial cleft' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Frontonasal dysplasia' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Branchial arch or oral-acral syndrome' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic eyelid coloboma' + 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98769 Label(s): Spinocerebellar ataxia type 15/16 + 'Spinocerebellar ataxia type 15/16' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_98768 Label(s): Spinocerebellar ataxia type 13 + 'Spinocerebellar ataxia type 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' + 'Spinocerebellar ataxia type 13' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_98767 Label(s): Spinocerebellar ataxia type 11 + 'Spinocerebellar ataxia type 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type III' Class: http://www.orpha.net/ORDO/Orphanet_98766 Label(s): Spinocerebellar ataxia type 5 + 'Spinocerebellar ataxia type 5' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type III' Class: http://www.orpha.net/ORDO/Orphanet_98765 Label(s): Spinocerebellar ataxia type 4 + 'Spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_370039 Label(s): Angora hair nevus + 'Angora hair nevus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_98763 Label(s): Spinocerebellar ataxia type 14 + 'Spinocerebellar ataxia type 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' + 'Spinocerebellar ataxia type 14' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98761 Label(s): Spinocerebellar ataxia type 10 + 'Spinocerebellar ataxia type 10' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type IV' Class: http://www.orpha.net/ORDO/Orphanet_98760 Label(s): Spinocerebellar ataxia type 8 + 'Spinocerebellar ataxia type 8' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_370034 Label(s): Familial syringomyelia + 'Familial syringomyelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic medullar disease' + 'Familial syringomyelia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Primary syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_98113 Label(s): OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly + 'OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Cystic fibrosis' Class: http://www.orpha.net/ORDO/Orphanet_2310 Label(s): Absence deformity of leg-cataract syndrome + 'Absence deformity of leg-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic genetic cataract' + 'Absence deformity of leg-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic syndrome with limb reduction defects' + 'Absence deformity of leg-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndrome with limb reduction defects' + 'Absence deformity of leg-cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_98115 Label(s): OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly + 'OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Thomsen and Becker disease' Class: http://www.orpha.net/ORDO/Orphanet_52428 Label(s): Congenital muscular dystrophy type 1C + 'Congenital muscular dystrophy type 1C' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_52427 Label(s): Retinitis punctata albescens + 'Retinitis punctata albescens' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated progressive inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_538872 Label(s): Vegetative pyoderma gangrenosum + 'Vegetative pyoderma gangrenosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyoderma gangrenosum' Class: http://www.orpha.net/ORDO/Orphanet_329258 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2Q + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_139485 Label(s): Autosomal recessive ataxia due to ubiquinone deficiency + 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal recessive cerebellar ataxia' + 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Coenzyme Q10 deficiency' + 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_329255 Label(s): Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Oculocerebrofacial syndrome, Kaufman type' Class: http://www.orpha.net/ORDO/Orphanet_329252 Label(s): OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome + 'OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_98759 Label(s): Spinocerebellar ataxia type 17 + 'Spinocerebellar ataxia type 17' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Spinocerebellar ataxia type 17' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Huntington disease-like syndrome' + 'Spinocerebellar ataxia type 17' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Spinocerebellar ataxia type 17' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_98758 Label(s): Spinocerebellar ataxia type 6 + 'Spinocerebellar ataxia type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Neurological channelopathy of the central nervous system due to a genetic calcium channel defect' + 'Spinocerebellar ataxia type 6' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type III' Class: http://www.orpha.net/ORDO/Orphanet_98757 Label(s): Spinocerebellar ataxia type 3 + 'Spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' + 'Spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Huntington disease-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98756 Label(s): Spinocerebellar ataxia type 2 + 'Spinocerebellar ataxia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' + 'Spinocerebellar ataxia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Spinocerebellar ataxia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Spinocerebellar ataxia type 2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Huntington disease-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98755 Label(s): Spinocerebellar ataxia type 1 + 'Spinocerebellar ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Spinocerebellar ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Spinocerebellar ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Huntington disease-like syndrome' + 'Spinocerebellar ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_2308 Label(s): Jacobsen syndrome + 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic constitutional thrombocytopenia' + 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder with ptosis' + 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Partial deletion of the long arm of chromosome 11' Class: http://www.orpha.net/ORDO/Orphanet_98753 Label(s): OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect + 'OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune neurological channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_98752 Label(s): OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect + 'OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune neurological channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_98751 Label(s): OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect + 'OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Autoimmune neurological channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_137698 Label(s): Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk + 'Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_254707 Label(s): Faisalabad histiocytosis + 'Faisalabad histiocytosis' SubClassOf http://www.orpha.net/ORDO/moved_to some 'H syndrome' Class: http://www.orpha.net/ORDO/Orphanet_294422 Label(s): Chronic intestinal failure + 'Chronic intestinal failure' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for bowel transplant' + 'Chronic intestinal failure' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_538869 Label(s): Bullous pyoderma gangrenosum + 'Bullous pyoderma gangrenosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyoderma gangrenosum' Class: http://www.orpha.net/ORDO/Orphanet_52416 Label(s): Mantle cell lymphoma + 'Mantle cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Aggressive B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_538866 Label(s): Pustular pyoderma gangrenosum + 'Pustular pyoderma gangrenosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyoderma gangrenosum' Class: http://www.orpha.net/ORDO/Orphanet_180261 Label(s): Phyllodes tumor of the breast + 'Phyllodes tumor of the breast' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare malignant breast tumor' + 'Phyllodes tumor of the breast' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare benign breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_538863 Label(s): Classic pyoderma gangrenosum + 'Classic pyoderma gangrenosum' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Pyoderma gangrenosum' Class: http://www.orpha.net/ORDO/Orphanet_329249 Label(s): Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency + 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_576379 Label(s): Iatrogenic Creutzfeldt-Jakob disease + 'Iatrogenic Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Acquired Creutzfeldt-Jakob disease' Class: http://www.orpha.net/ORDO/Orphanet_98336 Label(s): OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection + 'OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_329242 Label(s): Congenital chronic diarrhea with protein-losing enteropathy + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic intractable diarrhea of infancy' + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_231147 Label(s): Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Maternal uniparental disomy' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Silver-Russell syndrome' Class: http://www.orpha.net/ORDO/Orphanet_370015 Label(s): Spondyloepimetaphyseal dysplasia, Isidor type + 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_294415 Label(s): Renal-hepatic-pancreatic dysplasia + 'Renal-hepatic-pancreatic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Renal ciliopathy' + 'Renal-hepatic-pancreatic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare parenchymal liver disease' + 'Renal-hepatic-pancreatic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic cystic renal disease' + 'Renal-hepatic-pancreatic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare disorder potentially indicated for kidney transplant' + 'Renal-hepatic-pancreatic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Syndromic visceral malformation' + 'Renal-hepatic-pancreatic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic parenchymatous liver disease' + 'Renal-hepatic-pancreatic dysplasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Retinal ciliopathy due to mutation in nephronophthisis gene' Class: http://www.orpha.net/ORDO/Orphanet_370010 Label(s): Intellectual disability-facial dysmorphism-hand anomalies syndrome + 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_530033 Label(s): Dermoid or epidermoid cyst of the central nervous system + 'Dermoid or epidermoid cyst of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Genetic non-syndromic central nervous system malformation' + 'Dermoid or epidermoid cyst of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central nervous system cystic malformation' Class: http://www.orpha.net/ORDO/Orphanet_300557 Label(s): Carcinoma of the ampulla of Vater + 'Carcinoma of the ampulla of Vater' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare gastroenterologic disease' + 'Carcinoma of the ampulla of Vater' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare digestive tumor' Class: http://www.orpha.net/ORDO/Orphanet_1137 Label(s): OBSOLETE: Pulmonary aortic stenosis obstructive uropathy + 'OBSOLETE: Pulmonary aortic stenosis obstructive uropathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_300552 Label(s): Follicular cholangitis and pancreatitis + 'Follicular cholangitis and pancreatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare pancreatic disease' + 'Follicular cholangitis and pancreatitis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare biliary tract disease' Class: http://www.orpha.net/ORDO/Orphanet_329235 Label(s): X-linked central congenital hypothyroidism with late-onset testicular enlargement + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Central congenital hypothyroidism' Class: http://www.orpha.net/ORDO/Orphanet_98734 Label(s): OBSOLETE: Cardioskeletal syndrome + 'OBSOLETE: Cardioskeletal syndrome' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98732 Label(s): OBSOLETE: Syndrome associated with a congenital cardiopathy + 'OBSOLETE: Syndrome associated with a congenital cardiopathy' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_370006 Label(s): Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome + 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome' SubClassOf http://www.orpha.net/ORDO/moved_to some 'Septo-optic dysplasia spectrum' Class: http://www.orpha.net/ORDO/Orphanet_98730 Label(s): OBSOLETE: Atrioventricular discordance + 'OBSOLETE: Atrioventricular discordance' SubClassOf http://www.orpha.net/ORDO/referred_to some 'Criss-cross heart' Class: http://www.orpha.net/ORDO/Orphanet_494421 Label(s): Sacrococcygeal teratoma + 'Sacrococcygeal teratoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Extragonadal teratoma' Class: http://www.orpha.net/ORDO/Orphanet_370002 Label(s): Focal palmoplantar keratoderma with joint keratoses + 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Isolated focal palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_180247 Label(s): Vaginal carcinoma + 'Vaginal carcinoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare vulvovaginal tumor' Class: http://www.orpha.net/ORDO/Orphanet_139491 Label(s): Hemochromatosis type 4 + 'Hemochromatosis type 4' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Rare hereditary hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_140481 Label(s): Autosomal dominant slowed nerve conduction velocity + 'Autosomal dominant slowed nerve conduction velocity' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_329228 Label(s): Microcephalic primordial dwarfism due to ZNF335 deficiency + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf http://purl.obolibrary.org/obo/BFO_0000050 some 'Microcephalic primordial dwarfism' ################ @Classes new to this version Class: http://www.orpha.net/ORDO/Orphanet_629006 Label(s): family with sequence similarity 50 member A + 'family with sequence similarity 50 member A' SubClassOf 'has_chromosomal location' value "Xq28" + 'family with sequence similarity 50 member A' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'family with sequence similarity 50 member A' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_631338 Label(s): TBC1 domain family member 2B + 'TBC1 domain family member 2B' SubClassOf 'gene with protein product' + 'TBC1 domain family member 2B' SubClassOf 'disease-causing germline mutation(s) in' some 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' + 'TBC1 domain family member 2B' SubClassOf 'has_chromosomal location' value "15q24.3-q25.1" Class: http://www.orpha.net/ORDO/Orphanet_633099 Label(s): PAICS deficiency + 'PAICS deficiency' SubClassOf 'part_of' some 'Lethal multiple congenital anomalies/dysmorphic syndrome' + 'PAICS deficiency' SubClassOf 'disorder' + 'PAICS deficiency' SubClassOf 'disease' + 'PAICS deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_160303 Label(s): mitochondrially encoded tRNA-Ile (AUU/C) + 'mitochondrially encoded tRNA-Ile (AUU/C)' SubClassOf 'non coding RNA' + 'mitochondrially encoded tRNA-Ile (AUU/C)' SubClassOf 'has_chromosomal location' value "mitochondria" + 'mitochondrially encoded tRNA-Ile (AUU/C)' SubClassOf 'disease-causing germline mutation(s) in' some 'Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation' Class: http://www.orpha.net/ORDO/Orphanet_600014 Label(s): phosphate cytidylyltransferase 2, ethanolamine + 'phosphate cytidylyltransferase 2, ethanolamine' SubClassOf 'has_chromosomal location' value "17q25.3" + 'phosphate cytidylyltransferase 2, ethanolamine' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 82' + 'phosphate cytidylyltransferase 2, ethanolamine' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_572317 Label(s): proline and glutamate rich with coiled coil 1 + 'proline and glutamate rich with coiled coil 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital tufting enteropathy' + 'proline and glutamate rich with coiled coil 1' SubClassOf 'gene with protein product' + 'proline and glutamate rich with coiled coil 1' SubClassOf 'has_chromosomal location' value "16p13.3" Class: http://www.orpha.net/ORDO/Orphanet_628610 Label(s): growth factor receptor bound protein 10 + 'growth factor receptor bound protein 10' SubClassOf 'has_chromosomal location' value "7p12.1" + 'growth factor receptor bound protein 10' SubClassOf 'candidate gene tested in' some 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' + 'growth factor receptor bound protein 10' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_509152 Label(s): NFE2 like bZIP transcription factor 2 + 'NFE2 like bZIP transcription factor 2' SubClassOf 'gene with protein product' + 'NFE2 like bZIP transcription factor 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome' + 'NFE2 like bZIP transcription factor 2' SubClassOf 'has_chromosomal location' value "2q31.2" Class: http://www.orpha.net/ORDO/Orphanet_631877 Label(s): deoxyhypusine hydroxylase + 'deoxyhypusine hydroxylase' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'deoxyhypusine hydroxylase' SubClassOf 'has_chromosomal location' value "19p13.3" + 'deoxyhypusine hydroxylase' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_631872 Label(s): choline kinase alpha + 'choline kinase alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'choline kinase alpha' SubClassOf 'has_chromosomal location' value "11q13.2" + 'choline kinase alpha' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_495025 Label(s): plexin A1 + 'plexin A1' SubClassOf 'has_chromosomal location' value "3q21.3" + 'plexin A1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'plexin A1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_614208 Label(s): ubiquitin like modifier activating enzyme 2 + 'ubiquitin like modifier activating enzyme 2' SubClassOf 'has_chromosomal location' value "19q13.11" + 'ubiquitin like modifier activating enzyme 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Aplasia cutis congenita' + 'ubiquitin like modifier activating enzyme 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_628591 Label(s): SHQ1, H/ACA ribonucleoprotein assembly factor + 'SHQ1, H/ACA ribonucleoprotein assembly factor' SubClassOf 'gene with protein product' + 'SHQ1, H/ACA ribonucleoprotein assembly factor' SubClassOf 'has_chromosomal location' value "3p13" + 'SHQ1, H/ACA ribonucleoprotein assembly factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Early-onset generalized limb-onset dystonia' Class: http://www.orpha.net/ORDO/Orphanet_628919 Label(s): ATPase plasma membrane Ca2+ transporting 1 + 'ATPase plasma membrane Ca2+ transporting 1' SubClassOf 'has_chromosomal location' value "12q21.33" + 'ATPase plasma membrane Ca2+ transporting 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'ATPase plasma membrane Ca2+ transporting 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_628996 Label(s): Rac family small GTPase 3 + 'Rac family small GTPase 3' SubClassOf 'has_chromosomal location' value "17q25.3" + 'Rac family small GTPase 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'Rac family small GTPase 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_633035 Label(s): Intellectual disability-early-onset cataract-microcephaly syndrome + 'Intellectual disability-early-onset cataract-microcephaly syndrome' SubClassOf 'disorder' + 'Intellectual disability-early-onset cataract-microcephaly syndrome' SubClassOf 'part_of' some 'Syndromic cataract' + 'Intellectual disability-early-onset cataract-microcephaly syndrome' SubClassOf 'disease' + 'Intellectual disability-early-onset cataract-microcephaly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-early-onset cataract-microcephaly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_629002 Label(s): chondroitin sulfate N-acetylgalactosaminyltransferase 1 + 'chondroitin sulfate N-acetylgalactosaminyltransferase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Desbuquois syndrome' + 'chondroitin sulfate N-acetylgalactosaminyltransferase 1' SubClassOf 'gene with protein product' + 'chondroitin sulfate N-acetylgalactosaminyltransferase 1' SubClassOf 'has_chromosomal location' value "8p21.3" Class: http://www.orpha.net/ORDO/Orphanet_629035 Label(s): importin 8 + 'importin 8' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Loeys-Dietz syndrome' + 'importin 8' SubClassOf 'gene with protein product' + 'importin 8' SubClassOf 'has_chromosomal location' value "12p11.21" Class: http://www.orpha.net/ORDO/Orphanet_629037 Label(s): zinc finger protein 699 + 'zinc finger protein 699' SubClassOf 'gene with protein product' + 'zinc finger protein 699' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'zinc finger protein 699' SubClassOf 'has_chromosomal location' value "19p13.2" Class: http://www.orpha.net/ORDO/Orphanet_629039 Label(s): Yip1 interacting factor homolog B, membrane trafficking protein + 'Yip1 interacting factor homolog B, membrane trafficking protein' SubClassOf 'has_chromosomal location' value "19q13.2" + 'Yip1 interacting factor homolog B, membrane trafficking protein' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'Yip1 interacting factor homolog B, membrane trafficking protein' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_629045 Label(s): gem nuclear organelle associated protein 5 + 'gem nuclear organelle associated protein 5' SubClassOf 'gene with protein product' + 'gem nuclear organelle associated protein 5' SubClassOf 'has_chromosomal location' value "5q33.2" + 'gem nuclear organelle associated protein 5' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_631852 Label(s): Rac GTPase activating protein 1 + 'Rac GTPase activating protein 1' SubClassOf 'has_chromosomal location' value "12q13.12" + 'Rac GTPase activating protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type III' + 'Rac GTPase activating protein 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_631868 Label(s): mal, T cell differentiation protein + 'mal, T cell differentiation protein' SubClassOf 'gene with protein product' + 'mal, T cell differentiation protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher-like disease' + 'mal, T cell differentiation protein' SubClassOf 'has_chromosomal location' value "2q11.1" Class: http://www.orpha.net/ORDO/Orphanet_631879 Label(s): adhesion G protein-coupled receptor L1 + 'adhesion G protein-coupled receptor L1' SubClassOf 'has_chromosomal location' value "19p13.12" + 'adhesion G protein-coupled receptor L1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'adhesion G protein-coupled receptor L1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_631882 Label(s): coiled-coil domain containing 34 + 'coiled-coil domain containing 34' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'coiled-coil domain containing 34' SubClassOf 'gene with protein product' + 'coiled-coil domain containing 34' SubClassOf 'has_chromosomal location' value "11p14.1" Class: http://www.orpha.net/ORDO/Orphanet_600577 Label(s): G protein subunit beta 2 + 'G protein subunit beta 2' SubClassOf 'has_chromosomal location' value "7q22.1" + 'G protein subunit beta 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'G protein subunit beta 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_471362 Label(s): zinc finger protein 526 + 'zinc finger protein 526' SubClassOf 'has_chromosomal location' value "19q13.2" + 'zinc finger protein 526' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'zinc finger protein 526' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_629004 Label(s): SCY1 like pseudokinase 2 + 'SCY1 like pseudokinase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Neurogenic arthrogryposis multiplex congenita' + 'SCY1 like pseudokinase 2' SubClassOf 'has_chromosomal location' value "12q23.1" + 'SCY1 like pseudokinase 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_586706 Label(s): chromodomain helicase DNA binding protein 3 + 'chromodomain helicase DNA binding protein 3' SubClassOf 'disease-causing germline mutation(s) in' some 'CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome' + 'chromodomain helicase DNA binding protein 3' SubClassOf 'gene with protein product' + 'chromodomain helicase DNA binding protein 3' SubClassOf 'has_chromosomal location' value "17p13.1" Class: http://www.orpha.net/ORDO/Orphanet_529590 Label(s): ALG5 dolichyl-phosphate beta-glucosyltransferase + 'ALG5 dolichyl-phosphate beta-glucosyltransferase' SubClassOf 'has_chromosomal location' value "13q13.3" + 'ALG5 dolichyl-phosphate beta-glucosyltransferase' SubClassOf 'gene with protein product' + 'ALG5 dolichyl-phosphate beta-glucosyltransferase' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_631251 Label(s): Cancer of unknown primary site + 'Cancer of unknown primary site' SubClassOf 'disease' + 'Cancer of unknown primary site' SubClassOf 'disorder' + 'Cancer of unknown primary site' SubClassOf 'part_of' some 'Rare tumor' Class: http://www.orpha.net/ORDO/Orphanet_631248 Label(s): Mitchell Syndrome + 'Mitchell Syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Mitchell Syndrome' SubClassOf 'disease' + 'Mitchell Syndrome' SubClassOf 'part_of' some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' + 'Mitchell Syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_600655 Label(s): LSM11, U7 small nuclear RNA associated + 'LSM11, U7 small nuclear RNA associated' SubClassOf 'gene with protein product' + 'LSM11, U7 small nuclear RNA associated' SubClassOf 'disease-causing germline mutation(s) in' some 'Aicardi-Goutières syndrome' + 'LSM11, U7 small nuclear RNA associated' SubClassOf 'has_chromosomal location' value "5q33.3" Class: http://www.orpha.net/ORDO/Orphanet_631870 Label(s): ATPase phospholipid transporting 9A (putative) + 'ATPase phospholipid transporting 9A (putative)' SubClassOf 'has_chromosomal location' value "20q13.2" + 'ATPase phospholipid transporting 9A (putative)' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'ATPase phospholipid transporting 9A (putative)' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_585357 Label(s): potassium two pore domain channel subfamily K member 4 + 'potassium two pore domain channel subfamily K member 4' SubClassOf 'has_chromosomal location' value "11q13.1" + 'potassium two pore domain channel subfamily K member 4' SubClassOf 'gene with protein product' + 'potassium two pore domain channel subfamily K member 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_628915 Label(s): TIAM Rac1 associated GEF 1 + 'TIAM Rac1 associated GEF 1' SubClassOf 'gene with protein product' + 'TIAM Rac1 associated GEF 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'TIAM Rac1 associated GEF 1' SubClassOf 'has_chromosomal location' value "21q22.11" Class: http://www.orpha.net/ORDO/Orphanet_585329 Label(s): F-box and WD repeat domain containing 4 + 'F-box and WD repeat domain containing 4' SubClassOf 'gene with protein product' + 'F-box and WD repeat domain containing 4' SubClassOf 'role in the phenotype of' some 'Isolated split hand-split foot malformation' + 'F-box and WD repeat domain containing 4' SubClassOf 'has_chromosomal location' value "10q24.32" Class: http://www.orpha.net/ORDO/Orphanet_634461 Label(s): Mosaic neurofibromatosis type 1 + 'Mosaic neurofibromatosis type 1' SubClassOf 'disorder' + 'Mosaic neurofibromatosis type 1' SubClassOf 'disease' + 'Mosaic neurofibromatosis type 1' SubClassOf 'part_of' some 'Neurofibromatosis/schwannomatosis' Class: http://www.orpha.net/ORDO/Orphanet_599638 Label(s): lysine demethylase 3B + 'lysine demethylase 3B' SubClassOf 'disease-causing germline mutation(s) in' some 'KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome' + 'lysine demethylase 3B' SubClassOf 'has_chromosomal location' value "5q31.2" + 'lysine demethylase 3B' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_631103 Label(s): Spinocerebellar ataxia type 48 + 'Spinocerebellar ataxia type 48' SubClassOf 'disease' + 'Spinocerebellar ataxia type 48' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type I' + 'Spinocerebellar ataxia type 48' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_629000 Label(s): centrosomal protein 85 like + 'centrosomal protein 85 like' SubClassOf 'gene with protein product' + 'centrosomal protein 85 like' SubClassOf 'disease-causing germline mutation(s) in' some 'Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome' + 'centrosomal protein 85 like' SubClassOf 'has_chromosomal location' value "6q22.31" Class: http://www.orpha.net/ORDO/Orphanet_629033 Label(s): ER degradation enhancing alpha-mannosidase like protein 3 + 'ER degradation enhancing alpha-mannosidase like protein 3' SubClassOf 'has_chromosomal location' value "1q25.3" + 'ER degradation enhancing alpha-mannosidase like protein 3' SubClassOf 'gene with protein product' + 'ER degradation enhancing alpha-mannosidase like protein 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_629041 Label(s): POU class 4 homeobox 1 + 'POU class 4 homeobox 1' SubClassOf 'gene with protein product' + 'POU class 4 homeobox 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-progressive cerebellar ataxia with intellectual disability' + 'POU class 4 homeobox 1' SubClassOf 'has_chromosomal location' value "13q31.1" Class: http://www.orpha.net/ORDO/Orphanet_631095 Label(s): Spinocerebellar ataxia type 44 + 'Spinocerebellar ataxia type 44' SubClassOf 'disease' + 'Spinocerebellar ataxia type 44' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type III' + 'Spinocerebellar ataxia type 44' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_631093 Label(s): transmembrane protein 63C + 'transmembrane protein 63C' SubClassOf 'has_chromosomal location' value "14q24.3" + 'transmembrane protein 63C' SubClassOf 'gene with protein product' + 'transmembrane protein 63C' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 87' Class: http://www.orpha.net/ORDO/Orphanet_631091 Label(s): abhydrolase domain containing 16A, phospholipase + 'abhydrolase domain containing 16A, phospholipase' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 86' + 'abhydrolase domain containing 16A, phospholipase' SubClassOf 'has_chromosomal location' value "6p21.33" + 'abhydrolase domain containing 16A, phospholipase' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_631082 Label(s): Autosomal recessive spastic paraplegia type 85 + 'Autosomal recessive spastic paraplegia type 85' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 85' SubClassOf 'disorder' + 'Autosomal recessive spastic paraplegia type 85' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_631079 Label(s): Autosomal recessive spastic paraplegia type 84 + 'Autosomal recessive spastic paraplegia type 84' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 84' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 84' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_631076 Label(s): Autosomal recessive spastic paraplegia type 83 + 'Autosomal recessive spastic paraplegia type 83' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 83' SubClassOf 'part_of' some 'Autosomal recessive pure spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 83' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_631073 Label(s): Autosomal recessive spastic paraplegia type 82 + 'Autosomal recessive spastic paraplegia type 82' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 82' SubClassOf 'disorder' + 'Autosomal recessive spastic paraplegia type 82' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_631068 Label(s): Autosomal dominant spastic paraplegia type 80 + 'Autosomal dominant spastic paraplegia type 80' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 80' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 80' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_633228 Label(s): Proximal femoral focal deficiency + 'Proximal femoral focal deficiency' SubClassOf 'Morphological anomaly' + 'Proximal femoral focal deficiency' SubClassOf 'disorder' + 'Proximal femoral focal deficiency' SubClassOf 'part_of' some 'Intercalary limb defects' Class: http://www.orpha.net/ORDO/Orphanet_633211 Label(s): Preaxial digit brachydactyly-webbed fingers + 'Preaxial digit brachydactyly-webbed fingers' SubClassOf 'malformation syndrome' + 'Preaxial digit brachydactyly-webbed fingers' SubClassOf 'disorder' + 'Preaxial digit brachydactyly-webbed fingers' SubClassOf 'part_of' some 'Dysostosis with brachydactyly without extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_633205 Label(s): COPI coat complex subunit beta 1 + 'COPI coat complex subunit beta 1' SubClassOf 'gene with protein product' + 'COPI coat complex subunit beta 1' SubClassOf 'has_chromosomal location' value "11p15.2" + 'COPI coat complex subunit beta 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Intellectual disability-early-onset cataract-microcephaly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_470984 Label(s): ring finger protein 170 + 'ring finger protein 170' SubClassOf 'has_chromosomal location' value "8p11.21" + 'ring finger protein 170' SubClassOf 'gene with protein product' + 'ring finger protein 170' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 85' Class: http://www.orpha.net/ORDO/Orphanet_489900 Label(s): solute carrier family 10 member 1 + 'solute carrier family 10 member 1' SubClassOf 'has_chromosomal location' value "14q24.1" + 'solute carrier family 10 member 1' SubClassOf 'gene with protein product' + 'solute carrier family 10 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial hypercholanemia' Class: http://www.orpha.net/ORDO/Orphanet_633124 Label(s): Invasive scopulariopsis infection + 'Invasive scopulariopsis infection' SubClassOf 'disease' + 'Invasive scopulariopsis infection' SubClassOf 'disorder' + 'Invasive scopulariopsis infection' SubClassOf 'part_of' some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_509258 Label(s): suppressor of cytokine signaling 1 + 'suppressor of cytokine signaling 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome' + 'suppressor of cytokine signaling 1' SubClassOf 'has_chromosomal location' value "16p13.13" + 'suppressor of cytokine signaling 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_577170 Label(s): tubulin beta 4B class IVb + 'tubulin beta 4B class IVb' SubClassOf 'has_chromosomal location' value "9q34.3" + 'tubulin beta 4B class IVb' SubClassOf 'disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'tubulin beta 4B class IVb' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_633076 Label(s): Split cord malformation, composite type + 'Split cord malformation, composite type' SubClassOf 'subtype of a disorder' + 'Split cord malformation, composite type' SubClassOf 'part_of' some 'Split cord malformation' Class: http://www.orpha.net/ORDO/Orphanet_599884 Label(s): neuronal cell adhesion molecule + 'neuronal cell adhesion molecule' SubClassOf 'gene with protein product' + 'neuronal cell adhesion molecule' SubClassOf 'has_chromosomal location' value "7q31.1" + 'neuronal cell adhesion molecule' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_600633 Label(s): H4 clustered histone 5 + 'H4 clustered histone 5' SubClassOf 'gene with protein product' + 'H4 clustered histone 5' SubClassOf 'has_chromosomal location' value "6p22.2" + 'H4 clustered histone 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_600635 Label(s): H4 clustered histone 9 + 'H4 clustered histone 9' SubClassOf 'gene with protein product' + 'H4 clustered histone 9' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'H4 clustered histone 9' SubClassOf 'has_chromosomal location' value "6p22.1" Class: http://www.orpha.net/ORDO/Orphanet_633028 Label(s): CPE-related Prader-Willi-like syndrome + 'CPE-related Prader-Willi-like syndrome' SubClassOf 'disease' + 'CPE-related Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Prader-Willi-like syndrome' + 'CPE-related Prader-Willi-like syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_633024 Label(s): SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome + 'SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome' SubClassOf 'part_of' some 'SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome' + 'SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_633014 Label(s): SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome + 'SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome' SubClassOf 'disorder' + 'SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome' SubClassOf 'disease' + 'SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_633004 Label(s): KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome + 'KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome' SubClassOf 'disease' + 'KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' + 'KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome' SubClassOf 'disorder' + 'KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_587138 Label(s): azoospermia factor 1 + 'azoospermia factor 1' SubClassOf 'role in the phenotype of' some 'Partial chromosome Y deletion' + 'azoospermia factor 1' SubClassOf 'disorder-associated locus' Class: http://www.orpha.net/ORDO/Orphanet_121844 Label(s): filaggrin + 'filaggrin' SubClassOf 'has_chromosomal location' value "1q21.3" + 'filaggrin' SubClassOf 'disease-causing germline mutation(s) in' some 'Recessive X-linked ichthyosis' + 'filaggrin' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_633208 Label(s): carboxypeptidase E + 'carboxypeptidase E' SubClassOf 'has_chromosomal location' value "4q32.3" + 'carboxypeptidase E' SubClassOf 'gene with protein product' + 'carboxypeptidase E' SubClassOf 'disease-causing germline mutation(s) in' some 'CPE-related Prader-Willi-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_629504 Label(s): protocadherin gamma subfamily C, 4 + 'protocadherin gamma subfamily C, 4' SubClassOf 'gene with protein product' + 'protocadherin gamma subfamily C, 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'protocadherin gamma subfamily C, 4' SubClassOf 'has_chromosomal location' value "5q31.3" Class: http://www.orpha.net/ORDO/Orphanet_614200 Label(s): 'RNA, U7 small nuclear 1' + ''RNA, U7 small nuclear 1'' SubClassOf 'disease-causing germline mutation(s) in' some 'Aicardi-Goutières syndrome' + ''RNA, U7 small nuclear 1'' SubClassOf 'non coding RNA' + ''RNA, U7 small nuclear 1'' SubClassOf 'has_chromosomal location' value "12p13.31" Class: http://www.orpha.net/ORDO/Orphanet_628998 Label(s): calpain 15 + 'calpain 15' SubClassOf 'disease-causing germline mutation(s) in' some 'Oculogastrointestinal-neurodevelopmental syndrome' + 'calpain 15' SubClassOf 'gene with protein product' + 'calpain 15' SubClassOf 'has_chromosomal location' value "16p13.3" Class: http://www.orpha.net/ORDO/Orphanet_629029 Label(s): protein kinase cAMP-activated catalytic subunit beta + 'protein kinase cAMP-activated catalytic subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some 'Ellis Van Creveld syndrome' + 'protein kinase cAMP-activated catalytic subunit beta' SubClassOf 'gene with protein product' + 'protein kinase cAMP-activated catalytic subunit beta' SubClassOf 'has_chromosomal location' value "1p31.1" Class: http://www.orpha.net/ORDO/Orphanet_634511 Label(s): Mosaic Legius syndrome + 'Mosaic Legius syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Mosaic Legius syndrome' SubClassOf 'disease' + 'Mosaic Legius syndrome' SubClassOf 'disorder' + 'Mosaic Legius syndrome' SubClassOf 'part_of' some 'RASopathy' + 'Mosaic Legius syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_510846 Label(s): fizzy and cell division cycle 20 related 1 + 'fizzy and cell division cycle 20 related 1' SubClassOf 'has_chromosomal location' value "19p13.3" + 'fizzy and cell division cycle 20 related 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' + 'fizzy and cell division cycle 20 related 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_630550 Label(s): cleavage and polyadenylation specific factor 3 + 'cleavage and polyadenylation specific factor 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'cleavage and polyadenylation specific factor 3' SubClassOf 'gene with protein product' + 'cleavage and polyadenylation specific factor 3' SubClassOf 'has_chromosomal location' value "2p25.1" Class: http://www.orpha.net/ORDO/Orphanet_631085 Label(s): Autosomal recessive spastic paraplegia type 86 + 'Autosomal recessive spastic paraplegia type 86' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 86' SubClassOf 'disorder' + 'Autosomal recessive spastic paraplegia type 86' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_594573 Label(s): NCK associated protein 1 like + 'NCK associated protein 1 like' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial hyperinflammatory lymphoproliferative immunodeficiency' + 'NCK associated protein 1 like' SubClassOf 'has_chromosomal location' value "12q13.13-q13.2" + 'NCK associated protein 1 like' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_632603 Label(s): Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome + 'Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome' SubClassOf 'disorder' + 'Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome' SubClassOf 'malformation syndrome' + 'Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_629050 Label(s): transmembrane protein 218 + 'transmembrane protein 218' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Joubert syndrome' + 'transmembrane protein 218' SubClassOf 'gene with protein product' + 'transmembrane protein 218' SubClassOf 'has_chromosomal location' value "11q24.2" Class: http://www.orpha.net/ORDO/Orphanet_456982 Label(s): bone morphogenetic protein 6 + 'bone morphogenetic protein 6' SubClassOf 'has_chromosomal location' value "6p24.3" + 'bone morphogenetic protein 6' SubClassOf 'gene with protein product' + 'bone morphogenetic protein 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Symptomatic form of hemochromatosis type 1' Class: http://www.orpha.net/ORDO/Orphanet_566703 Label(s): nuclear receptor subfamily 4 group A member 2 + 'nuclear receptor subfamily 4 group A member 2' SubClassOf 'gene with protein product' + 'nuclear receptor subfamily 4 group A member 2' SubClassOf 'has_chromosomal location' value "2q22-q23" + 'nuclear receptor subfamily 4 group A member 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal dominant dopa-responsive dystonia' Class: http://www.orpha.net/ORDO/Orphanet_631088 Label(s): Autosomal recessive spastic paraplegia type 87 + 'Autosomal recessive spastic paraplegia type 87' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 87' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 87' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_630141 Label(s): aspartic peptidase retroviral like 1 + 'aspartic peptidase retroviral like 1' SubClassOf 'has_chromosomal location' value "2p13.3" + 'aspartic peptidase retroviral like 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' + 'aspartic peptidase retroviral like 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_509320 Label(s): zinc and ring finger 3 + 'zinc and ring finger 3' SubClassOf 'disease-causing somatic mutation(s) in' some 'Adrenocortical carcinoma' + 'zinc and ring finger 3' SubClassOf 'gene with protein product' + 'zinc and ring finger 3' SubClassOf 'has_chromosomal location' value "22q12.1" Class: http://www.orpha.net/ORDO/Orphanet_634518 Label(s): Neurofibromatosis/schwannomatosis + 'Neurofibromatosis/schwannomatosis' SubClassOf 'group of disorders' + 'Neurofibromatosis/schwannomatosis' SubClassOf 'Inherited cancer-predisposing syndrome' + 'Neurofibromatosis/schwannomatosis' SubClassOf 'Inherited nervous system cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_629043 Label(s): TOG array regulator of axonemal microtubules 1 + 'TOG array regulator of axonemal microtubules 1' SubClassOf 'has_chromosomal location' value "14q21.2" + 'TOG array regulator of axonemal microtubules 1' SubClassOf 'gene with protein product' + 'TOG array regulator of axonemal microtubules 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_629031 Label(s): eukaryotic translation initiation factor 5A + 'eukaryotic translation initiation factor 5A' SubClassOf 'has_chromosomal location' value "17p13.1" + 'eukaryotic translation initiation factor 5A' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'eukaryotic translation initiation factor 5A' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_629008 Label(s): zinc finger MYM-type containing 2 + 'zinc finger MYM-type containing 2' SubClassOf 'has_chromosomal location' value "13q12.11" + 'zinc finger MYM-type containing 2' SubClassOf 'gene with protein product' + 'zinc finger MYM-type containing 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_628994 Label(s): siah E3 ubiquitin protein ligase 1 + 'siah E3 ubiquitin protein ligase 1' SubClassOf 'has_chromosomal location' value "16q12.1" + 'siah E3 ubiquitin protein ligase 1' SubClassOf 'gene with protein product' + 'siah E3 ubiquitin protein ligase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_628992 Label(s): tet methylcytosine dioxygenase 3 + 'tet methylcytosine dioxygenase 3' SubClassOf 'gene with protein product' + 'tet methylcytosine dioxygenase 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'tet methylcytosine dioxygenase 3' SubClassOf 'has_chromosomal location' value "2p13.1" Class: http://www.orpha.net/ORDO/Orphanet_628990 Label(s): OTU deubiquitinase 5 + 'OTU deubiquitinase 5' SubClassOf 'has_chromosomal location' value "Xp11.23" + 'OTU deubiquitinase 5' SubClassOf 'gene with protein product' + 'OTU deubiquitinase 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_628988 Label(s): ATP binding cassette subfamily A member 2 + 'ATP binding cassette subfamily A member 2' SubClassOf 'gene with protein product' + 'ATP binding cassette subfamily A member 2' SubClassOf 'has_chromosomal location' value "9q34.3" + 'ATP binding cassette subfamily A member 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_628986 Label(s): transmembrane protein 222 + 'transmembrane protein 222' SubClassOf 'gene with protein product' + 'transmembrane protein 222' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'transmembrane protein 222' SubClassOf 'has_chromosomal location' value "1p36.11" Class: http://www.orpha.net/ORDO/Orphanet_628984 Label(s): inositol monophosphatase 1 + 'inositol monophosphatase 1' SubClassOf 'gene with protein product' + 'inositol monophosphatase 1' SubClassOf 'has_chromosomal location' value "8q21.13" + 'inositol monophosphatase 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_631106 Label(s): Spinocerebellar ataxia type 49 + 'Spinocerebellar ataxia type 49' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type I' + 'Spinocerebellar ataxia type 49' SubClassOf 'disease' + 'Spinocerebellar ataxia type 49' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_470086 Label(s): chromodomain helicase DNA binding protein 5 + 'chromodomain helicase DNA binding protein 5' SubClassOf 'gene with protein product' + 'chromodomain helicase DNA binding protein 5' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'chromodomain helicase DNA binding protein 5' SubClassOf 'has_chromosomal location' value "1p36.31" Class: http://www.orpha.net/ORDO/Orphanet_628932 Label(s): myomixer, myoblast fusion factor + 'myomixer, myoblast fusion factor' SubClassOf 'has_chromosomal location' value "6p21.1" + 'myomixer, myoblast fusion factor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Carey-Fineman-Ziter syndrome' + 'myomixer, myoblast fusion factor' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_628923 Label(s): p21 (RAC1) activated kinase 2 + 'p21 (RAC1) activated kinase 2' SubClassOf 'gene with protein product' + 'p21 (RAC1) activated kinase 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Knobloch syndrome' + 'p21 (RAC1) activated kinase 2' SubClassOf 'has_chromosomal location' value "3q29" Class: http://www.orpha.net/ORDO/Orphanet_628921 Label(s): solute carrier family 38 member 3 + 'solute carrier family 38 member 3' SubClassOf 'gene with protein product' + 'solute carrier family 38 member 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' + 'solute carrier family 38 member 3' SubClassOf 'has_chromosomal location' value "3p21.31" Class: http://www.orpha.net/ORDO/Orphanet_634492 Label(s): Mosaic schwannomatosis + 'Mosaic schwannomatosis' SubClassOf 'disorder' + 'Mosaic schwannomatosis' SubClassOf 'disease' + 'Mosaic schwannomatosis' SubClassOf 'part_of' some 'Neurofibromatosis/schwannomatosis' Class: http://www.orpha.net/ORDO/Orphanet_628917 Label(s): ADP ribosylation factor 3 + 'ADP ribosylation factor 3' SubClassOf 'has_chromosomal location' value "12q13.12" + 'ADP ribosylation factor 3' SubClassOf 'gene with protein product' + 'ADP ribosylation factor 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_634475 Label(s): Mosaic NF2-related schwannomatosis + 'Mosaic NF2-related schwannomatosis' SubClassOf 'disorder' + 'Mosaic NF2-related schwannomatosis' SubClassOf 'disease' + 'Mosaic NF2-related schwannomatosis' SubClassOf 'part_of' some 'Neurofibromatosis/schwannomatosis' Class: http://www.orpha.net/ORDO/Orphanet_600291 Label(s): H4 clustered histone 3 + 'H4 clustered histone 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'H4 clustered histone 3' SubClassOf 'gene with protein product' + 'H4 clustered histone 3' SubClassOf 'has_chromosomal location' value "6p22.2" Class: http://www.orpha.net/ORDO/Orphanet_600231 Label(s): eukaryotic translation elongation factor 1 beta 2 + 'eukaryotic translation elongation factor 1 beta 2' SubClassOf 'gene with protein product' + 'eukaryotic translation elongation factor 1 beta 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'eukaryotic translation elongation factor 1 beta 2' SubClassOf 'has_chromosomal location' value "2q33.3" Class: http://www.orpha.net/ORDO/Orphanet_628878 Label(s): minichromosome maintenance complex component 7 + 'minichromosome maintenance complex component 7' SubClassOf 'has_chromosomal location' value "7q22.1" + 'minichromosome maintenance complex component 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'minichromosome maintenance complex component 7' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_628844 Label(s): phospholipase C eta 1 + 'phospholipase C eta 1' SubClassOf 'has_chromosomal location' value "3q25.31" + 'phospholipase C eta 1' SubClassOf 'gene with protein product' + 'phospholipase C eta 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_626609 Label(s): Rare andrological tumor + 'Rare andrological tumor' SubClassOf 'Rare tumor' + 'Rare andrological tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_558715 Label(s): glutamate ionotropic receptor AMPA type subunit 1 + 'glutamate ionotropic receptor AMPA type subunit 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'glutamate ionotropic receptor AMPA type subunit 1' SubClassOf 'gene with protein product' + 'glutamate ionotropic receptor AMPA type subunit 1' SubClassOf 'has_chromosomal location' value "5q33.2" + 'glutamate ionotropic receptor AMPA type subunit 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_633021 Label(s): SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome + 'SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome' SubClassOf 'part_of' some 'SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome' + 'SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_600142 Label(s): A-kinase anchoring protein 4 + 'A-kinase anchoring protein 4' SubClassOf 'gene with protein product' + 'A-kinase anchoring protein 4' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'A-kinase anchoring protein 4' SubClassOf 'has_chromosomal location' value "Xp11.22" Class: http://www.orpha.net/ORDO/Orphanet_600112 Label(s): trafficking protein particle complex subunit 10 + 'trafficking protein particle complex subunit 10' SubClassOf 'has_chromosomal location' value "21q22.3" + 'trafficking protein particle complex subunit 10' SubClassOf 'gene with protein product' + 'trafficking protein particle complex subunit 10' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' ################ @Classes deleted from this version Class: http://www.orpha.net/ORDO/Orphanet_410100 Label(s): Italy + 'Italy' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410122 Label(s): Macedonia, the former Yugoslav Republic of + 'Macedonia, the former Yugoslav Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410125 Label(s): Malaysia + 'Malaysia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410128 Label(s): Malta + 'Malta' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410158 Label(s): Oman + 'Oman' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410159 Label(s): Pakistan + 'Pakistan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410164 Label(s): Paraguay + 'Paraguay' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410186 Label(s): Saudi Arabia + 'Saudi Arabia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410199 Label(s): Sri Lanka + 'Sri Lanka' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410238 Label(s): Zimbabwe + 'Zimbabwe' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410230 Label(s): Venezuela + 'Venezuela' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410228 Label(s): Uzbekistan + 'Uzbekistan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410227 Label(s): Uruguay + 'Uruguay' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410224 Label(s): United Kingdom + 'United Kingdom' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410223 Label(s): United Arab Emirates + 'United Arab Emirates' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410221 Label(s): Uganda + 'Uganda' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410217 Label(s): Turkey + 'Turkey' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410216 Label(s): Tunisia + 'Tunisia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410212 Label(s): Togo + 'Togo' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410205 Label(s): Switzerland + 'Switzerland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410200 Label(s): Sudan + 'Sudan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410198 Label(s): Spain + 'Spain' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410196 Label(s): South Africa + 'South Africa' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410193 Label(s): Slovenia + 'Slovenia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410192 Label(s): Slovakia + 'Slovakia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410188 Label(s): Serbia + 'Serbia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410173 Label(s): Romania + 'Romania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410172 Label(s): Reunion + 'Reunion' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410171 Label(s): Qatar + 'Qatar' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410170 Label(s): Puerto rico + 'Puerto rico' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410169 Label(s): Portugal + 'Portugal' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410168 Label(s): Poland + 'Poland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410166 Label(s): Philippines + 'Philippines' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410165 Label(s): Peru + 'Peru' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410157 Label(s): Norway + 'Norway' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410153 Label(s): Nigeria + 'Nigeria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410151 Label(s): Nicaragua + 'Nicaragua' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410150 Label(s): New Zealand + 'New Zealand' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410147 Label(s): Netherlands + 'Netherlands' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410141 Label(s): Morocco + 'Morocco' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410138 Label(s): Mongolia + 'Mongolia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410136 Label(s): Moldova, Republic of + 'Moldova, Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410134 Label(s): Mexico + 'Mexico' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410130 Label(s): Martinique + 'Martinique' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410120 Label(s): Luxembourg + 'Luxembourg' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410119 Label(s): Lithuania + 'Lithuania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410117 Label(s): Libyan Arab Jamahiriya + 'Libyan Arab Jamahiriya' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410114 Label(s): Lebanon + 'Lebanon' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410109 Label(s): Korea, Republic of + 'Korea, Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410106 Label(s): Kenya + 'Kenya' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410204 Label(s): Sweden + 'Sweden' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410207 Label(s): Taiwan, Province of China + 'Taiwan, Province of China' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410209 Label(s): Tanzania, United Republic of + 'Tanzania, United Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410225 Label(s): United States + 'United States' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409929 Label(s): autosomal dominant + 'autosomal dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409938 Label(s): Y-linked + 'Y-linked' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409939 Label(s): unknown inheritance + 'unknown inheritance' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409941 Label(s): not genetically inherited + 'not genetically inherited' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409946 Label(s): childhood + 'childhood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409951 Label(s): no age of onset data available + 'no age of onset data available' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409976 Label(s): 1-9 / 1 000 000 + '1-9 / 1 000 000' SubClassOf 'annual incidence' + '1-9 / 1 000 000' SubClassOf 'point prevalence' + '1-9 / 1 000 000' SubClassOf 'birth prevalence' + '1-9 / 1 000 000' SubClassOf 'lifetime prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409977 Label(s): 1-9 / 100 000 + '1-9 / 100 000' SubClassOf 'point prevalence' + '1-9 / 100 000' SubClassOf 'birth prevalence' + '1-9 / 100 000' SubClassOf 'lifetime prevalence' + '1-9 / 100 000' SubClassOf 'annual incidence' Class: http://www.orpha.net/ORDO/Orphanet_409987 Label(s): Latin America + 'Latin America' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409989 Label(s): South East Asia + 'South East Asia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409992 Label(s): Specific population + 'Specific population' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409996 Label(s): Algeria + 'Algeria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410099 Label(s): Israel + 'Israel' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410096 Label(s): Iraq + 'Iraq' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410094 Label(s): Indonesia + 'Indonesia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410093 Label(s): India + 'India' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410092 Label(s): Iceland + 'Iceland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410090 Label(s): Hong Kong + 'Hong Kong' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410086 Label(s): Haiti + 'Haiti' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410063 Label(s): Faroe Islands + 'Faroe Islands' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410060 Label(s): Estonia + 'Estonia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410059 Label(s): Eritrea + 'Eritrea' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410057 Label(s): El Salvador + 'El Salvador' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410056 Label(s): Egypt + 'Egypt' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410051 Label(s): Denmark + 'Denmark' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410050 Label(s): Czech Republic + 'Czech Republic' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410049 Label(s): Cyprus + 'Cyprus' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410048 Label(s): Cuba + 'Cuba' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410047 Label(s): Croatia + 'Croatia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410040 Label(s): Colombia + 'Colombia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410037 Label(s): China + 'China' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410026 Label(s): Bulgaria + 'Bulgaria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410023 Label(s): Brazil + 'Brazil' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410020 Label(s): Bosnia and Herzegovina + 'Bosnia and Herzegovina' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410019 Label(s): Bolivia + 'Bolivia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410015 Label(s): Belize + 'Belize' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410014 Label(s): Belgium + 'Belgium' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410010 Label(s): Bahrain + 'Bahrain' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410007 Label(s): Austria + 'Austria' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410006 Label(s): Australia + 'Australia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410004 Label(s): Armenia + 'Armenia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410003 Label(s): Argentina + 'Argentina' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410045 Label(s): Costa rica + 'Costa rica' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410085 Label(s): Guyana + 'Guyana' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409936 Label(s): oligogenic + 'oligogenic' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409937 Label(s): semi-dominant + 'semi-dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409968 Label(s): birth prevalence + 'birth prevalence' SubClassOf 'prevalence' Class: http://www.orpha.net/ORDO/Orphanet_410110 Label(s): Kuwait + 'Kuwait' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410174 Label(s): Russian Federation + 'Russian Federation' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410073 Label(s): Germany + 'Germany' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_C009 Label(s): geography Class: http://www.orpha.net/ORDO/Orphanet_C005 Label(s): inheritance Class: http://www.orpha.net/ORDO/Orphanet_C004 Label(s): prevalence + 'prevalence' SubClassOf 'epidemiology' Class: http://www.orpha.net/ORDO/Orphanet_410091 Label(s): Hungary + 'Hungary' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409983 Label(s): Africa + 'Africa' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409948 Label(s): adult + 'adult' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409949 Label(s): elderly + 'elderly' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409950 Label(s): all ages + 'all ages' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409979 Label(s): <1 / 1 000 000 + '<1 / 1 000 000' SubClassOf 'annual incidence' + '<1 / 1 000 000' SubClassOf 'birth prevalence' + '<1 / 1 000 000' SubClassOf 'point prevalence' + '<1 / 1 000 000' SubClassOf 'lifetime prevalence' Class: http://www.orpha.net/ORDO/Orphanet_C003 Label(s): epidemiology Class: http://www.orpha.net/ORDO/Orphanet_597054 Label(s): centrosomal protein 72 + 'centrosomal protein 72' SubClassOf 'candidate gene tested in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'centrosomal protein 72' SubClassOf 'gene with protein product' + 'centrosomal protein 72' SubClassOf 'candidate gene tested in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'centrosomal protein 72' SubClassOf 'has_chromosomal location' value "5p15.33" Class: http://www.orpha.net/ORDO/Orphanet_410025 Label(s): Brunei Darussalam + 'Brunei Darussalam' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410036 Label(s): Chile + 'Chile' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410187 Label(s): Senegal + 'Senegal' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410068 Label(s): French Polynesia + 'French Polynesia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410072 Label(s): Georgia + 'Georgia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410076 Label(s): Greece + 'Greece' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410077 Label(s): Greenland + 'Greenland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409995 Label(s): Albania + 'Albania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410089 Label(s): Honduras + 'Honduras' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409986 Label(s): North America + 'North America' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409985 Label(s): Oceania + 'Oceania' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409984 Label(s): Europe + 'Europe' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410095 Label(s): Iran, Islamic Republic of + 'Iran, Islamic Republic of' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409978 Label(s): 6-9 / 10 000 + '6-9 / 10 000' SubClassOf 'lifetime prevalence' + '6-9 / 10 000' SubClassOf 'annual incidence' + '6-9 / 10 000' SubClassOf 'birth prevalence' + '6-9 / 10 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409975 Label(s): 1-5 / 10 000 + '1-5 / 10 000' SubClassOf 'point prevalence' + '1-5 / 10 000' SubClassOf 'birth prevalence' + '1-5 / 10 000' SubClassOf 'lifetime prevalence' + '1-5 / 10 000' SubClassOf 'annual incidence' Class: http://www.orpha.net/ORDO/Orphanet_409973 Label(s): case + 'case' SubClassOf 'cases/families' Class: http://www.orpha.net/ORDO/Orphanet_409970 Label(s): cases/families + 'cases/families' SubClassOf 'epidemiology' Class: http://www.orpha.net/ORDO/Orphanet_409967 Label(s): annual incidence + 'annual incidence' SubClassOf 'epidemiology' Class: http://www.orpha.net/ORDO/Orphanet_409947 Label(s): adolescent + 'adolescent' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409945 Label(s): infancy + 'infancy' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409944 Label(s): neonatal + 'neonatal' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409943 Label(s): antenatal + 'antenatal' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_409940 Label(s): no inheritance data available + 'no inheritance data available' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409932 Label(s): X-linked recessive + 'X-linked recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409931 Label(s): multigenic/multifactorial + 'multigenic/multifactorial' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409930 Label(s): autosomal recessive + 'autosomal recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_410101 Label(s): Jamaica + 'Jamaica' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410102 Label(s): Japan + 'Japan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410104 Label(s): Jordan + 'Jordan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410113 Label(s): Latvia + 'Latvia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410115 Label(s): Lesotho + 'Lesotho' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410146 Label(s): Nepal + 'Nepal' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_279640 Label(s): myostatin + 'myostatin' SubClassOf 'gene with protein product' + 'myostatin' SubClassOf 'has_chromosomal location' value "2q32.2" + 'myostatin' SubClassOf 'disease-causing germline mutation(s) in' some 'Myostatin-related muscle hypertrophy' Class: http://www.orpha.net/ORDO/Orphanet_410161 Label(s): Palestinian Territory, occupied + 'Palestinian Territory, occupied' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410162 Label(s): Panama + 'Panama' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410190 Label(s): Sierra leone + 'Sierra leone' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410191 Label(s): Singapore + 'Singapore' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410054 Label(s): Dominican Republic + 'Dominican Republic' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410210 Label(s): Thailand + 'Thailand' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410231 Label(s): Viet Nam + 'Viet Nam' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409991 Label(s): Worldwide + 'Worldwide' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_409933 Label(s): mitochondrial + 'mitochondrial' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_409934 Label(s): X-linked dominant + 'X-linked dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_C023 Label(s): age of onset Class: http://www.orpha.net/ORDO/Orphanet_409966 Label(s): point prevalence + 'point prevalence' SubClassOf 'prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409969 Label(s): lifetime prevalence + 'lifetime prevalence' SubClassOf 'prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409974 Label(s): family + 'family' SubClassOf 'cases/families' Class: http://www.orpha.net/ORDO/Orphanet_409980 Label(s): >1 / 1000 + '>1 / 1000' SubClassOf 'lifetime prevalence' + '>1 / 1000' SubClassOf 'annual incidence' + '>1 / 1000' SubClassOf 'point prevalence' + '>1 / 1000' SubClassOf 'birth prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409981 Label(s): Unknown_epidemiological_range + 'Unknown_epidemiological_range' SubClassOf 'lifetime prevalence' + 'Unknown_epidemiological_range' SubClassOf 'birth prevalence' + 'Unknown_epidemiological_range' SubClassOf 'annual incidence' + 'Unknown_epidemiological_range' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_409990 Label(s): Western Asia + 'Western Asia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410222 Label(s): Ukraine + 'Ukraine' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410008 Label(s): Azerbaijan + 'Azerbaijan' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410011 Label(s): Bangladesh + 'Bangladesh' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410013 Label(s): Belarus + 'Belarus' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410031 Label(s): Canada + 'Canada' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410055 Label(s): Ecuador + 'Ecuador' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410065 Label(s): Finland + 'Finland' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410066 Label(s): France + 'France' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410079 Label(s): Guadeloupe + 'Guadeloupe' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410081 Label(s): Guatemala + 'Guatemala' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_410097 Label(s): Ireland + 'Ireland' SubClassOf 'geography'